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Choroby genetyczne człowieka (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Choroby genetyczne człowieka" in Polish language version.

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  • Vanessa Ngan, Xeroderma pigmentosum [online], DermNet New Zealand, New Zealand Dermatological Society, 2002 (ang.).

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  • Philip L. Cohen, Robert A. Eisenberg, Lpr and gl: Single Gene Models of Systemic Autoimmunity and Lymphoproliferative Disease, „Annual Review of Immunology”, 9 (1), 1991, s. 243–269, DOI: 10.1146/annurev.iy.09.040191.001331, PMID: 1910678.
  • Samantha L. Ginn i inni, Gene therapy clinical trials worldwide to 2012 – an update, „The Journal of Gene Medicine”, 15 (2), 2013, s. 65–77, DOI: 10.1002/jgm.2698.
  • Meagan E. Giles i inni, Prenatal cfDNA screening results indicative of maternal neoplasm: survey of current practice and management needs, „Prenatal Diagnosis”, 37 (2), 2017, s. 126–132, DOI: 10.1002/pd.4973.
  • Don J. Brenner, Deoxyribonucleic acid reassociation in the taxonomy of enteric bacteria, „International Journal of Systematic Bacteriology”, 23, 1973, s. 298–307, DOI: 10.1099/00207713-23-4-298.
  • L.G. Wayne i inni, Report of the ad hoc committee on reconciliation of approaches to bacterial systematics, „International Journal of Systematic Bacteriology”, 37, 1987, s. 463–464, DOI: 10.1099/00207713-37-4-463.
  • B.J. Tindall i inni, Notes on the characterization of prokaryote strains for taxonomic purposes, „International Journal of Systematic and Evolutionary Microbiology”, 60, s. 249–266, DOI: 10.1099/ijs.0.016949-0.
  • Erik Pettersson, Joakim Lundeberg, Afshin Ahmadian, Generations of sequencing technologies, „Genomics”, 2, 93, 2009, s. 105–111, DOI: 10.1016/j.ygeno.2008.10.003, PMID: 18992322.
  • Susan M. Wolf i inni, Managing incidental findings and research results in genomic research involving biobanks and archived data sets, „Genetics in Medicine”, 14 (4), 2012, s. 361–384, DOI: 10.1038/gim.2012.23, PMID: 22436882, PMCID: PMC3597341.
  • N.J. Roizen, D. Patterson, Down’s syndrome, „Lancet”, 361 (9365), 2003, s. 1281–1289, DOI: 10.1016/S0140-6736(03)12987-X, PMID: 12699967.
  • K. Patau i inni, Multiple congenital anomaly caused by an extra autosome, „The Lancet”, 790, 1960, DOI: 10.1016/S0140-6736(60)90676-0, PMID: 14430807.
  • Ada Chan i inni, Histogenesis of retinal dysplasia in trisomy 13, „Diagnostic Pathology”, 2 (48), 2007, DOI: 10.1186/1746-1596-2-48.
  • D. Iliopoulos i inni, Patau syndrome with a long survival (146 months): a clinical report and review of literature, „American Journal of Medical Genetics Part A”, 140 (1), 2006, s. 92–93, DOI: 10.1002/ajmg.a.31056, PMID: 16333832.
  • B. Zoll i inni, Trisomy 13 (Patau syndrome) with an 11-year survival, „Clinical Genetics”, 43 (1), 1993, s. 46–50, DOI: 10.1111/j.1399-0004.1993.tb04426.x, PMID: 8462196.
  • A. Nanjiani, A. Hossain, N. Mahgoub, Patau syndrome, „Journal of Neuropsychiatry and Clinical Neurosciences”, 19 (2), 2007, s. 201–202, DOI: 10.1176/jnp.2007.19.2.201, PMID: 17431076.
  • R.J. Gorlin, V.E. Anderson, C.R. Scott, Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another, „The New England Journal of Medicine”, 264, 1961, s. 486–489, DOI: 10.1056/NEJM196103092641004, PMID: 13707262.
  • Maria I. Ferrante i inni, Identification of the gene for oral-facial-digital type I syndrome, „American Journal of Human Genetics”, 68 (3), 2001, s. 569–576, DOI: 10.1086/318802, PMID: 11179005, PMCID: PMC1274470.
  • Shilpa Chetty-John i inni, Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I), „American Journal of Medical Genetics Part A”, 10, 2010, s. 2640–2645, DOI: 10.1002/ajmg.a.33666, PMID: 20818665, PMCID: PMC2963649.
  • Fiorella Gurrieri i inni, Oral–facial–digital syndromes: Review and diagnostic guidelines, „American Journal of Medical Genetics Part A”, 24, 143, 2007, s. 3314–3323, DOI: 10.1002/ajmg.a.32032.
  • D. Donnai, L. Kerzin-Storrar, R. Harris, Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease, „Journal of Medical Genetics”, 2, 24, 1987, s. 84–87, DOI: 10.1136/jmg.24.2.84, PMID: 3560172, PMCID: PMC1049894.
  • M.J. Harrod i inni, Polycystic kidney disease in a patient with the oral-facial-digital syndrome – type I, „Clinical Genetics”, 9 (2), 1976, s. 183–186, DOI: 10.1111/j.1399-0004.1976.tb01565.x, PMID: 1248177.
  • P.C. Mainardi, Cri du Chat syndrome, „Orphanet Journal of Rare Diseases”, 1 (33), 2006, DOI: 10.1186/1750-1172-1-33.
  • N.L. Shannon i inni, An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality, „Journal of Medical Genetics”, 38 (10), 2001, s. 674–679, DOI: 10.1136/jmg.38.10.674, PMID: 11584045, PMCID: PMC1734744.
  • Halil Aslan i inni, Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity, „BMC Pregnancy and Childbirth”, 3 (1), 2003, DOI: 10.1186/1471-2393-3-1, PMID: 12546710, PMCID: PMC149368.
  • Douglas C. Bittel, Merlin G. Butler, Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology, „Expert Reviews in Molecular Medicine”, 7 (14), 2005, DOI: 10.1017/S1462399405009531.
  • Robert D. Nicholls i inni, Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome, „Nature”, 342, 1989, s. 281–285, DOI: 10.1038/342281a0, PMID: 2812027.
  • A.C. Lindgren i inni, Eating behavior in Prader-Willi syndrome, normal weight, and obese control groups, „Journal of Pediatry”, 137 (1), 2000, s. 50–55, DOI: 10.1067/mpd.2000.106563, PMID: 10891821.
  • M.G. Butler, Prader-Willi syndrome: current understanding of cause and diagnosis, „American Journal of Medical Genetics”, 35 (3), 1990, s. 319–332, DOI: 10.1002/ajmg.1320350306, PMID: 2309779.
  • D.A. Stevenson i inni, Gastric rupture and necrosis in Prader-Willi syndrome, „Journal of Pediatric Gastroenterology & Nutrition”, 45 (2), 2007, s. 272–274, DOI: 10.1097/MPG.0b013e31805b82b5, PMID: 17667731, PMCID: PMC3241991.
  • A. Crinò i inni, Hypogonadism and pubertal development in Prader-Willi syndrome, „European Journal of Pediatrics”, 162 (5), 2003, s. 327–333, DOI: 10.1007/s00431-002-1132-4, PMID: 12692714.
  • M. Debbané i inni, Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications, „Schizophrenia Research”, 84 (2–3), 2006, s. 187–193, DOI: 10.1016/j.schres.2006.01.019, PMID: 16545541.
  • Barbara R. Pober, Williams-Beuren Syndrome, „The New England Journal of Medicine”, 362 (3), 2010, s. 239–252, DOI: 10.1056/NEJMra0903074, PMID: 20089974.
  • X. Carrasco i inni, Williams syndrome: Pediatric, neurologic, and cognitive development, „Pediatric Neurology”, 3, 32, 2005, DOI: 10.1016/j.pediatrneurol.2004.09.013.
  • P. Saenger i inni, Recommendations for the diagnosis and management of Turner syndrome, „Journal of Clinical Endocrinology & Metabolism”, 86 (7), 2001, s. 3061–3069, DOI: 10.1210/jcem.86.7.7683, PMID: 11443168.
  • T.E. Kelly, J.E. Ferguson, W. Golden, Survival of fetuses with 45,X: an instructive case and an hypothesis, „American Journal of Medical Genetics Part A”, 42 (6), 1992, s. 825–826, DOI: 10.1002/ajmg.1320420616, PMID: 1554022.
  • C.H. Gravholt, Epidemiological, endocrine and metabolic features in Turner syndrome, „European Journal of Endocrinology”, 151, 2004, s. 657–687, DOI: 10.1590/S0004-27302005000100019, PMID: 16544046 [zarchiwizowane z adresu 2007-09-28].
  • J. Visootsak, J.M. Graham, Klinefelter syndrome and other sex chromosomal aneuploidies, „Orphanet Journal of Rare Diseases”, 1 (42), 2006, DOI: 10.1186/1750-1172-1-42, PMID: 17062147, PMCID: PMC1634840.
  • J.K. Morris i inni, Is the prevalence of Klinefelter syndrome increasing?, „European Journal of Human Genetics”, 16, 2008, s. 163–170, DOI: 10.1038/sj.ejhg.5201956.
  • C.M. Smyth, W.J. Bremner, Klinefelter syndrome, „Archives of Internal Medicine”, 158 (12), 1998, s. 1309–1314, DOI: 10.1001/archinte.158.12.1309, PMID: 9645824.
  • A. Kuliev, Y. Verlinsky, Preimplantation diagnosis: A realistic option for assisted reproduction and genetic practice, „Current Opinion in Obstetrics and Gynecology”, 17 (2), 2005, s. 179–183, DOI: 10.1097/01.gco.0000162189.76349.c5, PMID: 15758612.
  • T.N. Williams, S.K. Obaro, Sickle cell disease and malaria morbidity: a tale with two tails, „Trends in Parasitology”, 27 (7), 2011, s. 315–320, DOI: 10.1016/j.pt.2011.02.004, PMID: 21429801.
  • J.T. Hecht i inni, Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates, „American Journal of Medical Genetics”, 41 (2), 1991, s. 208–211, DOI: 10.1002/ajmg.1320410215, PMID: 1785636.
  • C. Napolitano, S.G. Priori, Brugada syndrome, „Orphanet Journal of Rare Diseases”, 1 (35), 2006, s. 35, DOI: 10.1186/1750-1172-1-35, PMID: 16972995, PMCID: PMC1592481.
  • Peter O. Kwiterovich, Donald S. Fredrickson, Robert I. Levy, Familial Hypercholesterolemia (One Form of Familial Type II Hyperlipoproteinemia). A Study of Its Biochemical, Genetic, and Clinical Presentation in Childhood, „The Journal of Clinical Investigation”, 53 (5), 1974, DOI: 10.1172/JCI107670, PMID: 4363406, PMCID: PMC302610.
  • Ronald M. Summers i inni, Evaluation of the Aortic Root by MRI, „Circulation”, 98 (6), 1998, s. 509–518, DOI: 10.1161/01.CIR.98.6.509, PMID: 9714107.
  • Felipe J. Chaves i inni, Genetic Diagnosis of Familial Hypercholesterolemia in a South European Outbreed Population: Influence of Low-Density Lipoprotein (LDL) Receptor Gene Mutations on Treatment Response to Simvastatin in Total, LDL, and High-Density Lipoprotein Cholesterol, „The Journal of Clinical Endocrinology & Metabolism”, 86 (10), 2001, s. 4926–4932, DOI: 10.1210/jcem.86.10.7899.
  • Kana Yasukawa i inni, Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly, „Journal of Biological Chemistry”, 277, 2002, s. 23670–23674, DOI: 10.1074/jbc.M200974200, PMID: 11973334.
  • J.-D. Fine i inni, The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB, „Journal of the American Academy of Dermatology”, 58 (6), 2008, s. 931–950, DOI: 10.1016/j.jaad.2008.02.004, PMID: 18374450.
  • Ellen G. Pfendner, Sara G. Sadowski, Jouni Uitto, Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis, „Journal of Investigative Dermatology”, 125 (2), 2005, s. 239–243, DOI: 10.1111/j.0022-202X.2005.23818.x, PMID: 16098032.
  • Shoshana Hacham-Zadeh i inni, Epidermolysis bullosa herpetiformis Dowling-Meara in a large family, „J. Am. Acad. Derm.”, 18 (4), 1988, s. 702–706, DOI: 10.1016/S0190-9622(88)70093-6, PMID: 3372762.
  • F.J.D. Smith i inni, Plectin deficiency results in muscular dystrophy with epidermolysis bullosa, „Nature Genetics”, 13, 1996, s. 450–457, DOI: 10.1038/ng0896-450.
  • S. Chavanas i inni, Splicing Modulation of Integrin β4 Pre-mRNA Carrying a Branch Point Mutation Underlies Epidermolysis Bullosa with Pyloric Atresia Undergoing Spontaneous Amelioration With Ageing, „Human Molecular Genetics”, 8 (11), 1999, s. 2097–2105, DOI: 10.1093/hmg/8.11.2097, PMID: 10484780.
  • Frédérique Vidal i inni, Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia, „Nature Genetics”, 10, 1995, s. 229–234, DOI: 10.1038/ng0695-229.
  • L. Ruzzi i inni, A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia, „The Journal of Clinical Investigation”, 99 (12), 1997, DOI: 10.1172/JCI119474, PMID: 9185503, PMCID: PMC508131.
  • J. Diedrichson, D. Talanow, A. Safi, Epidermolysis bullosa dystrophica (Hallopeau-Siemens) an der Hand – Operative Strategie und Ergebnisse, „Handchirurgie, Mikrochirurgie, Plastische Chirurgie”, 37 (5), 2005, s. 316–322, DOI: 10.1055/s-2005-872849, PMID: 16287016.
  • Marie Luise Bisgaard i inni, Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate, „Human Mutation”, 3 (2), 1994, s. 121–125, DOI: 10.1002/humu.1380030206, PMID: 8199592.
  • Daniel S. Ellis, Walter G.J. Putschar, Case 16-1968, „The New England Journal of Medicine”, 278 (16), 1968, s. 899–904, DOI: 10.1056/NEJM196804182781607, PMID: 5641158.
  • E. Coto i inni, Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1), „Journal of Medical Genetics”, 29 (4), 1992, s. 243–246, DOI: 10.1136/jmg.29.4.243, PMID: 1583643, PMCID: PMC1015922.
  • M.L. Watson i inni, Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16, „Journal of Medical Genetics”, 24 (8), 1987, s. 457–461, DOI: 10.1136/jmg.24.8.457, PMID: 2821260, PMCID: PMC1050201.
  • S.E. Pound i inni, Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene, „Journal of Medical Genetics”, 29 (4), 1992, s. 247–248, DOI: 10.1136/jmg.29.4.247, PMID: 1583644, PMCID: PMC1015923.
  • G. Wu, S. Somlo, Molecular genetics and mechanism of autosomal dominant polycystic kidney disease, „Molecular Genetics and Metabolism”, 69 (1), 2000, s. 1–15, DOI: 10.1006/mgme.1999.2943, PMID: 10655152.
  • Henry T. Lynch, Albert de la Chapelle, Hereditary colorectal cancer, „The New England Journal of Medicine”, 348 (10), 2003, s. 919–932, DOI: 10.1056/NEJMra012242, PMID: 12621137.
  • Henry T. Lynch, Jane F. Lynch, Thomas A. Attard, Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model, „Canadian Medical Association Journal”, 181 (5), 2009, s. 273–280, DOI: 10.1503/cmaj.071574, PMID: 19654196, PMCID: PMC2734205.
  • Henry T. Lynch i inni, Adenocarcinoma of the small bowel in lynch syndrome II, „Cancer”, 64 (10), 1989, s. 2178–2183, DOI: 10.1002/1097-0142(19891115)64:10<2178::AID-CNCR2820641033>3.0.CO;2-0, PMID: 2804907.
  • H.F. Vasen i inni, Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis, „Gastroenterology”, 110 (4), 1996, s. 1020–1027, DOI: 10.1053/gast.1996.v110.pm8612988, PMID: 8612988.
  • Markku Aarnio i inni, Cancer risk in mutation carriers of DNA-mismatch-repair genes, „International Journal of Cancer”, 81 (2), 1999, s. 214–218, DOI: 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L, PMID: 10188721.
  • Y. Parc i inni, Cancer risk in 348 French MSH2 or MLH1 gene carriers, „Journal of Medical Genetics”, 40 (3), 2003, s. 208–213, DOI: 10.1136/jmg.40.3.208, PMID: 12624141, PMCID: PMC1735402.
  • Brendan Lee i inni, Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes, „Nature”, 352, 1991, s. 330–334, DOI: 10.1038/352330a0, PMID: 1852206.
  • Nicholas S. Hendren, Shreya Rao, Purav Mody, Acute onset heart failure due to Marfan syndrome, „Case Reports in Internal Medicine”, 3 (4), 2016, s. 78–83, DOI: 10.5430/crim.v3n4p78.
  • Hsin-Hui Chiu i inni, Epidemiological profile of Marfan syndrome in a general population: a national database study, „Mayo Clinic Proceedings”, 89 (1), 2014, s. 34–42, DOI: 10.1016/j.mayocp.2013.08.022, PMID: 24388020.
  • Tracy Hagerty, Patrick Geraghty, Alan C. Braverman, Abdominal Aortic Aneurysm in Marfan Syndrome, „Annals of Vascular Surgery”, 2016, DOI: 10.1016/j.avsg.2016.07.067.
  • Koichi Akutsu i inni, Characteristics in Phenotypic Manifestations of Genetically Proved Marfan Syndrome in a Japanese Population, „The American Journal of Cardiology”, 103 (8), 2009, s. 1146–1148, DOI: 10.1016/j.amjcard.2008.12.037, PMID: 19361604.
  • Fernando De Maio i inni, Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases, „Advances in Orthopedics”, ID 8275391, 2016, DOI: 10.1155/2016/8275391.
  • M.F. Koller i inni, Evidence of a genetic basis of Morgagni-Stewart-Morel syndrome. A case report of identical twins, „Neuro-degenerative diseases”, 2 (2), 2005, s. 56–60, DOI: 10.1159/000089284, PMID: 16909048.
  • Phillip T. Knies, H.E. Le Fever, Metabolic Craniopathy: Hyperostosis Frontalis Interna, „Annals of Internal Medicine”, 14 (10), 1941, s. 1858–1892, DOI: 10.7326/0003-4819-14-10-1858.
  • M. Pawlikowski, J. Komorowski, Hyperostosis frontalis, galactorrhoea/hyperprolactinaemia, and Morgagni-Stewart-Morel syndrome, „The Lancet”, 321 (8322), 1983, s. 474, DOI: 10.1016/S0140-6736(83)91470-8, PMID: 6131191.
  • C.G. Gegick i inni, Hyperostosis frontalis interna and hyperphosphatasemia, „Annals of Internal Medicine”, 79 (1), 1973, s. 71–75, DOI: 10.7326/0003-4819-79-1-71, PMID: 4721177.
  • Pooya Khan Mohammad Beigi, Emanual Maverakis, Acrodermatitis Enteropathica. A Clinician’s Guide, Springer International Publishing, 2015, DOI: 10.1007/978-3-319-17819-6, ISBN 978-3-319-17819-6.
  • Victor A. McKusick, Mendelian Inheritance in Man and Its Online Version, OMIM, „American Journal of Human Genetics”, 80 (4), 2017, s. 588–604, DOI: 10.1086/514346, PMID: 17357067, PMCID: PMC1852721.
  • Diego Prieto Roces i inni, Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study, „Human Molecular Genetics”, 13 (18), 2004, s. 1979–1988, DOI: 10.1093/hmg/ddh220, PMID: 15269179.
  • Yasuo Gotoda i inni, Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis, „American Journal of Human Genetics”, 63 (4), 1998, s. 1015–1024, DOI: 10.1086/302048, PMID: 9758606.
  • Livia Poenaru i inni, Antenatal diagnosis in three pregnancies at risk for mannosidosis, „Clinical Genetics”, 16 (6), 1980, s. 428–432, DOI: 10.1111/j.1399-0004.1979.tb01351.x, PMID: 393435.
  • P.A. Öckerman, A generalized storage disorder resembling Hurler’s syndrome, „The Lancet”, 290 (7509), 1967, s. 239–241, DOI: 10.1016/S0140-6736(67)92303-3.
  • Dag Malm, Øivind Nilssen, Alpha-mannosidosis, „Orphanet Journal of Rare Diseases”, 3 (1), 2008, s. 21, DOI: 10.1186/1750-1172-3-21, PMID: 18651971.
  • Y.P. Goldberg i inni, Human Mendelian pain disorders: a key to discovery and validation of novel analgesics, „Clinical Genetics”, 82 (4), 2012, s. 367–373, DOI: 10.1111/j.1399-0004.2012.01942.x.
  • Catherine Booth, Baba Inusa, Stephen K. Obaro, Infection in sickle cell disease: a review, „International Journal of Infectious Diseases”, 14 (1), 2010, s. e2–e12, DOI: 10.1016/j.ijid.2009.03.010, PMID: 19497774.
  • David C. Rees, Thomas N. Williams, Mark T. Gladwin, Sickle-cell disease, „The Lancet”, 376 (9757), 2010, s. 2018–2031, DOI: 10.1016/S0140-6736(10)61029-X, PMID: 21131035.
  • N.P. Davies i inni, Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation, „Neurology”, 65 (7), 2005, s. 1083–1089, DOI: 10.1212/01.wnl.0000178888.03767.74, PMID: 16217063.
  • Gisela Nogales-Gadea i inni, Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease, „Brain: A Journal of Neurology”, Pt 7, 2012, s. 2048–2057, DOI: 10.1093/brain/aws141, PMID: 22730558.
  • Andrea Martinuzzi i inni, McArdle’s disease. The unsolved mystery of the reappearing enzyme, „The American Journal of Pathology”, 154 (6), 1999, s. 1893–1897, DOI: 10.1016/S0002-9440(10)65447-8, PMID: 10362816, PMCID: PMC1866615.
  • Renata Siciliani Scalco i inni, From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease, „Arquivos De Neuro-Psiquiatria”, 72 (7), 2014, s. 538–541, DOI: 10.1590/0004-282X20140062, PMID: 25054987.
  • R. Quinlivan i inni, McArdle disease: a clinical review, „Journal of Neurology, Neurosurgery, and Psychiatry”, 81 (11), 2010, s. 1182–1188, DOI: 10.1136/jnnp.2009.195040, PMID: 20861058.
  • Suhrad G. Banugaria i inni, The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease, „Genetics in Medicine”, 13 (8), 2011, s. 729–736, DOI: 10.1097/GIM.0b013e3182174703, PMID: 21637107, PMCID: PMC3954622.
  • Daniel Forsha i inni, Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy, „Genetics in Medicine”, 13 (7), 2011, s. 625–631, DOI: 10.1097/GIM.0b013e3182142966, PMID: 21543987, PMCID: PMC3138812.
  • A.E. Slonim i inni, Identification of two subtypes of infantile acid maltase deficiency, „The Journal of Pediatrics”, 137 (2), 2000, s. 283–285, DOI: 10.1067/mpd.2000.107112, PMID: 10931430.
  • Suhrad G. Banugaria i inni, The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease, „Genetics in Medicine”, 13 (8), 2011, s. 729–736, DOI: 10.1097/GIM.0b013e3182174703, PMID: 21637107, PMCID: PMC3954622.
  • Takahiro Hamada. W.H. Irwin McLean i inni, Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1), „Human Molecular Genetics”, 11 (7), 2002, s. 833–840, DOI: 10.1093/hmg/11.7.833, PMID: 11929856.
  • Michaela Siebert, Hans J. Markowitsch, Peter Bartel, Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease, „Brain”, 126 (12), 2003, s. 2627–2637, DOI: 10.1093/brain/awg271, PMID: 12937075.
  • Peter C. Bull i inni, The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene, „Nature Genetics”, 5 (4), 1993, s. 327–337, DOI: 10.1038/ng1293-327, PMID: 8298639.
  • J. Macías-Vidal i inni, Analysis of the CTNS gene in 32 cystinosis patients from Spain, „Clinical Genetics”, 76 (5), 2009, s. 486–489, DOI: 10.1111/j.1399-0004.2009.01222.x.
  • Geraldine A. McDowell i inni, Linkage of the gene for cystinosis to markers on the short arm of chromosome 17, „Nature Genetics”, 10 (2), 1995, s. 246–248, DOI: 10.1038/ng0695-246.
  • Fiona Lalloo, D. Gareth R. Evans, The pathology of familial breast cancer: Clinical and genetic counselling implications of breast cancer pathology, „Breast Cancer Research”, 1, 1999, s. 48–51, DOI: 10.1186/bcr13.
  • G.L. Harton i inni, ESHRE PGD Consortium Best Practice Guidelines for FISH-Based Preimplantation Genetic Diagnosis (PGD), „Human Reproduction”, 26 (1), 2011, s. 25–32, DOI: 10.1093/humrep/deq230.
  • Marcel R. Zurflüh i inni, Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, „Human Mutation”, 29 (1), 2008, s. 167–175, DOI: 10.1002/humu.20637.
  • Joachim Pietz i inni, Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria, „The Journal of Clinical Investigation”, 103 (8), 1999, s. 1169–1178, DOI: 10.1172/JCI5017, PMID: 10207169, PMCID: PMC408272.
  • J.N. Feder i inni, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, „Nature Genetics”, 13 (4), 1996, s. 399–408, DOI: 10.1038/ng0896-399, PMID: 8696333.
  • Paul C. Adams, James C. Barton, Haemochromatosis, „The Lancet”, 370 (9602), 2007, s. 1855–1860, DOI: 10.1016/S0140-6736(07)61782-6, PMID: 18061062.
  • Z.J. Bulaj i inni, Clinical and biochemical abnormalities in people heterozygous for hemochromatosis, „The New England Journal of Medicine”, 335 (24), 1996, s. 1799–1805, DOI: 10.1056/NEJM199612123352403, PMID: 8943161.
  • S. Harvey Mudd i inni, Homocystinuria: An enzymatic defect, „Science”, 143 (3613), 1964, s. 1443–1445, DOI: 10.1126/science.143.3613.1443, PMID: 14107447.
  • Edith Wilson Miles, Jan P. Kraus, Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations, „Journal of Biological Chemistry”, 279, 2004, s. 29871–29874, DOI: 10.1074/jbc.R400005200.
  • Brian Fowler i inni, Homocystinuria: evidence for three distinct classes of cystathionine β-synthase mutants in cultured fibroblasts, „The Journal of Clinical Investigation”, 61 (3), 1978, DOI: 10.1172/JCI108976, PMID: 641146, PMCID: PMC372577.
  • Geoff H. Werstuck i inni, Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways, „The Journal of Clinical Investigation”, 107 (10), 2001, DOI: 10.1172/JCI11596, PMID: 11375416, PMCID: PMC209295.
  • B. William Uhlendorf, S. Harvey Mudd, Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria, „Science”, 160 (3831), 1968, s. 1007–1009, DOI: 10.1126/science.160.3831.1007, PMID: 5647845.
  • Ailish Nugent, David R Hadden, Nina AJ Carson, Long-term survival of homocystinuria: the first case, „Lancet”, 352 (9128), 1998, s. 624–625, DOI: 10.1016/S0140-6736(05)79579-9, PMID: 9746031.
  • Sufin Yap i inni, Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study, „Arteriosclerosis, Thrombosis, and Vascular Biology”, 21 (12), 2001, s. 2080–2085, DOI: 10.1161/hq1201.100225, PMID: 11742888.
  • J.D. Schulman i inni, Pulmonary embolism in a homocystinuric patient during treatment with dipyridamole and acetylsalicylic acid, „The New England Journal of Medicine”, 299 (12), 1978, s. 661, DOI: 10.1056/NEJM197809212991212, PMID: 683242.
  • D. Kerrin i inni, Homocystinuria presenting with sagittal sinus thrombosis in infancy, „Journal of Child Neurology”, 11 (1), 1996, s. 70–71, DOI: 10.1177/088307389601100118, PMID: 8745393.
  • K Ichida i inni, Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria, „Journal of Clinical Investigation”, 99 (10), 1997, s. 2391–2397, DOI: 10.1172/JCI119421, PMID: 9153281, PMCID: PMC508078.
  • C.E. Dent, G.R. Philpot, Xanthinuria, an inborn error (or deviation) of metabolism, „The Lancet”, 266 (6804), 1954, s. 182–185, DOI: 10.1016/S0140-6736(54)91257-X, PMID: 13118765.
  • R. Hille, Structure and Function of Xanthine Oxidoreductase, „European Journal of Inorganic Chemistry”, 10, 2006, s. 1913–1926, DOI: 10.1002/ejic.200600087.
  • Rolf Ohman, Hans Ekelund, Lars Svennerholm, The Diagnosis of Tay-Sachs Disease1, „Acta Pædiatrica”, 60 (4), 1971, s. 399–406, DOI: 10.1111/j.1651-2227.1971.tb06678.x, ISSN 1651-2227 [dostęp 2017-04-05] (ang.).
  • Marina Jmoudiak, Anthony H. Futerman, Gaucher disease: pathological mechanisms and modern management, „British Journal of Haematology”, 129 (2), 2005, s. 178–188, DOI: 10.1111/j.1365-2141.2004.05351.x, PMID: 15813845.
  • J.T. Clarke, Narrative review: Fabry disease, „Annals of Internal Medicine”, 146 (6), 2007, s. 425–433, DOI: 10.7326/0003-4819-146-6-200703200-00007, PMID: 17371887.
  • Marieke Levitus i inni, Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes, „Blood”, 103 (7), 2004, s. 2498–2503, DOI: 10.1182/blood-2003-08-2915, PMID: 14630800.
  • P. David Kelsell i inni, Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis, „American Journal of Human Genetics”, 76 (5), 2005, s. 794–803, DOI: 10.1086/429844, PMID: 15756637, PMCID: PMC1199369.
  • F. Marlhens i inni, Mutations in RPE65 cause Leber’s congenital amaurosis, „Nature Genetics”, 17 (2), 1997, s. 139–141, DOI: 10.1038/ng1097-139, PMID: 9326927.
  • Tom Hearn i inni, Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome, „Nature Genetics”, 31, 2002, s. 79–83, DOI: 10.1038/ng874, PMID: 11941370.
  • Jan D. Marshall i inni, Alström Syndrome, „European Journal of Human Genetics”, 15, 2007, s. 1193–1202, DOI: 10.1038/sj.ejhg.5201933.
  • Tisha Joy i inni, Alstrom syndrome (OMIM 203800): a case report and literature review, „Orphanet Journal of Rare Diseases”, 2 (49), 2007, DOI: 10.1186/1750-1172-2-49.
  • Joel E. Straughen i inni, A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom’s syndrome gene, „Human Mutation”, 11 (2), 1998, s. 175–178, DOI: 10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W, PMID: 9482582.
  • M. Amor-Guéret, Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis, „Cancer Letters”, 236 (1), 2006, s. 1–12, DOI: 10.1016/j.canlet.2005.04.023, PMID: 15950375.
  • O. Higashi, Congenital gigantism of peroxidase granules. The first case ever reported of qualitative abnormality of proxidase, „Tohoku Journal of Experimental Medicine”, 59 (3), 1954, s. 315–332, DOI: 10.1620/tjem.59.315, PMID: 13169161.
  • A. Slominski, G. Ermak, M. Mihm, ACTH receptor, CYP11A1, CYP17 and CYP21A2 genes are expressed in skin, „The Journal of Clinical Endocrinology & Metabolism”, 87 (7), 1996, s. 2746–2749, DOI: 10.1210/jcem.81.7.8675607.
  • F.B. Axelrod, G. Gold-von Simson, Hereditary sensory and autonomic neuropathies: types II, III, and IV, „Orphanet Journal of Rare Diseases”, 2, 2007, s. 39, DOI: 10.1186/1750-1172-2-39, PMID: 17915006, PMCID: PMC2098750.
  • S.A. Slaugenhaupt i inni, Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia, „American Journal of Human Genetics”, 68 (3), 2001, s. 598–605, DOI: 10.1086/318810, PMID: 11179008, PMCID: PMC1274473.
  • Isabelle Coupry i inni, Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR, „Human Mutation”, 23 (3), 2004, s. 278–284, DOI: 10.1002/humu.20001, PMID: 14974086.
  • Angela Bentivegna i inni, Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, „BMC Medical Genetics”, 7 (77), 2006, DOI: 10.1186/1471-2350-7-77, PMID: 17052327, PMCID: PMC1626071.
  • Nicola C. Ho i inni, Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report, „BMC Neurology”, 3 (3), 2003, DOI: 10.1186/1471-2377-3-3, PMID: 12839625, PMCID: PMC166146.
  • Nathalie Dagoneau i inni, Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, „American Journal of Human Genetics”, 74 (2), 2004, s. 298–305, DOI: 10.1086/381715, PMID: 14740318, PMCID: PMC1181927.
  • Annick Raas-Rothschild i inni, Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome, „American Journal of Medical Genetics Part A”, 121A (2), 2003, s. 156–158, DOI: 10.1002/ajmg.a.20066, PMID: 12910496.
  • M. Di Rocco i inni, Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia, „American Journal of Medical Genetics Part A”, 118A (4), 2003, s. 362–368, DOI: 10.1002/ajmg.a.10242, PMID: 12687669.
  • L.I. Al-Gazali i inni, Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features, „Clin Dysmorphol”, 12 (1), 2003, s. 1–8, DOI: 10.1097/01.mcd.0000049260.13501.ec, PMID: 12514358.
  • Isabel Mendes Gaspar i inni, Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report, „American Journal of Medical Genetics Part A”, 146A (13), 2008, s. 1748–1753, DOI: 10.1002/ajmg.a.32325, PMID: 18546280.
  • John Gardiner i inni, Defects in tongue papillae and taste sensation indicate a problem with neurotrophic support in various neurological diseases, „Neuroscientist”, 14 (3), 2008, s. 240–250, DOI: 10.1177/1073858407312382, PMID: 18270312.
  • Nanna D. Rendtorff i inni, Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment, „American Journal of Medical Genetics Part A”, 155 (6), 2011, s. 1298–1313, DOI: 10.1002/ajmg.a.33970, PMID: 21538838, PMCID: PMC3100366.
  • P. Ferrier, F. Bamatter, D. Klein, Muscular Dystrophy (Duchenne) in a Girl with Turner’s Syndrome, „Journal of Medical Genetics”, 2 (1), 1965, s. 38–46, DOI: 10.1136/jmg.2.1.38, PMID: 14296923, PMCID: PMC1012803.
  • L. Tranebjaerg i inni, A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22, „Journal of Medical Genetics”, 32 (4), 1995, s. 257–263, DOI: 10.1136/jmg.32.4.257, PMID: 7643352 (ang.).
  • E.E.J. Smeets, K. Pelc, B. Dan, Rett Syndrome, „Molecular Syndromology”, 2 (3–5), 2012, s. 113–127, DOI: 10.1159/000337637, ISSN 1661-8769, PMID: 22670134, PMCID: PMC3366703 [dostęp 2017-08-06].
  • Joel M. Gottesfeld, Small molecules affecting transcription in Friedreich ataxia, „Pharmacology & Therapeutics”, 116 (2), 2007, s. 236–48, DOI: 10.1016/j.pharmthera.2007.06.014, PMID: 17826840, PMCID: PMC2080619.
  • J.M. Cooper, A.H.V. Schapira, Friedreich’s ataxia: coenzyme Q10 and vitamin E therapy, „Mitochondrion”, 7 (Suppl), 2007, s. S127-35, DOI: 10.1016/j.mito.2007.04.001, PMID: 17485244.
  • Albert R. La Spada i inni, Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy, „Nature Genetics”, 4, 1992, s. 301–304, DOI: 10.1038/ng1292-301.
  • Natasha J. Caplen i inni, Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference, „Human Molecular Genetics”, 2, 2002, s. 175–184, DOI: 10.1093/hmg/11.2.175, PMID: 11809726.
  • S. Dejager i inni, A Comprehensive Endocrine Description of Kennedy’s Disease Revealing Androgen Insensitivity Linked to CAG Repeat Length, „The Journal of Clinical Endocrinology & Metabolism”, 8, 2002, s. 3893–3901, DOI: 10.1210/jcem.87.8.8780.
  • E.C. Twist i inni, Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus., „Journal of Medical Genetics”, 1, 1995, s. 25–31, DOI: 10.1136/jmg.32.1.25, PMID: 7897622.
  • André Toulouse i inni, Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts, „Human Molecular Genetics”, 18, 2005, s. 2649–2660, DOI: 10.1093/hmg/ddi299, PMID: 16087686.
  • S. Gispert i inni, Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1, „Nature Genetics”, 3, 1993, s. 295–299, DOI: 10.1038/ng0793-295.
  • A Trott i inni, Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings, „Clinical Genetics”, 2, 2006, s. 173–176, DOI: 10.1111/j.1399-0004.2006.00656.x.
  • Zuzana Musova i inni, Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene, „American Journal of Medical Genetics Part A”, 7, 2009, s. 1365–1374, DOI: 10.1002/ajmg.a.32987.
  • P. Turnpenny, C. Clark, K. Kelly, Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification., „Journal of Medical Genetics”, 4, 1994, s. 300–305, DOI: 10.1136/jmg.31.4.300, PMID: 8071955.

doi.org

  • F.O. Walker. Huntington’s disease. „Lancet”. 369 (9557), s. 218–228, 2007. DOI: 10.1016/S0140-6736(07)60111-1. PMID: 17240289. 
  • R. Steffen. Zahnanomalien als Hinweis zur Diagnose einer genetischen Erkrankung – ein Fallbericht. „Medizinische Genetik”. 19 (4). s. 432–434. DOI: 10.1007/s11825-007-0047-x. 
  • Wynn, J.; King, T.M.; Gambello, M.J.; Waller, D.K.; Hecht, J.T. Mortality in achondroplasia study: a 42-year follow-up. „Am J Med Genet A”. 143A (21), s. 2502–2511, 2007. DOI: 10.1002/ajmg.a.31919. PMID: 17879967. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Dakouane Giudicelli, M.; Serazin, V.; Le Sciellour, C.R.; Albert, M.; Selva, J. Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies. „Fertil Steril”. 89 (6), s. 1651–1656, 2008. DOI: 10.1016/j.fertnstert.2007.04.037. PMID: 17706214. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Leoz, M.L.; Carballal, S.; Moreira, L.; Ocaña, T.; Balaguer, F. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. „Appl Clin Genet”. 8, s. 95–107, 2015. DOI: 10.2147/TACG.S51484. PMID: 25931827. PMCID: PMC4404874. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Campos, F.G.; Sulbaran, M.; Safatle-Ribeiro, A.V.; Martinez, C.A. Duodenal adenoma surveillance in patients with familial adenomatous polyposis. „World J Gastrointest Endosc”. 7 (10), s. 950–959, 2015. DOI: 10.4253/WJGE.v7.i10.950. PMID: 26265988. PMCID: PMC4530328. 
  • Steinhagen, E.; Guillem, J.G.; Chang, G.; Salo-Mullen, E.E.; Shia, J. The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized. „Clin Colorectal Cancer”. 11 (4), s. 304–308, 2012. DOI: 10.1016/j.clcc.2012.01.006. PMID: 22425061. 
  • Aretz, S.; Koch, A.; Uhlhaas, S.; Friedl, W.; Propping, P. Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?. „Pediatr Blood Cancer”. 47 (6), s. 811–818, 2006. DOI: 10.1002/pbc.20698. PMID: 16317745. 
  • Hughes, L.J.; Michels, V.V. Risk of hepatoblastoma in familial adenomatous polyposis. „Am J Med Genet”. 43 (6), s. 1023–1025, 1992. DOI: 10.1002/ajmg.1320430621. PMID: 1329510. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Groen, E.J.; Roos, A.; Muntinghe, F.L.; Enting, R.H.; de Vries, J. Extra-intestinal manifestations of familial adenomatous polyposis. „Ann Surg Oncol”. 15 (9), s. 2439–2450, 2008. DOI: 10.1245/s10434-008-9981-3. PMID: 18612695. PMCID: PMC2518080. 
  • Sanders, R.P.; Furman, W.L. Familial adenomatous polyposis in two brothers with hepatoblastoma: implications for diagnosis and screening. „Pediatr Blood Cancer”. 47 (6), s. 851–854, 2006. DOI: 10.1002/pbc.20556. PMID: 16106429. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Giardiello, F.M.; Offerhaus, G.J.; Lee, D.H.; Krush, A.J.; Tersmette, A.C. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. „Gut”. 34 (10), s. 1394–1396, 1993. DOI: 10.1136/gut.34.10.1394. PMID: 8244108. PMCID: PMC1374548. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Maire, F.; Hammel, P.; Terris, B.; Olschwang, S.; O’Toole, D. Intraductal papillary and mucinous pancreatic tumour: a new extracolonic tumour in familial adenomatous polyposis. „Gut”. 51 (3), s. 446–449, 2002. DOI: 10.1136/gut.51.3.446. PMID: 12171972. PMCID: PMC1773367. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Half, E.; Bercovich, D.; Rozen, P. Familial adenomatous polyposis. „Orphanet J Rare Dis”. 4 (1), s. 22, 2009. DOI: 10.1186/1750-1172-4-22. PMID: 19822006. PMCID: PMC2772987. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Sriboonnark, L.; Arora, H.; Falto-Aizpurua, L.; Choudhary, S.; Connelly, E.A. Costello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment. „Case Rep Pediatr”. 2015, s. 934865, 2015. DOI: 10.1155/2015/934865. PMID: 25815234. 
  • Magdalena Pelc, Elżbieta Ciara, Małgorzata Krajewska-Walasek. Zespół Costello jako przykład rzadkich zaburzeń funkcji szlaku sygnalnego Ras-MAPK: obraz kliniczny i diagnostyka molekularna choroby. „Pediatria Polska”. 87 (1), s. 19–32, 2012. DOI: 10.1016/S0031-3939(12)70590-5. 
  • publikacja w otwartym dostępie – możesz ją przeczytać K.E. Resnick, H. Hampel, R. Fishel, D.E. Cohn. Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. „Gynecol Oncol”. 114 (1), s. 128–134, 2009. DOI: 10.1016/j.ygyno.2009.03.003. PMID: 19375789. PMCID: PMC2841434. 
  • A. de la Chapelle. The incidence of Lynch syndrome. „Fam Cancer”. 4 (3), s. 233–237, 2005. DOI: 10.1007/s10689-004-5811-3. PMID: 16136383. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Baiocchi, G.L.; Portolani, N.; Vermi, W.; Baronchelli, C.; Gheza, F. Lynch syndrome from a surgeon perspective: retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old. „BMC Surg”. 14, s. 9, 2014. DOI: 10.1186/1471-2482-14-9. PMID: 24533633. PMCID: PMC3996083. 
  • Chung, D.C.; Rustgi, A.K. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. „Ann Intern Med”. 138 (7), s. 560–570, 2003. DOI: 10.7326/0003-4819-138-7-200304010-00012. PMID: 12667026. 
  • Robert Śmigiel, Aleksandra Jakubiak, Michał Błoch, Renata Posmyk, Bożena Marszałek-Kruk. Heterogenność kliniczna i genetyczna dyzostoz twarzowych. „Pediatria Polska”. 90 (1), s. 1–12, 2015. DOI: 10.1016/j.pepo.2014.10.004. 
  • Myrtelle M. Canavan. Schilder’s encephalitis periaxialis diffusa. Report of a case in a child aged sixteen and one-half months. „Archives of Neurology and Psychiatry”. 25 (2), s. 299–308, 1931. DOI: 10.1001/archneurpsyc.1931.02230020085005. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Marlene Attard, Geneviève Jean, Lionel Forestier, Stèphanie Cherqui, William van’t Hoff. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. „Human Molecular Genetics”. 13, s. 2507–2514, 1999. DOI: 10.1093/hmg/8.13.2507. PMID: 10556299. 
  • Asbjörn Fölling. Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. „Ztschr Physiol Chem”. 227 (1–4), s. 169–176, 1934. DOI: 10.1515/bchm2.1934.227.1-4.169. 
  • Annet M. Bosch. Classical galactosaemia revisited. „Journal of Inherited Metabolic Disease”. 29 (4), s. 516–525, 2006. DOI: 10.1007/s10545-006-0382-0. 
  • Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Cystathionine beta-synthase mutations in homocystinuria. „Hum Mutat”. 13, s. 362–375, 1999. DOI: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. PMID: 10338090. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Mudd SH, Finkelstein JD, Refsum H, Ueland PM, Malinow MR, Lentz SR, Jacobsen DW, Brattstrom L, Wilcken B, Wilcken DE, Blom HJ, Stabler SP, Allen RH, Selhub J, Rosenberg IH. Homocysteine and its disulfide derivatives: a suggested consensus terminology. „Arterioscler Thromb Vasc Biol”. 20 (7), s. 1704–1706, 2000. DOI: 10.1161/01.ATV.20.7.1704. PMID: 10894806. 
  • publikacja w otwartym dostępie – możesz ją przeczytać G. Di Minno, G. Davì, M. Margaglione, F. Cirillo, E. Grandone. Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism. „The Journal of Clinical Investigation”. 92 (3), 1993. DOI: 10.1172/JCI116715. PMID: 8376592. PMCID: PMC288283. 
  • Abbott, M.H.; Folstein, S.E.; Abbey, H.; Pyeritz, R.E. Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. „American Journal of Medical Genetics”. 26 (4), s. 959–969, 1987. DOI: 10.1002/ajmg.1320260427. PMID: 3591841. 
  • Dörk, T.; Macek, M.; Mekus, F.; Tümmler, B.; Tzountzouris, J. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. „Hum Genet”. 106 (3), s. 259–268, 2000. DOI: 10.1007/s004390000246. PMID: 10798353. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Kerem, E.; Corey, M.; Kerem, B.S.; Rommens, J.; Markiewicz, D. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). „N Engl J Med”. 323 (22), s. 1517–1522, 1990. DOI: 10.1056/NEJM199011293232203. PMID: 2233932. 
  • Gabriel, S.E.; Brigman, K.N.; Koller, B.H.; Boucher, R.C.; Stutts, M.J. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. „Science”. 266 (5182), s. 107–109, 1994. DOI: 10.1126/science.7524148. PMID: 7524148. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Collazo, T.; Bofill, A.M.; Clark. Y.; Hernández, Y.; Gómez, M.; Rodríguez, F.; Ramos, M.D.; Giménez, J.; Casals, T.; Rojo, M. Common mutations in cuban cystic fibrosis patients. „Journal of Cystic Fibrosis”. 8 (1), s. 47–49, 2009. DOI: 10.1016/j.jcf.2008.09.004. PMID: 18938114. 
  • Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F et al. Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trial.. „Lancet”. 374 (9701), s. 1597–1605, 2009. DOI: 10.1016/S0140-6736(09)61836-5. PMID: 19854499. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Triggs-Raine, B.; Salo, T.J.; Zhang, H.; Wicklow, B.A.; Natowicz, M.R. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. „Proc Natl Acad Sci U S A”. 96 (11), s. 6296–6300, 1999. DOI: 10.1073/pnas.96.11.6296. PMID: 10339581. 
  • Masoud Reza Manaviat, Maryam Rashidi, Seyed Mohammad Mohammadi. Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reports. „Cases Journal”. 2 (9355), 2009. DOI: 10.1186/1757-1626-2-9355. 
  • A. Rötig, V. Cormier, P. Chatelain, R. Francois i inni. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). „J Clin Invest”. 91 (3), s. 1095–1098, 1993. DOI: 10.1172/JCI116267. PMID: 8383698. 
  • H. Inoue, Y. Tanizawa, J. Wasson, P. Behn i inni. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). „Nat Genet”. 20 (2), s. 143–148, 1998. DOI: 10.1038/2441. PMID: 9771706. 
  • H. El-Shanti, A.C. Lidral, N. Jarrah, L. Druhan i inni. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. „Am J Hum Genet”. 66 (4), s. 1229–1236, 2000. DOI: 10.1086/302858. PMID: 10739754. 
  • Von Graefe A. Bemerkungen über Tarsoraphie. „[Graefe’s] Arch Ophthal”. 4, s. 201–210, 1858. DOI: 10.1007/BF02720744. 
  • M. Swift, R.G. Swift. Wolframin mutations and hospitalization for psychiatric illness. „Mol Psychiatry”. 10 (8), s. 799–803, 2005. DOI: 10.1038/sj.mp.4001681. PMID: 15852062. 
  • Filosto M., Tomelleri G., Tonin P., Scarpelli M., Vattemi G., Rizzuto N., Padovani A., Simonati A. Neuropathology of mitochondrial diseases. „Bioscience reports”. 1–3 (27), s. 23–30, 2007. DOI: 10.1007/s10540-007-9034-3. PMID: 17541738. 
  • Hinttala R, Smeets R, Moilanen JS, Ugalde C, Uusimaa J, Smeitink JA, Majamaa K. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. „J Med Genet”. 43. 11, s. 881–886, 2006. DOI: 10.1136/jmg.2006.042168. PMID: 16738010. 
  • Sudo A, Honzawa S, Nonaka I, Goto Y. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. „J Hum Genet”. 49. 2, s. 92–96, 2004. DOI: 10.1007/s10038-003-0116-1. PMID: 14730434. 
  • Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. „Ann Neurol”. 54. 5, s. 665–669, 2003. DOI: 10.1002/ana.10734. PMID: 14595656. 
  • Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. „Nat Genet”. 21. 3, s. 260–261, 1999. DOI: 10.1038/6772. PMID: 10080174. 
  • Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. „Nat Genet”. 11. 2, s. 144–149, 1995. DOI: 10.1038/ng1095-144. PMID: 7550341. 
  • de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. „Nat Genet”. 29. 1, s. 57–60, 2001. DOI: 10.1038/ng706. PMID: 11528392. 
  • Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. „Eur J Pediatr”. 162. 10, s. 714–718, 2003. DOI: 10.1007/s00431-003-1282-z. PMID: 12925875. 
  • Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, Delberghe X, Martin JJ, Gillerot Y. Coenzyme Q-responsive Leigh’s encephalopathy in two sisters. „Ann Neurol”. 52. 6, s. 750–754, 2002. DOI: 10.1002/ana.10371. PMID: 12447928. 
  • S.G. Pavlakis, P.C. Phillips, S. DiMauro, D.C. De Vivo i inni. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. „Ann Neurol”. 16 (4), s. 481–488, 1984. DOI: 10.1002/ana.410160409. PMID: 6093682. 
  • Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. „Cases J”. 1. 1, s. 158, 2008. DOI: 10.1186/1757-1626-1-158. PMID: 18801184. 
  • Kim BE., Smith K., Meagher CK., Petris MJ. A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. „The Journal of biological chemistry”. 46 (277), s. 44079–44084, 2002. DOI: 10.1074/jbc.M208737200. PMID: 12221109. 
  • JR Mendell, Z Sahenk, TW Prior. The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability. „J Child Neurol”. 10 (2), s. 150–159, 1995. DOI: 10.1177/088307389501000219. PMID: 7782608. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Clarke, Sarah L.N.; Bowron, Ann; Gonzalez, Iris L.; Groves, Sarah J.; Newbury-Ecob, Ruth; Clayton, Nicol; Martin, Robin P.; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M.; McCurdy, Katherine R.; Damin, Michaela K.; Spencer, Carolyn T.; Toth, Matthew J.; Kelley, Richard I.; Steward, Colin G. Barth syndrome. „Orphanet Journal of Rare Diseases”. 8, 2013. DOI: 10.1186/1750-1172-8-23. PMID: 23398819. PMCID: PMC3583704. 
  • Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. „Nat Genet”. 14. 2, s. 177–180, 1996. DOI: 10.1038/ng1096-177. PMID: 8841189. 
  • Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH. The genotype of the original Wiskott phenotype. „N. Engl. J. Med.”. 355 (17), s. 1790–1793, 2006. DOI: 10.1056/NEJMoa062520. PMID: 17065640. 
  • Jin Y., Mazza C., Christie JR., Giliani S., Fiorini M., Mella P., Gandellini F., Stewart DM., Zhu Q., Nelson DL., Notarangelo LD., Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. „Blood”. 13 (104), s. 4010–4019, 2004. DOI: 10.1182/blood-2003-05-1592. PMID: 15284122. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Macedo L.C., Soardi F.C., Ananias N., Belangero V.M., Rigatto S.Z., De-Mello M.P., D’Souza-Li L. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. „Arquivos Brasileiros de Endocrinologia & Metabologia”. 52 (8), s. 1244–1251, 2008. DOI: 10.1590/S0004-27302008000800007. PMID: 19169476. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. „J Med Genet”. 1 (37), s. 1–8, 2000. DOI: 10.1136/jmg.37.1.1. PMID: 10633128. PMCID: PMC1734457. 
  • M.C. França, A. D’Abreu, A. Nucci, I. Lopes-Cendes. Muscle excitability abnormalities in Machado-Joseph disease. „Arch Neurol”. 65 (4), s. 525–529, 2008. DOI: 10.1001/archneur.65.4.525. PMID: 18413477. 
  • T. Suominen, L.L. Bachinski, S. Auvinen, P. Hackman i inni. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. „Eur J Hum Genet”. 19 (7), s. 776–782, 2011. DOI: 10.1038/ejhg.2011.23. PMID: 21364698. 
  • DH Cho, SJ Tapscott. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. „Biochim Biophys Acta”. 1772 (2), s. 195–204, 2007. DOI: 10.1016/j.bbadis.2006.05.013. PMID: 16876389. 
  • Gary R. Lichtenstein, Stephen B. Hanauer, William J. Sandborn. Management of Crohn’s Disease in Adults. „The American Journal of Gastroenterology”. 104, s. 465–483, 2009. DOI: 10.1038/ajg.2008.168. (ang.). 
  • E F Stange, S P L Travis, S Vermeire, C Beglinger i inni. European evidence based consensus on the diagnosis and management of Crohn’s disease: definitions and diagnosis. „GUT. An International Journal of Gastroenterology and Hepatology”. 55(suppl 1), s. i1-i15, 2006. DOI: 10.1136/gut.2005.081950a. (ang.). 
  • Hugot J P et al. Prevalence of CARD15/NOD2 mutations in Caucasian healthy people. „Am J Gastroenterol”. 102, s. 1259–1267, 2007. DOI: 10.1111/j.1572-0241.2007.01149.x. PMID: 17319929. 
  • Hanauer SB. Inflammatory bowel disease. „N Engl J Med”. 334 (13), s. 841–848, 1996. DOI: 10.1056/NEJM199603283341307. PMID: 8596552. 
  • Mueller, M.H.; Kreis, M.E.; Gross M.L.; Becker, H.D.; Zittel, T.T.; Jehle, E.C. Anorectal functional disorders in the absence of anorectal inflammation in patients with Crohn’s disease. „Br J Surg”. 89 (8), s. 1027–1031, 2002. DOI: 10.1046/j.1365-2168.2002.02173.x. PMID: 12153630. 

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  • Philip L. Cohen, Robert A. Eisenberg, Lpr and gl: Single Gene Models of Systemic Autoimmunity and Lymphoproliferative Disease, „Annual Review of Immunology”, 9 (1), 1991, s. 243–269, DOI: 10.1146/annurev.iy.09.040191.001331, PMID: 1910678.
  • F.O. Walker. Huntington’s disease. „Lancet”. 369 (9557), s. 218–228, 2007. DOI: 10.1016/S0140-6736(07)60111-1. PMID: 17240289. 
  • A.G. DiLella i inni, Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene, „Biochemistry”, 4 (25), 1986, s. 743–749, PMID: 3008810.
  • George J. Netto, Rana D. Saad, Peter A. Dysert, Diagnostic molecular pathology: current techniques and clinical applications, part I, „Baylor University Medical Center Proceedings”, 16 (4), 2003, s. 379–383, PMID: 16278751, PMCID: PMC1214554 [dostęp 2017-02-21] [zarchiwizowane z adresu 2017-02-22].
  • O. Olsvik i inni, Use of automated sequencing of polymerase chain reaction-generated amplicons to identify three types of cholera toxin subunit B in Vibrio cholerae O1 strains, „Journal of Clinical Microbiology”, 1, 31, 1993, s. 22–25, PMID: 7678018, PMCID: PMC262614.
  • Erik Pettersson, Joakim Lundeberg, Afshin Ahmadian, Generations of sequencing technologies, „Genomics”, 2, 93, 2009, s. 105–111, DOI: 10.1016/j.ygeno.2008.10.003, PMID: 18992322.
  • Susan M. Wolf i inni, Managing incidental findings and research results in genomic research involving biobanks and archived data sets, „Genetics in Medicine”, 14 (4), 2012, s. 361–384, DOI: 10.1038/gim.2012.23, PMID: 22436882, PMCID: PMC3597341.
  • N.J. Roizen, D. Patterson, Down’s syndrome, „Lancet”, 361 (9365), 2003, s. 1281–1289, DOI: 10.1016/S0140-6736(03)12987-X, PMID: 12699967.
  • R.J. Snijders, N.J. Sebire, K.H. Nicolaides, Maternal age and gestational age-specific risk for chromosomal defects, „Fetal Diagnosis and Therapy”, 10 (6), 1995, s. 356–367, PMID: 8579773.
  • K. Patau i inni, Multiple congenital anomaly caused by an extra autosome, „The Lancet”, 790, 1960, DOI: 10.1016/S0140-6736(60)90676-0, PMID: 14430807.
  • D. Iliopoulos i inni, Patau syndrome with a long survival (146 months): a clinical report and review of literature, „American Journal of Medical Genetics Part A”, 140 (1), 2006, s. 92–93, DOI: 10.1002/ajmg.a.31056, PMID: 16333832.
  • B. Zoll i inni, Trisomy 13 (Patau syndrome) with an 11-year survival, „Clinical Genetics”, 43 (1), 1993, s. 46–50, DOI: 10.1111/j.1399-0004.1993.tb04426.x, PMID: 8462196.
  • A.C. Duarte i inni, Patau syndrome with a long survival. A case report, „Genetics and Molecular Research”, 3 (2), 2004, s. 288–292, PMID: 15266400.
  • A. Nanjiani, A. Hossain, N. Mahgoub, Patau syndrome, „Journal of Neuropsychiatry and Clinical Neurosciences”, 19 (2), 2007, s. 201–202, DOI: 10.1176/jnp.2007.19.2.201, PMID: 17431076.
  • R.J. Gorlin, V.E. Anderson, C.R. Scott, Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another, „The New England Journal of Medicine”, 264, 1961, s. 486–489, DOI: 10.1056/NEJM196103092641004, PMID: 13707262.
  • J. Towfighi i inni, Neuropathology of oral-facial-digital syndromes, „Archives of Pathology & Laboratory Medicine”, 109 (7), 1985, s. 642–646, PMID: 3839363.
  • Maria I. Ferrante i inni, Identification of the gene for oral-facial-digital type I syndrome, „American Journal of Human Genetics”, 68 (3), 2001, s. 569–576, DOI: 10.1086/318802, PMID: 11179005, PMCID: PMC1274470.
  • Shilpa Chetty-John i inni, Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I), „American Journal of Medical Genetics Part A”, 10, 2010, s. 2640–2645, DOI: 10.1002/ajmg.a.33666, PMID: 20818665, PMCID: PMC2963649.
  • D. Donnai, L. Kerzin-Storrar, R. Harris, Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease, „Journal of Medical Genetics”, 2, 24, 1987, s. 84–87, DOI: 10.1136/jmg.24.2.84, PMID: 3560172, PMCID: PMC1049894.
  • M.J. Harrod i inni, Polycystic kidney disease in a patient with the oral-facial-digital syndrome – type I, „Clinical Genetics”, 9 (2), 1976, s. 183–186, DOI: 10.1111/j.1399-0004.1976.tb01565.x, PMID: 1248177.
  • E. Niebuhr, The cri du chat syndrome. Epidemiology, cytogenetics and clinical features, „Human Genetics”, 44 (3), 1978, s. 227–275, PMID: 365706.
  • I. Kjaer, E. Niebuhr, Studies of cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition, „American Journal of Medical Genetics”, 82 (1), 1999, s. 6–14, PMID: 9916835.
  • N.L. Shannon i inni, An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality, „Journal of Medical Genetics”, 38 (10), 2001, s. 674–679, DOI: 10.1136/jmg.38.10.674, PMID: 11584045, PMCID: PMC1734744.
  • Halil Aslan i inni, Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity, „BMC Pregnancy and Childbirth”, 3 (1), 2003, DOI: 10.1186/1471-2393-3-1, PMID: 12546710, PMCID: PMC149368.
  • Robert D. Nicholls i inni, Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome, „Nature”, 342, 1989, s. 281–285, DOI: 10.1038/342281a0, PMID: 2812027.
  • A.C. Lindgren i inni, Eating behavior in Prader-Willi syndrome, normal weight, and obese control groups, „Journal of Pediatry”, 137 (1), 2000, s. 50–55, DOI: 10.1067/mpd.2000.106563, PMID: 10891821.
  • M.G. Butler, Prader-Willi syndrome: current understanding of cause and diagnosis, „American Journal of Medical Genetics”, 35 (3), 1990, s. 319–332, DOI: 10.1002/ajmg.1320350306, PMID: 2309779.
  • R.H. Wharton i inni, Acute idiopathic gastric dilation with gastric necrosis in individuals with Prader-Willi syndrome, „American Journal of Medical Genetics”, 73 (4), 1997, s. 437–441, PMID: 9415471.
  • D.A. Stevenson i inni, Gastric rupture and necrosis in Prader-Willi syndrome, „Journal of Pediatric Gastroenterology & Nutrition”, 45 (2), 2007, s. 272–274, DOI: 10.1097/MPG.0b013e31805b82b5, PMID: 17667731, PMCID: PMC3241991.
  • C.R. Hamilton, R.E. Scully, B. Kliman, Hypogonadotropism in Prader-Willi syndrome: induction of puberty and spermatogenesis by clomiphene citrate, „American Journal of Medicine”, 52 (3), 1972, s. 322–329, PMID: 5011391.
  • A. Crinò i inni, Hypogonadism and pubertal development in Prader-Willi syndrome, „European Journal of Pediatrics”, 162 (5), 2003, s. 327–333, DOI: 10.1007/s00431-002-1132-4, PMID: 12692714.
  • R.W. Hered i inni, Ophthalmologic features of Prader-Willi syndrome, „Journal of Pediatric Ophthalmology and Strabismus”, 25 (3), 1988, s. 145–150, PMID: 3397859.
  • G.A. Scardina, G. Fucà, P. Messina, Oral diseases in a patient affected with Prader-Willi syndrome, „European Journal of Paediatric Dentistry”, 8 (2), 2007, s. 96–99, PMID: 17571934.
  • M. Debbané i inni, Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications, „Schizophrenia Research”, 84 (2–3), 2006, s. 187–193, DOI: 10.1016/j.schres.2006.01.019, PMID: 16545541.
  • Barbara R. Pober, Williams-Beuren Syndrome, „The New England Journal of Medicine”, 362 (3), 2010, s. 239–252, DOI: 10.1056/NEJMra0903074, PMID: 20089974.
  • J.D. Rowley, A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining, „Nature”, 243 (5405), 1973, s. 290–293, PMID: 4126434.
  • K. Łącka, Zespół Turnera – korelacja pomiędzy kariotypem a fenotypem, „Endokrynologia Polska”, 56 (6), 2005, s. 986–983, PMID: 16821224 [zarchiwizowane z adresu 2007-09-28].
  • P. Saenger i inni, Recommendations for the diagnosis and management of Turner syndrome, „Journal of Clinical Endocrinology & Metabolism”, 86 (7), 2001, s. 3061–3069, DOI: 10.1210/jcem.86.7.7683, PMID: 11443168.
  • T.E. Kelly, J.E. Ferguson, W. Golden, Survival of fetuses with 45,X: an instructive case and an hypothesis, „American Journal of Medical Genetics Part A”, 42 (6), 1992, s. 825–826, DOI: 10.1002/ajmg.1320420616, PMID: 1554022.
  • K.R. Held i inni, Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?, „Human Genetics”, 88, 1992, s. 288–294, PMID: 1733830.
  • R. Fernandez, J. Mendez, E. Pasaro. Turner syndrome: a study of chromosomal mosaicism. „Human Genetics”. 98, s. 29–35, 1996. PMID: 8682502. 
  • C.H. Gravholt, Epidemiological, endocrine and metabolic features in Turner syndrome, „European Journal of Endocrinology”, 151, 2004, s. 657–687, DOI: 10.1590/S0004-27302005000100019, PMID: 16544046 [zarchiwizowane z adresu 2007-09-28].
  • J. Visootsak, J.M. Graham, Klinefelter syndrome and other sex chromosomal aneuploidies, „Orphanet Journal of Rare Diseases”, 1 (42), 2006, DOI: 10.1186/1750-1172-1-42, PMID: 17062147, PMCID: PMC1634840.
  • J. Kosowicz, K. Rzymski, Radiological features of the skull in Klinefelter’s syndrome and male hypogonadism, „Clinical Radiology”, 26 (3), 1975, s. 371–378, PMID: 1201634.
  • C.M. Smyth, W.J. Bremner, Klinefelter syndrome, „Archives of Internal Medicine”, 158 (12), 1998, s. 1309–1314, DOI: 10.1001/archinte.158.12.1309, PMID: 9645824.
  • A. Kuliev, Y. Verlinsky, Preimplantation diagnosis: A realistic option for assisted reproduction and genetic practice, „Current Opinion in Obstetrics and Gynecology”, 17 (2), 2005, s. 179–183, DOI: 10.1097/01.gco.0000162189.76349.c5, PMID: 15758612.
  • T.N. Williams, S.K. Obaro, Sickle cell disease and malaria morbidity: a tale with two tails, „Trends in Parasitology”, 27 (7), 2011, s. 315–320, DOI: 10.1016/j.pt.2011.02.004, PMID: 21429801.
  • publikacja w otwartym dostępie – możesz ją przeczytać Sobczak, K.; de Mezer, M.; Michlewski, G.; Krol, J.; Krzyzosiak, W.J. RNA structure of trinucleotide repeats associated with human neurological diseases. „Nucleic Acids Research”. 31 (19), s. 5469–5482, 2003. PMID: 14500809. PMCID: PMC206466. 
  • Wynn, J.; King, T.M.; Gambello, M.J.; Waller, D.K.; Hecht, J.T. Mortality in achondroplasia study: a 42-year follow-up. „Am J Med Genet A”. 143A (21), s. 2502–2511, 2007. DOI: 10.1002/ajmg.a.31919. PMID: 17879967. 
  • G.A. Bellus i inni, Achondroplasia is defined by recurrent G380R mutations of FGFR3, „American Journal of Human Genetics”, 56 (2), 1995, s. 368–373, PMID: 7847369, PMCID: PMC1801129.
  • publikacja w otwartym dostępie – możesz ją przeczytać Dakouane Giudicelli, M.; Serazin, V.; Le Sciellour, C.R.; Albert, M.; Selva, J. Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies. „Fertil Steril”. 89 (6), s. 1651–1656, 2008. DOI: 10.1016/j.fertnstert.2007.04.037. PMID: 17706214. 
  • R.M. Pauli i inni, Apnea and sudden unexpected death in infants with achondroplasia, „The Journal of Pediatrics”, 104 (3), 1984, s. 342–348, PMID: 6707788.
  • J.T. Hecht i inni, Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates, „American Journal of Medical Genetics”, 41 (2), 1991, s. 208–211, DOI: 10.1002/ajmg.1320410215, PMID: 1785636.
  • C. Napolitano, S.G. Priori, Brugada syndrome, „Orphanet Journal of Rare Diseases”, 1 (35), 2006, s. 35, DOI: 10.1186/1750-1172-1-35, PMID: 16972995, PMCID: PMC1592481.
  • Peter O. Kwiterovich, Donald S. Fredrickson, Robert I. Levy, Familial Hypercholesterolemia (One Form of Familial Type II Hyperlipoproteinemia). A Study of Its Biochemical, Genetic, and Clinical Presentation in Childhood, „The Journal of Clinical Investigation”, 53 (5), 1974, DOI: 10.1172/JCI107670, PMID: 4363406, PMCID: PMC302610.
  • Ronald M. Summers i inni, Evaluation of the Aortic Root by MRI, „Circulation”, 98 (6), 1998, s. 509–518, DOI: 10.1161/01.CIR.98.6.509, PMID: 9714107.
  • Kana Yasukawa i inni, Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly, „Journal of Biological Chemistry”, 277, 2002, s. 23670–23674, DOI: 10.1074/jbc.M200974200, PMID: 11973334.
  • J.-D. Fine i inni, The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on diagnosis and classification of EB, „Journal of the American Academy of Dermatology”, 58 (6), 2008, s. 931–950, DOI: 10.1016/j.jaad.2008.02.004, PMID: 18374450.
  • Ellen G. Pfendner, Sara G. Sadowski, Jouni Uitto, Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis, „Journal of Investigative Dermatology”, 125 (2), 2005, s. 239–243, DOI: 10.1111/j.0022-202X.2005.23818.x, PMID: 16098032.
  • Shoshana Hacham-Zadeh i inni, Epidermolysis bullosa herpetiformis Dowling-Meara in a large family, „J. Am. Acad. Derm.”, 18 (4), 1988, s. 702–706, DOI: 10.1016/S0190-9622(88)70093-6, PMID: 3372762.
  • S. Chavanas i inni, Splicing Modulation of Integrin β4 Pre-mRNA Carrying a Branch Point Mutation Underlies Epidermolysis Bullosa with Pyloric Atresia Undergoing Spontaneous Amelioration With Ageing, „Human Molecular Genetics”, 8 (11), 1999, s. 2097–2105, DOI: 10.1093/hmg/8.11.2097, PMID: 10484780.
  • L. Ruzzi i inni, A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia, „The Journal of Clinical Investigation”, 99 (12), 1997, DOI: 10.1172/JCI119474, PMID: 9185503, PMCID: PMC508131.
  • C.A. Oakley i inni, The Cockayne-Touraine type of dominant dystrophic epidermolysis bullosa--ultrastructural similarities to the Pasini variant, „Acta Dermato-Venereologica”, 64 (3), 1984, s. 253–256, PMID: 6204490.
  • J. Diedrichson, D. Talanow, A. Safi, Epidermolysis bullosa dystrophica (Hallopeau-Siemens) an der Hand – Operative Strategie und Ergebnisse, „Handchirurgie, Mikrochirurgie, Plastische Chirurgie”, 37 (5), 2005, s. 316–322, DOI: 10.1055/s-2005-872849, PMID: 16287016.
  • Marie Luise Bisgaard i inni, Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate, „Human Mutation”, 3 (2), 1994, s. 121–125, DOI: 10.1002/humu.1380030206, PMID: 8199592.
  • P. Rozen i inni, Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features, „Familial Cancer”, 1 (2), 2001, s. 75–82, PMID: 14574001.
  • publikacja w otwartym dostępie – możesz ją przeczytać Leoz, M.L.; Carballal, S.; Moreira, L.; Ocaña, T.; Balaguer, F. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. „Appl Clin Genet”. 8, s. 95–107, 2015. DOI: 10.2147/TACG.S51484. PMID: 25931827. PMCID: PMC4404874. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Campos, F.G.; Sulbaran, M.; Safatle-Ribeiro, A.V.; Martinez, C.A. Duodenal adenoma surveillance in patients with familial adenomatous polyposis. „World J Gastrointest Endosc”. 7 (10), s. 950–959, 2015. DOI: 10.4253/WJGE.v7.i10.950. PMID: 26265988. PMCID: PMC4530328. 
  • Kory W. Jasperson, Swati G. Patel, Dennis J. Ahnen, APC-Associated Polyposis Conditions, [w:] GeneReviews, Roberta A. Pagon i inni, Seattle: University of Washington, 1993–2017, ISSN 2372-0697.
  • Steinhagen, E.; Guillem, J.G.; Chang, G.; Salo-Mullen, E.E.; Shia, J. The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized. „Clin Colorectal Cancer”. 11 (4), s. 304–308, 2012. DOI: 10.1016/j.clcc.2012.01.006. PMID: 22425061. 
  • Kadmon, M.; Tandara, A.; Herfarth, C. Duodenal adenomatosis in familial adenomatous polyposis coli. A review of the literature and results from the Heidelberg Polyposis Register. „Int J Colorectal Dis”. 16 (2), s. 63–75, 2001. PMID: 11355321. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Dasari, B.V.; Gardiner, K.R. Management of adenocarcinoma of the small intestine. „Gastrointest Cancer Res”. 3 (3), s. 121–122, 2009. PMID: 19626156. PMCID: PMC2713137. 
  • Aretz, S.; Koch, A.; Uhlhaas, S.; Friedl, W.; Propping, P. Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?. „Pediatr Blood Cancer”. 47 (6), s. 811–818, 2006. DOI: 10.1002/pbc.20698. PMID: 16317745. 
  • Hughes, L.J.; Michels, V.V. Risk of hepatoblastoma in familial adenomatous polyposis. „Am J Med Genet”. 43 (6), s. 1023–1025, 1992. DOI: 10.1002/ajmg.1320430621. PMID: 1329510. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Groen, E.J.; Roos, A.; Muntinghe, F.L.; Enting, R.H.; de Vries, J. Extra-intestinal manifestations of familial adenomatous polyposis. „Ann Surg Oncol”. 15 (9), s. 2439–2450, 2008. DOI: 10.1245/s10434-008-9981-3. PMID: 18612695. PMCID: PMC2518080. 
  • Sanders, R.P.; Furman, W.L. Familial adenomatous polyposis in two brothers with hepatoblastoma: implications for diagnosis and screening. „Pediatr Blood Cancer”. 47 (6), s. 851–854, 2006. DOI: 10.1002/pbc.20556. PMID: 16106429. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Giardiello, F.M.; Offerhaus, G.J.; Lee, D.H.; Krush, A.J.; Tersmette, A.C. Increased risk of thyroid and pancreatic carcinoma in familial adenomatous polyposis. „Gut”. 34 (10), s. 1394–1396, 1993. DOI: 10.1136/gut.34.10.1394. PMID: 8244108. PMCID: PMC1374548. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Maire, F.; Hammel, P.; Terris, B.; Olschwang, S.; O’Toole, D. Intraductal papillary and mucinous pancreatic tumour: a new extracolonic tumour in familial adenomatous polyposis. „Gut”. 51 (3), s. 446–449, 2002. DOI: 10.1136/gut.51.3.446. PMID: 12171972. PMCID: PMC1773367. 
  • Offerhaus, G.J.; Entius, M.M.; Giardiello, F.M. Upper gastrointestinal polyps in familial adenomatous polyposis. „Hepatogastroenterology”. 46 (26). s. 667–669. PMID: 10370594. 
  • Garrean, S.; Hering, J.; Saied, A.; Jani, J.; Espat, N.J. Gastric adenocarcinoma arising from fundic gland polyps in a patient with familial adenomatous polyposis syndrome. „Am Surg”. 74 (1), s. 79–83, 2008. PMID: 18274437. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Half, E.; Bercovich, D.; Rozen, P. Familial adenomatous polyposis. „Orphanet J Rare Dis”. 4 (1), s. 22, 2009. DOI: 10.1186/1750-1172-4-22. PMID: 19822006. PMCID: PMC2772987. 
  • Daniel S. Ellis, Walter G.J. Putschar, Case 16-1968, „The New England Journal of Medicine”, 278 (16), 1968, s. 899–904, DOI: 10.1056/NEJM196804182781607, PMID: 5641158.
  • E. Coto i inni, Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1), „Journal of Medical Genetics”, 29 (4), 1992, s. 243–246, DOI: 10.1136/jmg.29.4.243, PMID: 1583643, PMCID: PMC1015922.
  • M.L. Watson i inni, Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16, „Journal of Medical Genetics”, 24 (8), 1987, s. 457–461, DOI: 10.1136/jmg.24.8.457, PMID: 2821260, PMCID: PMC1050201.
  • S.E. Pound i inni, Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene, „Journal of Medical Genetics”, 29 (4), 1992, s. 247–248, DOI: 10.1136/jmg.29.4.247, PMID: 1583644, PMCID: PMC1015923.
  • G. Wu, S. Somlo, Molecular genetics and mechanism of autosomal dominant polycystic kidney disease, „Molecular Genetics and Metabolism”, 69 (1), 2000, s. 1–15, DOI: 10.1006/mgme.1999.2943, PMID: 10655152.
  • publikacja w otwartym dostępie – możesz ją przeczytać Sriboonnark, L.; Arora, H.; Falto-Aizpurua, L.; Choudhary, S.; Connelly, E.A. Costello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment. „Case Rep Pediatr”. 2015, s. 934865, 2015. DOI: 10.1155/2015/934865. PMID: 25815234. 
  • publikacja w otwartym dostępie – możesz ją przeczytać K.E. Resnick, H. Hampel, R. Fishel, D.E. Cohn. Current and emerging trends in Lynch syndrome identification in women with endometrial cancer. „Gynecol Oncol”. 114 (1), s. 128–134, 2009. DOI: 10.1016/j.ygyno.2009.03.003. PMID: 19375789. PMCID: PMC2841434. 
  • A. de la Chapelle. The incidence of Lynch syndrome. „Fam Cancer”. 4 (3), s. 233–237, 2005. DOI: 10.1007/s10689-004-5811-3. PMID: 16136383. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Baiocchi, G.L.; Portolani, N.; Vermi, W.; Baronchelli, C.; Gheza, F. Lynch syndrome from a surgeon perspective: retrospective study of clinical impact of mismatch repair protein expression analysis in colorectal cancer patients less than 50 years old. „BMC Surg”. 14, s. 9, 2014. DOI: 10.1186/1471-2482-14-9. PMID: 24533633. PMCID: PMC3996083. 
  • Chung, D.C.; Rustgi, A.K. The hereditary nonpolyposis colorectal cancer syndrome: genetics and clinical implications. „Ann Intern Med”. 138 (7), s. 560–570, 2003. DOI: 10.7326/0003-4819-138-7-200304010-00012. PMID: 12667026. 
  • H.T. Lynch i inni, Hereditary nonpolyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, Part I, „Cancer Genetics and Cytogenetics”, 53 (2), 1991, s. 143–160, PMID: 1648437.
  • Henry T. Lynch, Albert de la Chapelle, Hereditary colorectal cancer, „The New England Journal of Medicine”, 348 (10), 2003, s. 919–932, DOI: 10.1056/NEJMra012242, PMID: 12621137.
  • Henry T. Lynch, Jane F. Lynch, Thomas A. Attard, Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model, „Canadian Medical Association Journal”, 181 (5), 2009, s. 273–280, DOI: 10.1503/cmaj.071574, PMID: 19654196, PMCID: PMC2734205.
  • Henry T. Lynch i inni, Adenocarcinoma of the small bowel in lynch syndrome II, „Cancer”, 64 (10), 1989, s. 2178–2183, DOI: 10.1002/1097-0142(19891115)64:10<2178::AID-CNCR2820641033>3.0.CO;2-0, PMID: 2804907.
  • H.F. Vasen i inni, Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis, „Gastroenterology”, 110 (4), 1996, s. 1020–1027, DOI: 10.1053/gast.1996.v110.pm8612988, PMID: 8612988.
  • Markku Aarnio i inni, Cancer risk in mutation carriers of DNA-mismatch-repair genes, „International Journal of Cancer”, 81 (2), 1999, s. 214–218, DOI: 10.1002/(SICI)1097-0215(19990412)81:2<214::AID-IJC8>3.0.CO;2-L, PMID: 10188721.
  • Y. Parc i inni, Cancer risk in 348 French MSH2 or MLH1 gene carriers, „Journal of Medical Genetics”, 40 (3), 2003, s. 208–213, DOI: 10.1136/jmg.40.3.208, PMID: 12624141, PMCID: PMC1735402.
  • Brendan Lee i inni, Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes, „Nature”, 352, 1991, s. 330–334, DOI: 10.1038/352330a0, PMID: 1852206.
  • Hsin-Hui Chiu i inni, Epidemiological profile of Marfan syndrome in a general population: a national database study, „Mayo Clinic Proceedings”, 89 (1), 2014, s. 34–42, DOI: 10.1016/j.mayocp.2013.08.022, PMID: 24388020.
  • Koichi Akutsu i inni, Characteristics in Phenotypic Manifestations of Genetically Proved Marfan Syndrome in a Japanese Population, „The American Journal of Cardiology”, 103 (8), 2009, s. 1146–1148, DOI: 10.1016/j.amjcard.2008.12.037, PMID: 19361604.
  • M.F. Koller i inni, Evidence of a genetic basis of Morgagni-Stewart-Morel syndrome. A case report of identical twins, „Neuro-degenerative diseases”, 2 (2), 2005, s. 56–60, DOI: 10.1159/000089284, PMID: 16909048.
  • M. Pawlikowski, J. Komorowski, Hyperostosis frontalis, galactorrhoea/hyperprolactinaemia, and Morgagni-Stewart-Morel syndrome, „The Lancet”, 321 (8322), 1983, s. 474, DOI: 10.1016/S0140-6736(83)91470-8, PMID: 6131191.
  • R.M. Stewart, Localized cranial hyperostosis in insane, „Journal of Neurology and Psychopathology”, 8 (32), 1928, s. 321–331, PMID: 21611258, PMCID: PMC1068563.
  • P. Rosatti, [Family affected by hyperostosis frontalis interna (Morgagni-Morel syndrome) through 4 successive generations], „Journal De Genetique Humaine”, 20 (3), 1972, s. 207–252, PMID: 4659165 (fr.).
  • C.G. Gegick i inni, Hyperostosis frontalis interna and hyperphosphatasemia, „Annals of Internal Medicine”, 79 (1), 1973, s. 71–75, DOI: 10.7326/0003-4819-79-1-71, PMID: 4721177.
  • publikacja w otwartym dostępie – możesz ją przeczytać S. Abdollahi Fakhim, N. Shahidi, M. Mousaviagdas. A case report: nager acrofacial dysostosis. „Iran J Otorhinolaryngol”. 24 (66), s. 45–50, 2012. PMID: 24303385. PMCID: PMC3846201. 
  • Victor A. McKusick, Mendelian Inheritance in Man and Its Online Version, OMIM, „American Journal of Human Genetics”, 80 (4), 2017, s. 588–604, DOI: 10.1086/514346, PMID: 17357067, PMCID: PMC1852721.
  • Diego Prieto Roces i inni, Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study, „Human Molecular Genetics”, 13 (18), 2004, s. 1979–1988, DOI: 10.1093/hmg/ddh220, PMID: 15269179.
  • Yasuo Gotoda i inni, Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis, „American Journal of Human Genetics”, 63 (4), 1998, s. 1015–1024, DOI: 10.1086/302048, PMID: 9758606.
  • Livia Poenaru i inni, Antenatal diagnosis in three pregnancies at risk for mannosidosis, „Clinical Genetics”, 16 (6), 1980, s. 428–432, DOI: 10.1111/j.1399-0004.1979.tb01351.x, PMID: 393435.
  • Dag Malm, Øivind Nilssen, Alpha-mannosidosis, „Orphanet Journal of Rare Diseases”, 3 (1), 2008, s. 21, DOI: 10.1186/1750-1172-3-21, PMID: 18651971.
  • Joost P.H. Drenth, Stephen G. Waxman, Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders, „The Journal of Clinical Investigation”, 117 (12), 2007, s. 3603–3609, PMID: 18060017, PMCID: PMC2096434.
  • Catherine Booth, Baba Inusa, Stephen K. Obaro, Infection in sickle cell disease: a review, „International Journal of Infectious Diseases”, 14 (1), 2010, s. e2–e12, DOI: 10.1016/j.ijid.2009.03.010, PMID: 19497774.
  • David C. Rees, Thomas N. Williams, Mark T. Gladwin, Sickle-cell disease, „The Lancet”, 376 (9757), 2010, s. 2018–2031, DOI: 10.1016/S0140-6736(10)61029-X, PMID: 21131035.
  • J.B. Scriver, T.R. Waugh, Studies on a case of sickle-cell anaemia, „Canadian Medical Association Journal”, 23 (3), 1930, s. 375–380, PMID: 20317973, PMCID: PMC382053.
  • N.P. Davies i inni, Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation, „Neurology”, 65 (7), 2005, s. 1083–1089, DOI: 10.1212/01.wnl.0000178888.03767.74, PMID: 16217063.
  • R. Kaul i inni, Canavan disease; mutations among Jewish and non-Jewish patients, „American Journal of Human Genetics”, 55 (1), 1994, s. 34–41, PMID: 8023850, PMCID: PMC1918221.
  • R. Parvari i inni, A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients, „European Journal of Human Genetics”, 5 (5), 1997, s. 266–270, PMID: 9412782.
  • Gisela Nogales-Gadea i inni, Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease, „Brain: A Journal of Neurology”, Pt 7, 2012, s. 2048–2057, DOI: 10.1093/brain/aws141, PMID: 22730558.
  • A.L. Andreu i inni, McArdle disease: molecular genetic update, „Acta Myologica”, 26 (1), 2007, s. 53–57, PMID: 17915571, PMCID: PMC2949323.
  • Andrea Martinuzzi i inni, McArdle’s disease. The unsolved mystery of the reappearing enzyme, „The American Journal of Pathology”, 154 (6), 1999, s. 1893–1897, DOI: 10.1016/S0002-9440(10)65447-8, PMID: 10362816, PMCID: PMC1866615.
  • Renata Siciliani Scalco i inni, From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease, „Arquivos De Neuro-Psiquiatria”, 72 (7), 2014, s. 538–541, DOI: 10.1590/0004-282X20140062, PMID: 25054987.
  • R. Quinlivan i inni, McArdle disease: a clinical review, „Journal of Neurology, Neurosurgery, and Psychiatry”, 81 (11), 2010, s. 1182–1188, DOI: 10.1136/jnnp.2009.195040, PMID: 20861058.
  • Suhrad G. Banugaria i inni, The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease, „Genetics in Medicine”, 13 (8), 2011, s. 729–736, DOI: 10.1097/GIM.0b013e3182174703, PMID: 21637107, PMCID: PMC3954622.
  • Daniel Forsha i inni, Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy, „Genetics in Medicine”, 13 (7), 2011, s. 625–631, DOI: 10.1097/GIM.0b013e3182142966, PMID: 21543987, PMCID: PMC3138812.
  • T. Matsuishi i inni, Childhood acid maltase deficiency. A clinical, biochemical, and morphologic study of three patients, „Archives of Neurology”, 41 (1), 1984, s. 47–52, PMID: 6360103.
  • A.E. Slonim i inni, Identification of two subtypes of infantile acid maltase deficiency, „The Journal of Pediatrics”, 137 (2), 2000, s. 283–285, DOI: 10.1067/mpd.2000.107112, PMID: 10931430.
  • Suhrad G. Banugaria i inni, The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease, „Genetics in Medicine”, 13 (8), 2011, s. 729–736, DOI: 10.1097/GIM.0b013e3182174703, PMID: 21637107, PMCID: PMC3954622.
  • Takahiro Hamada. W.H. Irwin McLean i inni, Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1), „Human Molecular Genetics”, 11 (7), 2002, s. 833–840, DOI: 10.1093/hmg/11.7.833, PMID: 11929856.
  • Michaela Siebert, Hans J. Markowitsch, Peter Bartel, Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease, „Brain”, 126 (12), 2003, s. 2627–2637, DOI: 10.1093/brain/awg271, PMID: 12937075.
  • S. Di Giandomenico i inni, Lipoid proteinosis: case report and review of the literature, „Acta Otorhinolaryngologica Italica”, 26 (3), 2006, s. 162–167, PMID: 17063986, PMCID: PMC2639960.
  • Peter C. Bull i inni, The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene, „Nature Genetics”, 5 (4), 1993, s. 327–337, DOI: 10.1038/ng1293-327, PMID: 8298639.
  • publikacja w otwartym dostępie – możesz ją przeczytać Marlene Attard, Geneviève Jean, Lionel Forestier, Stèphanie Cherqui, William van’t Hoff. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. „Human Molecular Genetics”. 13, s. 2507–2514, 1999. DOI: 10.1093/hmg/8.13.2507. PMID: 10556299. 
  • H. Goldman i inni, Adolescent Cystinosis: Comparisons with Infantile and Adult Forms, „Pediatrics”, 47 (6), 1971, s. 979–988, PMID: 5141767 (ang.).
  • Joachim Pietz i inni, Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria, „The Journal of Clinical Investigation”, 103 (8), 1999, s. 1169–1178, DOI: 10.1172/JCI5017, PMID: 10207169, PMCID: PMC408272.
  • J.N. Feder i inni, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, „Nature Genetics”, 13 (4), 1996, s. 399–408, DOI: 10.1038/ng0896-399, PMID: 8696333.
  • Paul C. Adams, James C. Barton, Haemochromatosis, „The Lancet”, 370 (9602), 2007, s. 1855–1860, DOI: 10.1016/S0140-6736(07)61782-6, PMID: 18061062.
  • W.A. Muir i inni, Evidence for heterogeneity in hereditary hemochromatosis. Evaluation of 174 persons in nine families, „The American Journal of Medicine”, 76 (5), 1984, s. 806–814, PMID: 6720728.
  • Z.J. Bulaj i inni, Clinical and biochemical abnormalities in people heterozygous for hemochromatosis, „The New England Journal of Medicine”, 335 (24), 1996, s. 1799–1805, DOI: 10.1056/NEJM199612123352403, PMID: 8943161.
  • S. Harvey Mudd i inni, Homocystinuria: An enzymatic defect, „Science”, 143 (3613), 1964, s. 1443–1445, DOI: 10.1126/science.143.3613.1443, PMID: 14107447.
  • Kraus JP, Janosik M, Kozich V, Mandell R, Shih V, Sperandeo MP, Sebastio G, de Franchis R, Andria G, Kluijtmans LA, Blom H, Boers GH, Gordon RB, Kamoun P, Tsai MY, Kruger WD, Koch HG, Ohura T, Gaustadnes M. Cystathionine beta-synthase mutations in homocystinuria. „Hum Mutat”. 13, s. 362–375, 1999. DOI: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K. PMID: 10338090. 
  • Ralph Carmel i inni, Congenital methylmalonic aciduria-homocystinuria with megaloblastic anemia: observations on response to hydroxycobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test, „Blood”, 55 (4), 1980, s. 570–579, PMID: 7357085.
  • Brian Fowler i inni, Homocystinuria: evidence for three distinct classes of cystathionine β-synthase mutants in cultured fibroblasts, „The Journal of Clinical Investigation”, 61 (3), 1978, DOI: 10.1172/JCI108976, PMID: 641146, PMCID: PMC372577.
  • O Reish i inni, Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency, „American Journal of Human Genetics”, 57 (1), 1995, s. 127–132, PMID: 7611281, PMCID: PMC1801223.
  • publikacja w otwartym dostępie – możesz ją przeczytać Mudd SH, Finkelstein JD, Refsum H, Ueland PM, Malinow MR, Lentz SR, Jacobsen DW, Brattstrom L, Wilcken B, Wilcken DE, Blom HJ, Stabler SP, Allen RH, Selhub J, Rosenberg IH. Homocysteine and its disulfide derivatives: a suggested consensus terminology. „Arterioscler Thromb Vasc Biol”. 20 (7), s. 1704–1706, 2000. DOI: 10.1161/01.ATV.20.7.1704. PMID: 10894806. 
  • Geoff H. Werstuck i inni, Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways, „The Journal of Clinical Investigation”, 107 (10), 2001, DOI: 10.1172/JCI11596, PMID: 11375416, PMCID: PMC209295.
  • B. William Uhlendorf, S. Harvey Mudd, Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria, „Science”, 160 (3831), 1968, s. 1007–1009, DOI: 10.1126/science.160.3831.1007, PMID: 5647845.
  • publikacja w otwartym dostępie – możesz ją przeczytać G. Di Minno, G. Davì, M. Margaglione, F. Cirillo, E. Grandone. Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism. „The Journal of Clinical Investigation”. 92 (3), 1993. DOI: 10.1172/JCI116715. PMID: 8376592. PMCID: PMC288283. 
  • Lubec B, Fang-Kircher S, Lubec T, Blom HJ, Boers GH. Evidence for McKusick’s hypothesis of deficient collagen cross-linking in patients with homocystinuria. „Biochim Biophys Acta”. 1315 (3), s. 159–162, 1996. PMID: 8611653. 
  • Ailish Nugent, David R Hadden, Nina AJ Carson, Long-term survival of homocystinuria: the first case, „Lancet”, 352 (9128), 1998, s. 624–625, DOI: 10.1016/S0140-6736(05)79579-9, PMID: 9746031.
  • Sufin Yap i inni, Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study, „Arteriosclerosis, Thrombosis, and Vascular Biology”, 21 (12), 2001, s. 2080–2085, DOI: 10.1161/hq1201.100225, PMID: 11742888.
  • P.J. Kelly i inni, Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency, „Neurology”, 60 (2), 2003, s. 275–279, PMID: 12552044.
  • J.D. Schulman i inni, Pulmonary embolism in a homocystinuric patient during treatment with dipyridamole and acetylsalicylic acid, „The New England Journal of Medicine”, 299 (12), 1978, s. 661, DOI: 10.1056/NEJM197809212991212, PMID: 683242.
  • D. Kerrin i inni, Homocystinuria presenting with sagittal sinus thrombosis in infancy, „Journal of Child Neurology”, 11 (1), 1996, s. 70–71, DOI: 10.1177/088307389601100118, PMID: 8745393.
  • publikacja w otwartym dostępie – możesz ją przeczytać Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GHJ, Bromberg IL, Cerone R, Fowler B, Grobe H, Schmidt H, Schweitzer L. The natural history of homocystinuria due to cystathionine ß-synthase deficiency. „Am J Hum Genet”. 37 (1), s. 1–31, 1985. PMID: 3872065. PMCID: PMC1684548. 
  • Abbott, M.H.; Folstein, S.E.; Abbey, H.; Pyeritz, R.E. Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. „American Journal of Medical Genetics”. 26 (4), s. 959–969, 1987. DOI: 10.1002/ajmg.1320260427. PMID: 3591841. 
  • T. Kojima i inni, Biochemical studies on the purine metabolism of four cases with hereditary xanthinuria, „Clinica Chimica Acta”, 137 (2), 1984, s. 189–198, PMID: 6423323.
  • K Ichida i inni, Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria, „Journal of Clinical Investigation”, 99 (10), 1997, s. 2391–2397, DOI: 10.1172/JCI119421, PMID: 9153281, PMCID: PMC508078.
  • C.E. Dent, G.R. Philpot, Xanthinuria, an inborn error (or deviation) of metabolism, „The Lancet”, 266 (6804), 1954, s. 182–185, DOI: 10.1016/S0140-6736(54)91257-X, PMID: 13118765.
  • F.Y. Choy, Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family, „Journal of Medical Genetics”, 25 (5), 1988, s. 322–325, PMID: 3385740, PMCID: PMC1050458.
  • J. Goldblatt, Type I Gaucher disease, „Journal of Medical Genetics”, 25 (6), 1988, s. 415–418, PMID: 3294411, PMCID: PMC1050511.
  • Marina Jmoudiak, Anthony H. Futerman, Gaucher disease: pathological mechanisms and modern management, „British Journal of Haematology”, 129 (2), 2005, s. 178–188, DOI: 10.1111/j.1365-2141.2004.05351.x, PMID: 15813845.
  • David A. Wenger, Krabbe Disease, [w:] GeneReviews, Roberta A. Pagon (red.) i inni, Seattle: University of Washington, 1993–2017, ISSN 2372-0697.
  • J.T. Clarke, Narrative review: Fabry disease, „Annals of Internal Medicine”, 146 (6), 2007, s. 425–433, DOI: 10.7326/0003-4819-146-6-200703200-00007, PMID: 17371887.
  • publikacja w otwartym dostępie – możesz ją przeczytać Karen, JK.; Hale, EK.; Ma, L. Angiokeratoma corporis diffusum (Fabry disease). „Dermatology Online Journal”. 11 (4), s. 8, 2005. PMID: 16403380. 
  • Dörk, T.; Macek, M.; Mekus, F.; Tümmler, B.; Tzountzouris, J. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. „Hum Genet”. 106 (3), s. 259–268, 2000. DOI: 10.1007/s004390000246. PMID: 10798353. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Kerem, E.; Corey, M.; Kerem, B.S.; Rommens, J.; Markiewicz, D. The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508). „N Engl J Med”. 323 (22), s. 1517–1522, 1990. DOI: 10.1056/NEJM199011293232203. PMID: 2233932. 
  • Brian D. Riedel, Gastrointestinal manifestations of cystic fibrosis, „Pediatric Annals”, 26 (4), 1997, s. 235–241, PMID: 9114442.
  • Gabriel, S.E.; Brigman, K.N.; Koller, B.H.; Boucher, R.C.; Stutts, M.J. Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. „Science”. 266 (5182), s. 107–109, 1994. DOI: 10.1126/science.7524148. PMID: 7524148. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Collazo, T.; Bofill, A.M.; Clark. Y.; Hernández, Y.; Gómez, M.; Rodríguez, F.; Ramos, M.D.; Giménez, J.; Casals, T.; Rojo, M. Common mutations in cuban cystic fibrosis patients. „Journal of Cystic Fibrosis”. 8 (1), s. 47–49, 2009. DOI: 10.1016/j.jcf.2008.09.004. PMID: 18938114. 
  • Marieke Levitus i inni, Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes, „Blood”, 103 (7), 2004, s. 2498–2503, DOI: 10.1182/blood-2003-08-2915, PMID: 14630800.
  • John Bland Sutton, A Case of General Seborrhœa or “Harlequin” Fœtus, „Medico-Chirurgical Transactions”, 69, 1886, s. 291–296, PMID: 20896676, PMCID: PMC2121560.
  • P. David Kelsell i inni, Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis, „American Journal of Human Genetics”, 76 (5), 2005, s. 794–803, DOI: 10.1086/429844, PMID: 15756637, PMCID: PMC1199369.
  • Sherri J. Bale, Gabriele Richard, Autosomal Recessive Congenital Ichthyosis, [w:] GeneReviews, Roberta A. Pagon (red.) i inni, Seattle: University of Washington, 1993–2017, ISSN 2372-0697.
  • F. Marlhens i inni, Mutations in RPE65 cause Leber’s congenital amaurosis, „Nature Genetics”, 17 (2), 1997, s. 139–141, DOI: 10.1038/ng1097-139, PMID: 9326927.
  • Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F et al. Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trial.. „Lancet”. 374 (9701), s. 1597–1605, 2009. DOI: 10.1016/S0140-6736(09)61836-5. PMID: 19854499. 
  • Tom Hearn i inni, Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome, „Nature Genetics”, 31, 2002, s. 79–83, DOI: 10.1038/ng874, PMID: 11941370.
  • CH Alstrom i inni, Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree, „Acta Psychiatrica et Neurologica Scandinavica”, 34 (Suppl. 129), 1959, s. 1–35, PMID: 13649370.
  • D. Bloom, Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity, „AMA American Journal of Diseases of Children”, 88 (6), 1954, s. 754–758, PMID: 13206391.
  • Joel E. Straughen i inni, A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom’s syndrome gene, „Human Mutation”, 11 (2), 1998, s. 175–178, DOI: 10.1002/(SICI)1098-1004(1998)11:2<175::AID-HUMU11>3.0.CO;2-W, PMID: 9482582.
  • M. Amor-Guéret, Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis, „Cancer Letters”, 236 (1), 2006, s. 1–12, DOI: 10.1016/j.canlet.2005.04.023, PMID: 15950375.
  • O. Higashi, Congenital gigantism of peroxidase granules. The first case ever reported of qualitative abnormality of proxidase, „Tohoku Journal of Experimental Medicine”, 59 (3), 1954, s. 315–332, DOI: 10.1620/tjem.59.315, PMID: 13169161.
  • publikacja w otwartym dostępie – możesz ją przeczytać Triggs-Raine, B.; Salo, T.J.; Zhang, H.; Wicklow, B.A.; Natowicz, M.R. Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. „Proc Natl Acad Sci U S A”. 96 (11), s. 6296–6300, 1999. DOI: 10.1073/pnas.96.11.6296. PMID: 10339581. 
  • F.B. Axelrod, G. Gold-von Simson, Hereditary sensory and autonomic neuropathies: types II, III, and IV, „Orphanet Journal of Rare Diseases”, 2, 2007, s. 39, DOI: 10.1186/1750-1172-2-39, PMID: 17915006, PMCID: PMC2098750.
  • S.A. Slaugenhaupt i inni, Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia, „American Journal of Human Genetics”, 68 (3), 2001, s. 598–605, DOI: 10.1086/318810, PMID: 11179008, PMCID: PMC1274473.
  • S.L. Anderson i inni, Familial dysautonomia is caused by mutations of the IKAP gene, „American Journal of Human Genetics”, 68 (3), 2001, s. 753–758, PMID: 11179021.
  • P.W. Brunt, McKusick V.A., Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature, „Medicine (Baltimore)”, 49 (5), 1971, s. 343–374, PMID: 4322121.
  • C.M. Riley, R.L. Day, Central autonomic dysfunction with defective lacrimation; report of five cases, „Pediatrics”, 3 (4), 1949, s. 468–478, PMID: 18118947.
  • Isabelle Coupry i inni, Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR, „Human Mutation”, 23 (3), 2004, s. 278–284, DOI: 10.1002/humu.20001, PMID: 14974086.
  • Angela Bentivegna i inni, Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, „BMC Medical Genetics”, 7 (77), 2006, DOI: 10.1186/1471-2350-7-77, PMID: 17052327, PMCID: PMC1626071.
  • J.H. Rubinstein, H. Taybi, Broad małys and toes and facial abnormalities. A possible mental retardation syndrome, „American Journal of Diseases of Children”, 105, 1963, s. 588–608, PMID: 13983033.
  • Nicola C. Ho i inni, Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report, „BMC Neurology”, 3 (3), 2003, DOI: 10.1186/1471-2377-3-3, PMID: 12839625, PMCID: PMC166146.
  • Nathalie Dagoneau i inni, Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome, „American Journal of Human Genetics”, 74 (2), 2004, s. 298–305, DOI: 10.1086/381715, PMID: 14740318, PMCID: PMC1181927.
  • Annick Raas-Rothschild i inni, Cardiovascular abnormalities associated with the Stuve-Wiedemann syndrome, „American Journal of Medical Genetics Part A”, 121A (2), 2003, s. 156–158, DOI: 10.1002/ajmg.a.20066, PMID: 12910496.
  • M. Di Rocco i inni, Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia, „American Journal of Medical Genetics Part A”, 118A (4), 2003, s. 362–368, DOI: 10.1002/ajmg.a.10242, PMID: 12687669.
  • L.I. Al-Gazali i inni, Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features, „Clin Dysmorphol”, 12 (1), 2003, s. 1–8, DOI: 10.1097/01.mcd.0000049260.13501.ec, PMID: 12514358.
  • Isabel Mendes Gaspar i inni, Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report, „American Journal of Medical Genetics Part A”, 146A (13), 2008, s. 1748–1753, DOI: 10.1002/ajmg.a.32325, PMID: 18546280.
  • John Gardiner i inni, Defects in tongue papillae and taste sensation indicate a problem with neurotrophic support in various neurological diseases, „Neuroscientist”, 14 (3), 2008, s. 240–250, DOI: 10.1177/1073858407312382, PMID: 18270312.
  • S.F. Pilley, H.S. Thompson. Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) in childhood. „Br J Ophthalmol”. 60 (4), s. 294–298, 1976. PMID: 1276119. 
  • T.G. Barrett, S.E. Bundey, A.F. Macleod. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. „Lancet”. 346 (8988), s. 1458–1463, 1995. PMID: 7490992. 
  • A. Rötig, V. Cormier, P. Chatelain, R. Francois i inni. Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). „J Clin Invest”. 91 (3), s. 1095–1098, 1993. DOI: 10.1172/JCI116267. PMID: 8383698. 
  • H. Inoue, Y. Tanizawa, J. Wasson, P. Behn i inni. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). „Nat Genet”. 20 (2), s. 143–148, 1998. DOI: 10.1038/2441. PMID: 9771706. 
  • H. El-Shanti, A.C. Lidral, N. Jarrah, L. Druhan i inni. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. „Am J Hum Genet”. 66 (4), s. 1229–1236, 2000. DOI: 10.1086/302858. PMID: 10739754. 
  • Nanna D. Rendtorff i inni, Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment, „American Journal of Medical Genetics Part A”, 155 (6), 2011, s. 1298–1313, DOI: 10.1002/ajmg.a.33970, PMID: 21538838, PMCID: PMC3100366.
  • J.A. Minton, L.A. Rainbow, C. Ricketts, T.G. Barrett. Wolfram syndrome. „Rev Endocr Metab Disord”. 4 (1), s. 53–59, 2003. PMID: 12618560. 
  • C. Borgna-Pignatti, P. Marradi, L. Pinelli, N. Monetti i inni. Thiamine-responsive anemia in DIDMOAD syndrome. „J Pediatr”. 114 (3), s. 405–410, 1989. PMID: 2537896. 
  • S. Tekgül, O. Oge, E. Simşek, N. Yordam i inni. Urological manifestations of the Wolfram syndrome: observations in 14 patients. „J Urol”. 161 (2), s. 616–617, 1999. PMID: 9915470. 
  • A. Thanos, A. Farmakis, Z. Sami, E. Davillas i inni. Three cases of didmoad or Wolfram’s syndrome: urological aspects. „J Urol”. 148 (1), s. 150–152, 1992. PMID: 1613861. 
  • R.G. Swift, D.B. Sadler, M. Swift. Psychiatric findings in Wolfram syndrome homozygotes. „Lancet”. 336 (8716), s. 667–669, 1990. PMID: 1975860. 
  • R.G. Swift, D.O. Perkins, C.L. Chase, D.B. Sadler i inni. Psychiatric disorders in 36 families with Wolfram syndrome. „Am J Psychiatry”. 148 (6), s. 775–779, 1991. PMID: 2035720. 
  • M. Swift, R.G. Swift. Psychiatric disorders and mutations at the Wolfram syndrome locus. „Biol Psychiatry”. 47 (9), s. 787–793, 2000. PMID: 10812037. 
  • M. Swift, R.G. Swift. Wolframin mutations and hospitalization for psychiatric illness. „Mol Psychiatry”. 10 (8), s. 799–803, 2005. DOI: 10.1038/sj.mp.4001681. PMID: 15852062. 
  • P. Shannon, L. Becker, J. Deck. Evidence of widespread axonal pathology in Wolfram syndrome. „Acta Neuropathol”. 98 (3), s. 304–308, 1999. PMID: 10483789. 
  • Mitochondrial myopathies. S. DiMauro, Curr Opin Rheumatol. 2006 Nov;18(6):636-41.
  • Blanc H, Adams CA, Wallace DC. Differential nucleotide changes on the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance to two human cell lines. „Nucleic Acids Res”. 9, s. 5785–5795, 1981. PMID: 6273808. 
  • Kearsey SE, Craig IW. Altered ribosomal RNA genes in mitochondria from mammalian cells with chloramphenicol resistance. „Nature”. 290, s. 607–608, 1981. PMID: 7219548. 
  • Filosto M., Tomelleri G., Tonin P., Scarpelli M., Vattemi G., Rizzuto N., Padovani A., Simonati A. Neuropathology of mitochondrial diseases. „Bioscience reports”. 1–3 (27), s. 23–30, 2007. DOI: 10.1007/s10540-007-9034-3. PMID: 17541738. 
  • Nikoskelainen EK, Marttila RJ, Huoponen K, Juvonen V, Lamminen T, Sonninen P, Savontaus ML. Leber’s „plus”: neurological abnormalities in patients with Leber’s hereditary optic neuropathy. „J Neurol Neurosurg Psychiatry”. 59. 2, s. 160–164, 1995. PMID: 7629530. 
  • Dahl, H.-H. Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome. (Editorial) Am. J. Hum. Genet. 63: 1594-1597, 1998.PubMed:9837811.
  • Hinttala R, Smeets R, Moilanen JS, Ugalde C, Uusimaa J, Smeitink JA, Majamaa K. Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency. „J Med Genet”. 43. 11, s. 881–886, 2006. DOI: 10.1136/jmg.2006.042168. PMID: 16738010. 
  • Sudo A, Honzawa S, Nonaka I, Goto Y. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. „J Hum Genet”. 49. 2, s. 92–96, 2004. DOI: 10.1007/s10038-003-0116-1. PMID: 14730434. 
  • Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. „Ann Neurol”. 54. 5, s. 665–669, 2003. DOI: 10.1002/ana.10734. PMID: 14595656. 
  • Schuelke M, Smeitink J, Mariman E, Loeffen J, Plecko B, Trijbels F, Stöckler-Ipsiroglu S, van den Heuvel L. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. „Nat Genet”. 21. 3, s. 260–261, 1999. DOI: 10.1038/6772. PMID: 10080174. 
  • Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. „J Med Genet”. 41. 1, s. 14–17, 2004. PMID: 14729820. 
  • Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B, Mullaart R, van den Heuvel L. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. „Am J Hum Genet”. 63. 6, s. 1598–1608, 1999. PMID: 9837812. 
  • Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Péquignot E, Munnich A, Rötig A. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. „Nat Genet”. 11. 2, s. 144–149, 1995. DOI: 10.1038/ng1095-144. PMID: 7550341. 
  • de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. „Nat Genet”. 29. 1, s. 57–60, 2001. DOI: 10.1038/ng706. PMID: 11528392. 
  • Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. „Hum Mol Genet”. 9. 18, s. 2733–2742, 2000. PMID: 11063732. 
  • Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. „Eur J Pediatr”. 162. 10, s. 714–718, 2003. DOI: 10.1007/s00431-003-1282-z. PMID: 12925875. 
  • Van Maldergem L, Trijbels F, DiMauro S, Sindelar PJ, Musumeci O, Janssen A, Delberghe X, Martin JJ, Gillerot Y. Coenzyme Q-responsive Leigh’s encephalopathy in two sisters. „Ann Neurol”. 52. 6, s. 750–754, 2002. DOI: 10.1002/ana.10371. PMID: 12447928. 
  • Feigin I, Wolf A. A disease in infants resembling chronic Wernicke’s encephalopathy. „J Pediatr”. 45. 3, s. 243–263, 1955. PMID: 13202022. 
  • Montpetit VJ, Andermann F, Carpenter S, Fawcett JS, Zborowska-Sluis D, Giberson HR. Subacute necrotizing encephalomyelopathy. A review and a study of two families. „Brain”. 94. 1, s. 1–30, 1971. PMID: 5552162. 
  • S.G. Pavlakis, P.C. Phillips, S. DiMauro, D.C. De Vivo i inni. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. „Ann Neurol”. 16 (4), s. 481–488, 1984. DOI: 10.1002/ana.410160409. PMID: 6093682. 
  • Michio Hirano, G. Silvestri, D.M. Blake, A. Lombes, C. Minetti, E. Bonilla, A.P. Hays, R.E. Lovelace, I. Butler, T.E. Bertorini, A.B. Threlkeld, H. Mitsumoto, L.M. Salberg, L.P. Rowland, S. DiMauro. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. „Neurology”. 44 (4), s. 721–727, 1994. PMID: 8164833. 
  • Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. „Cases J”. 1. 1, s. 158, 2008. DOI: 10.1186/1757-1626-1-158. PMID: 18801184. 
  • Kim BE., Smith K., Meagher CK., Petris MJ. A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. „The Journal of biological chemistry”. 46 (277), s. 44079–44084, 2002. DOI: 10.1074/jbc.M208737200. PMID: 12221109. 
  • Tønnesen T., Kleijer WJ., Horn N. Incidence of Menkes disease. „Human genetics”. 4 (86), s. 408–410, 1991. PMID: 1999344. 
  • Voskoboinik I., Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. „Journal of bioenergetics and biomembranes”. 5 (34), s. 363–371, 2002. PMID: 12539963. 
  • JR Mendell, Z Sahenk, TW Prior. The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability. „J Child Neurol”. 10 (2), s. 150–159, 1995. DOI: 10.1177/088307389501000219. PMID: 7782608. 
  • P. Ferrier, F. Bamatter, D. Klein, Muscular Dystrophy (Duchenne) in a Girl with Turner’s Syndrome, „Journal of Medical Genetics”, 2 (1), 1965, s. 38–46, DOI: 10.1136/jmg.2.1.38, PMID: 14296923, PMCID: PMC1012803.
  • A. Buczma, J. Windyga. Acquired haemophilia. „Pol Arch Med Wewn”. 117 (5–6), s. 241–245, 2007. PMID: 18030874.  (wersja polska: Hemofilia nabyta).
  • publikacja w otwartym dostępie – możesz ją przeczytać Clarke, Sarah L.N.; Bowron, Ann; Gonzalez, Iris L.; Groves, Sarah J.; Newbury-Ecob, Ruth; Clayton, Nicol; Martin, Robin P.; Tsai-Goodman, Beverly; Garratt, Vanessa; Ashworth, Michael; Bowen, Valerie M.; McCurdy, Katherine R.; Damin, Michaela K.; Spencer, Carolyn T.; Toth, Matthew J.; Kelley, Richard I.; Steward, Colin G. Barth syndrome. „Orphanet Journal of Rare Diseases”. 8, 2013. DOI: 10.1186/1750-1172-8-23. PMID: 23398819. PMCID: PMC3583704. 
  • L. Tranebjaerg i inni, A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22, „Journal of Medical Genetics”, 32 (4), 1995, s. 257–263, DOI: 10.1136/jmg.32.4.257, PMID: 7643352 (ang.).
  • Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. „Nat Genet”. 14. 2, s. 177–180, 1996. DOI: 10.1038/ng1096-177. PMID: 8841189. 
  • Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. „J Med Genet”. 4 (32), s. 257–263, 1995. PMID: 7643352. 
  • Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH. The genotype of the original Wiskott phenotype. „N. Engl. J. Med.”. 355 (17), s. 1790–1793, 2006. DOI: 10.1056/NEJMoa062520. PMID: 17065640. 
  • Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. „Pediatrics”. 13. 2, s. 133–139, 1954. PMID: 13133561. 
  • Jin Y., Mazza C., Christie JR., Giliani S., Fiorini M., Mella P., Gandellini F., Stewart DM., Zhu Q., Nelson DL., Notarangelo LD., Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. „Blood”. 13 (104), s. 4010–4019, 2004. DOI: 10.1182/blood-2003-05-1592. PMID: 15284122. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Macedo L.C., Soardi F.C., Ananias N., Belangero V.M., Rigatto S.Z., De-Mello M.P., D’Souza-Li L. Mutations in the vitamin D receptor gene in four patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets. „Arquivos Brasileiros de Endocrinologia & Metabologia”. 52 (8), s. 1244–1251, 2008. DOI: 10.1590/S0004-27302008000800007. PMID: 19169476. 
  • Nicolaidou P., Tsitsika A., Papadimitriou A., Karantana A., Papadopoulou A., Psychou F., Liakopoulou D., Georgouli H., Kakourou T., Chrousos G. Hereditary vitamin D-resistant rickets in Greek children: genotype, phenotype, and long-term response to treatment. „Journal of Pediatric Endocrinology & Metabolism”. 20 (3), s. 425–430, 2007. PMID: 17451081. 
  • E.E.J. Smeets, K. Pelc, B. Dan, Rett Syndrome, „Molecular Syndromology”, 2 (3–5), 2012, s. 113–127, DOI: 10.1159/000337637, ISSN 1661-8769, PMID: 22670134, PMCID: PMC3366703 [dostęp 2017-08-06].
  • Richards RI. Dynamic mutations: a decade of unstable expanded repeats in human genetic disease. „Hum Mol Genet”. 10 (20), s. 2187–2194, 2001. PMID: 11673400. 
  • publikacja w otwartym dostępie – możesz ją przeczytać Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. „J Med Genet”. 1 (37), s. 1–8, 2000. DOI: 10.1136/jmg.37.1.1. PMID: 10633128. PMCID: PMC1734457. 
  • K. Christodoulou i inni, Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity, „Neurogenetics”, 3 (3), 2001, s. 127–32, PMID: 11523563.
  • Joel M. Gottesfeld, Small molecules affecting transcription in Friedreich ataxia, „Pharmacology & Therapeutics”, 116 (2), 2007, s. 236–48, DOI: 10.1016/j.pharmthera.2007.06.014, PMID: 17826840, PMCID: PMC2080619.
  • J.M. Cooper, A.H.V. Schapira, Friedreich’s ataxia: coenzyme Q10 and vitamin E therapy, „Mitochondrion”, 7 (Suppl), 2007, s. S127-35, DOI: 10.1016/j.mito.2007.04.001, PMID: 17485244.
  • H. Puccio, M. Koenig, Friedreich ataxia: a paradigm for mitochondrial diseases, „Current Opinion in Genetics & Development”, 12 (3), 2002, s. 272–7, PMID: 12076669.
  • F. Palau, Friedreich’s ataxia and frataxin: molecular genetics, evolution and pathogenesis, „International Journal of Molecular Medicine”, 7 (6), 2001, s. 581–9, PMID: 11351269.
  • Natasha J. Caplen i inni, Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference, „Human Molecular Genetics”, 2, 2002, s. 175–184, DOI: 10.1093/hmg/11.2.175, PMID: 11809726.
  • E.C. Twist i inni, Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus., „Journal of Medical Genetics”, 1, 1995, s. 25–31, DOI: 10.1136/jmg.32.1.25, PMID: 7897622.
  • André Toulouse i inni, Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts, „Human Molecular Genetics”, 18, 2005, s. 2649–2660, DOI: 10.1093/hmg/ddi299, PMID: 16087686.
  • M.C. França, A. D’Abreu, A. Nucci, I. Lopes-Cendes. Muscle excitability abnormalities in Machado-Joseph disease. „Arch Neurol”. 65 (4), s. 525–529, 2008. DOI: 10.1001/archneur.65.4.525. PMID: 18413477. 
  • P. Coutinho, C. Andrade. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. „Neurology”. 28 (7), s. 703–709, 1978. PMID: 566869. 
  • K. Eto, S.M. Sumi, T.D. Bird, T. McEvoy-Bush i inni. Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?. „Arch Neurol”. 47 (9), s. 968–974, 1990. PMID: 2396938. 
  • P.S. Harper, P.R. Dyken. Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. „Lancet”. 2 (7767), s. 53–55, 1972. PMID: 4113301. 
  • P. Turnpenny, C. Clark, K. Kelly, Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification., „Journal of Medical Genetics”, 4, 1994, s. 300–305, DOI: 10.1136/jmg.31.4.300, PMID: 8071955.
  • T. Suominen, L.L. Bachinski, S. Auvinen, P. Hackman i inni. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. „Eur J Hum Genet”. 19 (7), s. 776–782, 2011. DOI: 10.1038/ejhg.2011.23. PMID: 21364698. 
  • DH Cho, SJ Tapscott. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. „Biochim Biophys Acta”. 1772 (2), s. 195–204, 2007. DOI: 10.1016/j.bbadis.2006.05.013. PMID: 16876389. 
  • Vermeire S. NOD2/CARD15: relevance in clinical practice. „Best Pract Res Clin Gastroenterol”. 18, s. 569–575, 2004. PMID: 15157828. 
  • Hugot J P et al. Prevalence of CARD15/NOD2 mutations in Caucasian healthy people. „Am J Gastroenterol”. 102, s. 1259–1267, 2007. DOI: 10.1111/j.1572-0241.2007.01149.x. PMID: 17319929. 
  • Hanauer SB. Inflammatory bowel disease. „N Engl J Med”. 334 (13), s. 841–848, 1996. DOI: 10.1056/NEJM199603283341307. PMID: 8596552. 
  • Mueller, M.H.; Kreis, M.E.; Gross M.L.; Becker, H.D.; Zittel, T.T.; Jehle, E.C. Anorectal functional disorders in the absence of anorectal inflammation in patients with Crohn’s disease. „Br J Surg”. 89 (8), s. 1027–1031, 2002. DOI: 10.1046/j.1365-2168.2002.02173.x. PMID: 12153630. 
  • Hampe, J, Grebe, J, Nikolaus, S, Solberg, C, Croucher, PJ, Mascheretti, S, Jahnsen, J, Moum, B, Klump, B, Krawczak, M, Mirza, MM, Foelsch, UR, Vatn, M, Schreiber, S. Association of NOD2 (CARD 15) with clinical course of Crohn’s disease: a cohort study. „Lancet”. 359. 9318, s. 1661–1665, 2002. PMID: 12020527. 
  • Wu, S, Lim, KC, Huang, J, Saidi, RF, Sears, CL. Bacteroides fragilis enterotoxin cleaves the zonula adherens protein, E-cadherin. „Proc Natl Acad Sci U S A”. 95. 25, s. 14979–14984, 1998. PMID: 9844001. 

ghr.nlm.nih.gov

  • Williams syndrome [online], Genetics Home Reference, U.S. National Library of Medicine, 2010.
  • 47,XYY Syndrome [online], Genetics Home Reference, U.S. National Library of Medicine [dostęp 2006-08-28] (ang.).
  • XYY Syndrome [online], Genetics Home Reference, U.S. National Library of Medicine [dostęp 2010-10-06] (ang.).
  • Tangier disease [online], Genetics Home Reference, U.S. National Library of Medicine (ang.).
  • Glossary > Premutation. Genetics Home Reference, November 19, 2013. [dostęp 2013-11-23]. (ang.).

rarediseases.info.nih.gov

meshb.nlm.nih.gov

pubmed.ncbi.nlm.nih.gov

omim.org

orpha.net

pam.szczecin.pl

genetyka.pam.szczecin.pl

parisdescartes.fr

biusante.parisdescartes.fr

pbkom.eu

pnas.org

preventblindness.org

lowvision.preventblindness.org

puo.pl

  • Marek P. Nowacki, Dorota Nowakowska, Andrzej Rutkowski, Rak jelita grubego [online], Polska Unia Onkologii [dostęp 2016-12-23] [zarchiwizowane z adresu 2013-09-23].

pwn.pl

encyklopedia.pwn.pl

researchgate.net

  • Katarzyna Grzanka, Eugeniusz Józef Kucharz, Krzywica oporna na witaminę D, „ResearchGate” [dostęp 2016-12-22].

scientificamerican.com

termedia.pl

thefreedictionary.com

medical-dictionary.thefreedictionary.com

thelancet.com

ubc.ca

medgen.med.ubc.ca

umd.be

umdf.org

univ-paris5.fr

web2.bium.univ-paris5.fr

urologiapolska.pl

viamedica.pl

web.archive.org

who.int

whonamedit.com

worldcat.org

wspolnie.org

  • Karolina Maślanka, Zespół Angelmana [online], Stowarzyszenie na Rzecz Dzieci z Rzadkimi Chorobami Genetycznymi i Ich Rodzin „Wspólnie”.