Sindrome di Klinefelter (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sindrome di Klinefelter" in Italian language version.

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The Focus Foundation. X & Y Variations. thefocusfoundation.org Archiviato il 13 gennaio 2013 in Archive.is.

archive.org

(EN) Ramzi S. Cotran, Vinay Kumar, Nelson Fausto, Stanley L. Robbins, Abul K. Abbas, Robbins and Cotran pathologic basis of disease, St. Louis, Elsevier Saunders, 2005, p. 179, ISBN 0-7216-0187-1..
Klinefelter HF Jr, Reifenstein EC Jr, Albright F., Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone, in J Clin Endocrinol Metab, vol. 2, n. 11, 1942, pp. 615-624, DOI:10.1210/jcem-2-11-615.
(EN) Holub D, Grumbach M, Jailer J, Seminiferous tubule dysgenesis (Klinefelter's syndrome) in identical twins, in J Clin Endocrinol Metab, vol. 18, n. 12, dicembre 1958, pp. 1359-68, PMID 13611020.
(EN) Visootsak J, Aylstock M, Graham JM Jr, Klinefelter syndrome and its variants: an update and review for the primary pediatrician, in Clin Pediatr (Phila), vol. 40, n. 12, dicembre 2001, pp. 639-51, PMID 11771918.
Mazzocco e Ross, p. 50. (EN) Michele Mazzocco, Judith Ross, Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood, MIT Press, 2007, ISBN 978-0-262-13480-4.
Cassidy e Allanson. (EN) Suzanne B. Cassidy, Judith E. Allanson, Management of Genetic Syndromes, Wiley-Liss, 2001, ISBN 978-0-471-31286-4.
Jacobs PA, The William Allan Memorial Award address: human population cytogenetics: the first twenty-five annos, in Am J Hum Genet, vol. 34, n. 5, settembre 1982, pp. 689-98, PMC 1685430, PMID 6751075.
(EN) Fraccaro M, Kaijser K, Lindsten J, A child with 49 chromosomes, in Lancet, vol. 2, n. 7156, ottobre 1960, pp. 899-902, PMID 13701146.
(EN) Laron Z, Hochman IH, Small testes in prepubetal boys with Klinefelter's syndrome, in J Clin Endocrinol Metab, vol. 32, n. 5, maggio 1971, pp. 671-2, PMID 5577887.
(EN) Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, Ross JL, Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome, in J Pediatr, vol. 152, n. 5, maggio 2008, pp. 716-22, PMID 18410780.
Mazzocco e Ross, p. 52. (EN) Michele Mazzocco, Judith Ross, Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood, MIT Press, 2007, ISBN 978-0-262-13480-4.
(EN) Graham JM Jr, Bashir AS, Stark RE, Silbert A, Walzer S, Oral and written language abilities of XXY boys: implications for anticipatory guidance, in Pediatrics, vol. 81, n. 6, giugno 1988, pp. 795-806, PMID 3368277.
(EN) Nielsen J, Johnsen SG, Sørensen K, Follow-up 10 annos later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY, in Psychol Med, vol. 10, n. 2, maggio 1980, pp. 345-52, PMID 7384334.
(EN) Ratcliffe SG, Bancroft J, Axworthy D, McLaren W, Klinefelter's syndrome in adolescence, in Arch Dis Child, vol. 57, n. 1, gennaio 1982, pp. 6-12, PMID 7065696.
Davies W, Isles AR, Wilkinson LS, Imprinted genes and mental dysfunction, in Ann. Med., vol. 33, n. 6, settembre 2001, pp. 428-36, PMID 11585104.
Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H, A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?, in Trends Genet., vol. 17, n. 12, dicembre 2001, pp. 697-701, PMID 11718922.
Ratcliffe S, Long-term outcome in children of sex chromosome abnormalities, in Arch. Dis. Child., vol. 80, n. 2, febbraio 1999, pp. 192-5, PMC 1717826, PMID 10325742.
Bender BG, Puck MH, Salbenblatt JA, Robinson A, Dyslexia in 47,XXY boys identified at birth, in Behav. Genet., vol. 16, n. 3, maggio 1986, pp. 343-54, PMID 3753369.
Ratcliffe SG, Turner's syndrome, in Arch. Dis. Child., vol. 61, n. 9, settembre 1986, p. 928, PMC 1778025, PMID 3767428.
Rovet J, Netley C, Keenan M, Bailey J, Stewart D, The psychoeducational profile of boys with Klinefelter syndrome, in J Learn Disabil, vol. 29, n. 2, marzo 1996, pp. 180-96, PMID 8820203.
Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA, Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study, in J. Natl. Cancer Inst., vol. 97, n. 16, agosto 2005, pp. 1204-10, DOI:10.1093/jnci/dji240, PMID 16106025.
(EN) Abramsky L, Chapple J, 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling, in Prenat Diagn, vol. 17, n. 4, aprile 1997, pp. 363-8, PMID 9160389.
Sanz-Cortés M, Raga F, Cuesta A, Claramunt R, Bonilla-Musoles F, Prenatally detected double trisomy: Klinefelter and Down syndrome, in Prenat. Diagn., vol. 26, n. 11, novembre 2006, pp. 1078-80, DOI:10.1002/pd.1561, PMID 16958145.

disabilitaintellettive.it

Incidenza sindromi genetiche causa di ritardo mentale, su disabilitaintellettive.it. URL consultato il 21 ottobre 2012.

doi.org

dx.doi.org

Liane Brauch Russell, Genetics of Mammalian Sex Chromosomes: mouse studies throw light on the functions and on the occasionally aberrant behavior of sex chromosomes, in Science, vol. 133, n. 3467, 9 giugno 1961, pp. 1795-1803, DOI:10.1126/science.133.3467.1795.
Klinefelter HF Jr, Reifenstein EC Jr, Albright F., Syndrome characterized by gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone, in J Clin Endocrinol Metab, vol. 2, n. 11, 1942, pp. 615-624, DOI:10.1210/jcem-2-11-615.
Klinefelter HF, Klinefelter syndrome: historical background and development, in South Med J, vol. 79, n. 45, 1986, pp. 1089-1093, DOI:10.1097/00007611-198609000-00012, PMID 3529433.
Matlach J, Grehn F, Klink T, Klinefelter Syndrome Associated With Goniodysgenesis, in J Glaucoma, gennaio 2012, DOI:10.1097/IJG.0b013e31824477ef, PMID 22274665.
Joan K Morris, Eva Alberman, Claire Scott e Patricia Jacobs, Is the prevalence of Klinefelter syndrome increasing?, in European Journal of Human Genetics, vol. 16, n. 2, 2007, pp. 163-170, DOI:10.1038/sj.ejhg.5201956.
Verri A, Cremante A, Clerici F, Destefani V, Radicioni A, Klinefelter's syndrome and psychoneurologic function, in Mol. Hum. Reprod., vol. 16, n. 6, giugno 2010, pp. 425-33, DOI:10.1093/molehr/gaq018, PMID 20197378.
Chow JC, Yen Z, Ziesche SM, Brown CJ, Silencing of the mammalian X chromosome, in Annu Rev Genomics Hum Genet, vol. 6, 2005, pp. 69-92, DOI:10.1146/annurev.genom.6.080604.162350, PMID 16124854.
Blaschke RJ, Rappold G, The pseudoautosomal regions, SHOX and disease, in Curr. Opin. Genet. Dev., vol. 16, n. 3, giugno 2006, pp. 233-9, DOI:10.1016/j.gde.2006.04.004, PMID 16650979.
Jacobs PA, Strong JA, A case of human intersexuality having a possible XXY sex-determining mechanism, in Nature, vol. 183, n. 4657, 31 gennaio 1959, pp. 302-3, DOI:10.1038/183302a0, PMID 13632697.
(EN) Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P, 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome, in Acta Paediatr., vol. 100, n. 6, giugno 2011, pp. 851-60, DOI:10.1111/j.1651-2227.2011.02235.x, PMC 3314712, PMID 21342258.
(EN) Frühmesser A, Kotzot D, Chromosomal variants in klinefelter syndrome, in Sex Dev, vol. 5, n. 3, 2011, pp. 109-23, DOI:10.1159/000327324, PMID 21540567.
(EN) Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, Kallipolitis G, Hatzaki A, Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report, in Eur J Med Genet, vol. 49, n. 4, 2006, pp. 331-7, DOI:10.1016/j.ejmg.2005.09.001, PMID 16829354.
F. Tüttelmann, J. Gromoll, Novel genetic aspects of Klinefelter's syndrome., in Mol Hum Reprod, vol. 16, n. 6, giugno 2010, pp. 386-95, DOI:10.1093/molehr/gaq019, PMID 20228051.
Aksglaede L, Wikström AM, Rajpert-De Meyts E, Dunkel L, Skakkebaek NE, Juul A, Natural history of seminiferous tubule degeneration in Klinefelter syndrome, in Hum. Reprod. Update, vol. 12, n. 1, 2006, pp. 39-48, DOI:10.1093/humupd/dmi039, PMID 16172111.
Davies W, Isles AR, Burgoyne PS, Wilkinson LS, X-linked imprinting: effects on brain and behaviour, in Bioessays, vol. 28, n. 1, gennaio 2006, pp. 35-44, DOI:10.1002/bies.20341, PMID 16369947.
Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, Creswell C, McGurk R, Jacobs PA, Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function, in Nature, vol. 387, n. 6634, giugno 1997, pp. 705-8, DOI:10.1038/42706, PMID 9192895.
Reik W, Walter J, Genomic imprinting: parental influence on the genome, in Nat. Rev. Genet., vol. 2, n. 1, gennaio 2001, pp. 21-32, DOI:10.1038/35047554, PMID 11253064.
Kato Y, Sasaki H, Imprinting and looping: epigenetic marks control interactions between regulatory elements, in Bioessays, vol. 27, n. 1, gennaio 2005, pp. 1-4, DOI:10.1002/bies.20171, PMID 15612042.
Delaval K, Feil R, Epigenetic regulation of mammalian genomic imprinting, in Curr. Opin. Genet. Dev., vol. 14, n. 2, aprile 2004, pp. 188-95, DOI:10.1016/j.gde.2004.01.005, PMID 15196466.
Verona RI, Mann MR, Bartolomei MS, Genomic imprinting: intricacies of epigenetic regulation in clusters, in Annu. Rev. Cell Dev. Biol., vol. 19, 2003, pp. 237-59, DOI:10.1146/annurev.cellbio.19.111401.092717, PMID 14570570.
Haig D, Genomic imprinting and kinship: how good is the evidence?, in Annu. Rev. Genet., vol. 38, 2004, pp. 553-85, DOI:10.1146/annurev.genet.37.110801.142741, PMID 15568986.
Davies W, Isles AR, Wilkinson LS, Imprinted gene expression in the brain, in Neurosci Biobehav Rev, vol. 29, n. 3, maggio 2005, pp. 421-30, DOI:10.1016/j.neubiorev.2004.11.007, PMID 15820547.
(EN) Vallender EJ, Pearson NM, Lahn BT, The X chromosome: not just her brother's keeper, in Nat. Genet., vol. 37, n. 4, aprile 2005, pp. 343-5, DOI:10.1038/ng0405-343, PMID 15800647.
(EN) Ross MT, Grafham DV, Coffey AJ, et al., The DNA sequence of the human X chromosome, in Nature, vol. 434, n. 7031, marzo 2005, pp. 325-37, DOI:10.1038/nature03440, PMC 2665286, PMID 15772651.
Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL, Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome, in J. Clin. Endocrinol. Metab., vol. 90, n. 9, settembre 2005, pp. 5041-6, DOI:10.1210/jc.2005-0432, PMID 15956082.
Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E, X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients, in J. Clin. Endocrinol. Metab., vol. 89, n. 12, dicembre 2004, pp. 6208-17, DOI:10.1210/jc.2004-1424, PMID 15579779.
JC. Giltay, MC. Maiburg, Klinefelter syndrome: clinical and molecular aspects., in Expert Rev Mol Diagn, vol. 10, n. 6, settembre 2010, pp. 765-76, DOI:10.1586/erm.10.63, PMID 20843200.
Rovet J, Netley C, Bailey J, Keenan M, Stewart D, Intelligence and achievement in children with extra X aneuploidy: a longitudinal perspective, in Am. J. Med. Genet., vol. 60, n. 5, ottobre 1995, pp. 356-63, DOI:10.1002/ajmg.1320600503, PMID 8546146.
Grace RJ, Klinefelter's syndrome: a late diagnosis, in Lancet, vol. 364, n. 9430, 2004, p. 284, DOI:10.1016/S0140-6736(04)16679-8, PMID 15262107.
J. T. Manning, L. P. Kilduff e R. Trivers, Digit ratio (2D:4D) in Klinefelter's syndrome, in Andrology, vol. 1, n. 1, 2013-01, pp. 94-99, DOI:10.1111/j.2047-2927.2012.00013.x. URL consultato l'11 aprile 2021.
Bojesen A, Juul S, Birkebaek NH, Gravholt CH, Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses, in J. Clin. Endocrinol. Metab., vol. 91, n. 4, aprile 2006, pp. 1254-60, DOI:10.1210/jc.2005-0697, PMID 16394093.
Pacenza N, Pasqualini T, Gottlieb S, Knoblovits P, Costanzo PR, Stewart Usher J, Rey RA, Martínez MP, Aszpis S, Clinical Presentation of Klinefelter's Syndrome: Differences According to Age, in Int J Endocrinol, vol. 2012, 2012, p. 324835, DOI:10.1155/2012/324835, PMC 3265068, PMID 22291701.
Bengt Zöller, Jianguang Ji e Jan Sundquist, High Risk of Venous Thromboembolism in Klinefelter Syndrome, in Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, vol. 5, n. 5, 20 maggio 2016, DOI:10.1161/JAHA.116.003567. URL consultato il 22 marzo 2021.
Swerdlow AJ, Hermon C, Jacobs PA, Alberman E, Beral V, Daker M, Fordyce A, Youings S, Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study, in Ann. Hum. Genet., vol. 65, Pt 2, marzo 2001, pp. 177-88, DOI:10.1017/S0003480001008569, PMID 11427177.
Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA, Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study, in J. Natl. Cancer Inst., vol. 97, n. 16, agosto 2005, pp. 1204-10, DOI:10.1093/jnci/dji240, PMID 16106025.
(EN) Ferlin A, Garolla A, Foresta C, Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities, in Cytogenet. Genome Res., vol. 111, n. 3-4, 2005, pp. 310-6, DOI:10.1159/000086905, PMID 16192710.
(EN) Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E, Klinefelter's syndrome, in Lancet, vol. 364, n. 9430, 2004, pp. 273-83, DOI:10.1016/S0140-6736(04)16678-6, PMID 15262106.
(EN) Bojesen A, Gravholt CH, Klinefelter syndrome in clinical practice, in Nat Clin Pract Urol, vol. 4, n. 4, aprile 2007, pp. 192-204, DOI:10.1038/ncpuro0775, PMID 17415352.
Sanz-Cortés M, Raga F, Cuesta A, Claramunt R, Bonilla-Musoles F, Prenatally detected double trisomy: Klinefelter and Down syndrome, in Prenat. Diagn., vol. 26, n. 11, novembre 2006, pp. 1078-80, DOI:10.1002/pd.1561, PMID 16958145.
Wikström AM, Dunkel L, Klinefelter syndrome, in Best Pract. Res. Clin. Endocrinol. Metab., vol. 25, n. 2, aprile 2011, pp. 239-50, DOI:10.1016/j.beem.2010.09.006, PMID 21397196.
Fullerton G, Hamilton M, Maheshwari A., Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?, in Hum Reprod., vol. 25, n. 3, 2010, pp. 588-97, DOI:10.1093/humrep/dep431, PMID 20085911.
Schiff JD, Palermo GD, Veeck LL, Goldstein M, Rosenwaks Z, Schlegel PN, Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome, in J. Clin. Endocrinol. Metab., vol. 90, n. 11, novembre 2005, pp. 6263-7, DOI:10.1210/jc.2004-2322, PMID 16131585.
(EN) Vignozzi L, Corona G, Forti G, Jannini EA, Maggi M, Clinical and therapeutic aspects of Klinefelter's syndrome: sexual function, in Mol. Hum. Reprod., vol. 16, n. 6, giugno 2010, pp. 418-24, DOI:10.1093/molehr/gaq022, PMID 20348547.
(EN) Herlihy AS, McLachlan RI, Gillam L, Cock ML, Collins V, Halliday JL, The psychosocial impact of Klinefelter syndrome and factors influencing quality of life, in Genet. Med., vol. 13, n. 7, luglio 2011, pp. 632-42, DOI:10.1097/GIM.0b013e3182136d19, PMID 21546843.
(EN) Bojesen A, Juul S, Birkebaek N, Gravholt CH, Increased mortality in Klinefelter syndrome ^{[collegamento interrotto]}, in J. Clin. Endocrinol. Metab., vol. 89, n. 8, agosto 2004, pp. 3830-4, DOI:10.1210/jc.2004-0777, PMID 15292313.
(EN) Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA, Mortality in patients with Klinefelter syndrome in Britain: a cohort study ^{[collegamento interrotto]}, in J. Clin. Endocrinol. Metab., vol. 90, n. 12, dicembre 2005, pp. 6516-22, DOI:10.1210/jc.2005-1077, PMID 16204366.

endorivistas.org

jcem.endorivistas.org

(EN) Bojesen A, Juul S, Birkebaek N, Gravholt CH, Increased mortality in Klinefelter syndrome ^{[collegamento interrotto]}, in J. Clin. Endocrinol. Metab., vol. 89, n. 8, agosto 2004, pp. 3830-4, DOI:10.1210/jc.2004-0777, PMID 15292313.
(EN) Swerdlow AJ, Higgins CD, Schoemaker MJ, Wright AF, Jacobs PA, Mortality in patients with Klinefelter syndrome in Britain: a cohort study ^{[collegamento interrotto]}, in J. Clin. Endocrinol. Metab., vol. 90, n. 12, dicembre 2005, pp. 6516-22, DOI:10.1210/jc.2005-1077, PMID 16204366.

medscape.com

emedicine.medscape.com

(EN) Harold Chen, Klinefelter Syndrome Differential Diagnoses, su emedicine.medscape.com, medscape.com. URL consultato il 18 agosto 2012.
(EN) Harold Chen, Klinefelter Syndrome - Treatment, su emedicine.medscape.com, medscape.com. URL consultato il 4 settembre 2012.
(EN) Medscape - follow-up, su emedicine.medscape.com. URL consultato il 19 agosto 2012.

nature.com

(EN) Bojesen A, Gravholt CH, Klinefelter syndrome in clinical practice, in Nat Clin Pract Urol, vol. 4, n. 4, aprile 2007, pp. 192-204, DOI:10.1038/ncpuro0775, PMID 17415352.

nih.gov

ncbi.nlm.nih.gov

Klinefelter HF, Klinefelter syndrome: historical background and development, in South Med J, vol. 79, n. 45, 1986, pp. 1089-1093, DOI:10.1097/00007611-198609000-00012, PMID 3529433.
(EN) Holub D, Grumbach M, Jailer J, Seminiferous tubule dysgenesis (Klinefelter's syndrome) in identical twins, in J Clin Endocrinol Metab, vol. 18, n. 12, dicembre 1958, pp. 1359-68, PMID 13611020.
(EN) Bojesen A, Juul S, Gravholt CH, Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study, in Clin Endocrinol Metab, vol. 88, n. 2, 2003, pp. 622-6, PMID 12574191.
(EN) Jacobs PA, Recurrence risks for chromosome abnormalities, in Birth Defects Orig Artic Ser, vol. 15, 5C, 1979, pp. 71-8, PMID 526617.
(EN) MacLean et al, Abnormalities of sex chromosome constitution in newborn babies, in Lancet, vol. 19, 2(7199), agosto 1961, pp. 406-8, PMID 13764957.
(EN) Visootsak J, Aylstock M, Graham JM Jr, Klinefelter syndrome and its variants: an update and review for the primary pediatrician, in Clin Pediatr (Phila), vol. 40, n. 12, dicembre 2001, pp. 639-51, PMID 11771918.
Matlach J, Grehn F, Klink T, Klinefelter Syndrome Associated With Goniodysgenesis, in J Glaucoma, gennaio 2012, DOI:10.1097/IJG.0b013e31824477ef, PMID 22274665.
Verri A, Cremante A, Clerici F, Destefani V, Radicioni A, Klinefelter's syndrome and psychoneurologic function, in Mol. Hum. Reprod., vol. 16, n. 6, giugno 2010, pp. 425-33, DOI:10.1093/molehr/gaq018, PMID 20197378.
Chow JC, Yen Z, Ziesche SM, Brown CJ, Silencing of the mammalian X chromosome, in Annu Rev Genomics Hum Genet, vol. 6, 2005, pp. 69-92, DOI:10.1146/annurev.genom.6.080604.162350, PMID 16124854.
Blaschke RJ, Rappold G, The pseudoautosomal regions, SHOX and disease, in Curr. Opin. Genet. Dev., vol. 16, n. 3, giugno 2006, pp. 233-9, DOI:10.1016/j.gde.2006.04.004, PMID 16650979.
Jacobs PA, Strong JA, A case of human intersexuality having a possible XXY sex-determining mechanism, in Nature, vol. 183, n. 4657, 31 gennaio 1959, pp. 302-3, DOI:10.1038/183302a0, PMID 13632697.
Jacobs PA, The William Allan Memorial Award address: human population cytogenetics: the first twenty-five annos, in Am J Hum Genet, vol. 34, n. 5, settembre 1982, pp. 689-98, PMC 1685430, PMID 6751075.
(EN) Linden MG, Bender BG, Robinson A, Sex chromosome tetrasomy and pentasomy, in Pediatrics, vol. 96, 4 Pt 1, ottobre 1995, pp. 672-82, PMID 7567329.
(EN) Patacchiola F, Sciarra A, Di Fonso A, D'Alfonso A, Carta G, 49, XXXXY syndrome: an Italian child, in J. Pediatr. Endocrinol. Metab., vol. 25, n. 1-2, 2012, pp. 165-6, PMID 22570969.
(EN) Fraccaro M, Kaijser K, Lindsten J, A child with 49 chromosomes, in Lancet, vol. 2, n. 7156, ottobre 1960, pp. 899-902, PMID 13701146.
(EN) Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P, 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome, in Acta Paediatr., vol. 100, n. 6, giugno 2011, pp. 851-60, DOI:10.1111/j.1651-2227.2011.02235.x, PMC 3314712, PMID 21342258.
(EN) Frühmesser A, Kotzot D, Chromosomal variants in klinefelter syndrome, in Sex Dev, vol. 5, n. 3, 2011, pp. 109-23, DOI:10.1159/000327324, PMID 21540567.
(EN) Lim AS, Fong Y, Yu SL, Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient, in Hum. Genet., vol. 104, n. 5, maggio 1999, pp. 405-9, PMID 10394932.
(EN) Velissariou V, Christopoulou S, Karadimas C, Pihos I, Kanaka-Gantenbein C, Kapranos N, Kallipolitis G, Hatzaki A, Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report, in Eur J Med Genet, vol. 49, n. 4, 2006, pp. 331-7, DOI:10.1016/j.ejmg.2005.09.001, PMID 16829354.
(EN) Laron Z, Hochman IH, Small testes in prepubetal boys with Klinefelter's syndrome, in J Clin Endocrinol Metab, vol. 32, n. 5, maggio 1971, pp. 671-2, PMID 5577887.
(EN) Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, Ross JL, Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome, in J Pediatr, vol. 152, n. 5, maggio 2008, pp. 716-22, PMID 18410780.
(EN) Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS, Pituitary-gonadal function in Klinefelter syndrome before and during puberty, in Pediatr Res, vol. 19, n. 1, gennaio 1985, pp. 82-6, PMID 3918293.
(EN) Stewart DA, Bailey JD, Netley CT, Park E, Growth, development, and behavioral outcome from mid-adolescence to adulthood in subjects with chromosome aneuploidy: the Toronto Study, in Birth Defects Orig Artic Ser, vol. 26, n. 4, 1990, pp. 131-88, PMID 2090316.
(EN) Kamischke A, Baumgardt A, Horst J, Nieschlag E, Clinical and diagnostic features of patients with suspected Klinefelter syndrome, in J Androl, vol. 24, n. 1, Jan-Feb 2003, pp. 41-8, PMID 12514081.
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nichd.nih.gov

Klinefelter Syndrome, su Health Information, National Institute of Health and Human Development, 19 febbraio 2007. URL consultato il 24 marzo 2007. and Klinefelter syndrome, su Genetics Home Reference, National Library of Medicine, 2006. URL consultato il 24 marzo 2007 (archiviato dall'url originale il 23 marzo 2007). both provide statistical estimates.

pubmed.ncbi.nlm.nih.gov

J. T. Manning, L. P. Kilduff e R. Trivers, Digit ratio (2D:4D) in Klinefelter's syndrome, in Andrology, vol. 1, n. 1, 2013-01, pp. 94-99, DOI:10.1111/j.2047-2927.2012.00013.x. URL consultato l'11 aprile 2021.

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thefocusfoundation.org

The Focus Foundation. X & Y Variations. thefocusfoundation.org Archiviato il 13 gennaio 2013 in Archive.is.

web.archive.org

Robert Bock, Understanding Klinefelter Syndrome: A Guide for XXY Males and their Families, su NIH Pub. No. 93-3202, Office of Research Reporting, NICHD, agosto 1993. URL consultato il 7 aprile 2007 (archiviato dall'url originale il 7 luglio 2007).
Klinefelter Syndrome, su Health Information, National Institute of Health and Human Development, 19 febbraio 2007. URL consultato il 24 marzo 2007. and Klinefelter syndrome, su Genetics Home Reference, National Library of Medicine, 2006. URL consultato il 24 marzo 2007 (archiviato dall'url originale il 23 marzo 2007). both provide statistical estimates.