Aconselhamento genético (Portuguese Wikipedia)

Analysis of information sources in references of the Wikipedia article "Aconselhamento genético" in Portuguese language version.

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29worldcat.org

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28doi.org

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24nih.gov

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3scielo.br

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1scielosp.org

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1famerp.br

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1oup.com

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1sciencedirect.com

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doi.org

dx.doi.org

BRUNONI, Décio. Aconselhamento Genético. Ciênc. saúde coletiva, Rio de Janeiro , v. 7, n. 1, jan. 2002 . Disponível em <http://www.scielosp.org/scielo.php?script=sci_arttext&pid=S1413-81232002000100009&lng=pt&nrm=iso>. acessos em 29 dez. 2014. http://dx.doi.org/10.1590/S1413-81232002000100009.
Pina-Neto, João Monteiro de (agosto de 2008). «Genetic counseling». Jornal de Pediatria. 84 (4): S20–S26. ISSN 0021-7557. doi:10.1590/S0021-75572008000500004
Pina-Neto, João Monteiro de (agosto de 2008). «Genetic counseling». Jornal De Pediatria. 84 (4 Suppl): S20–26. ISSN 1678-4782. PMID 18791650. doi:10.2223/JPED.1782
Melo, Débora Gusmão; Germano, Carla Maria Ramos; Porciúncula, Carlos Guilherme Gaelzer; Paiva, Isaias Soares de; Neri, João Ivanildo da Costa Ferreira; Avó, Lucimar Retto da Silva de; Demarzo, Marcelo Marcos Piva; Galera, Marcial Francis; Melo, Débora Gusmão (2017). «Qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the Brazilian National Health System (SUS)». Interface - Comunicação, Saúde, Educação. 21: 1205–1216. ISSN 1414-3283. doi:10.1590/1807-57622016.0211
Marsiglia, Júlia Daher Carneiro; Pereira, Alexandre Costa (março de 2014). «Cardiomiopatia Hipertrófica: Como as Mutações Levam à Doença?». Arquivos Brasileiros de Cardiologia. 102 (3): 295–304. ISSN 0066-782X. doi:10.5935/abc.20140022
M., Elliott, Perry; Aris, Anastasakis,; A., Borger, Michael; Martin, Borggrefe,; Franco, Cecchi,; Philippe, Charron,; Alain, Hagege, Albert; Antoine, Lafont,; Giuseppe, Limongelli, (29 de agosto de 2014). «2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy». European Heart Journal (em inglês). 35 (39): 2733–2779. ISSN 0195-668X. doi:10.1093/eurheartj/ehu284
Smart, Andrew (dezembro de 2010). «Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and Long QT syndrome: a qualitative study of patient experiences». Journal of Genetic Counseling. 19 (6): 630–639. ISSN 1573-3599. PMID 20680418. doi:10.1007/s10897-010-9314-0
«Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia». Journal of Clinical Lipidology (em inglês). 5 (3): S1–S8. 1 de junho de 2011. ISSN 1933-2874. doi:10.1016/j.jacl.2011.04.003
Nherera, L.; Marks, D.; Minhas, R.; Thorogood, M.; Humphries, S. E. (julho de 2011). «Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies». Heart (British Cardiac Society). 97 (14): 1175–1181. ISSN 1468-201X. PMID 21685482. doi:10.1136/hrt.2010.213975
Sorensen, Page L.; Gane, Louise W.; Yarborough, Mark; Hagerman, Randi J.; Tassone, Flora (janeiro de 2013). «Newborn screening and cascade testing for FMR1 mutations». American Journal of Medical Genetics. Part A. 161A (1): 59–69. ISSN 1552-4833. PMC 3980469. PMID 23239591. doi:10.1002/ajmg.a.35680
Marsiglia, Júlia Daher Carneiro; Pereira, Alexandre Costa (março de 2014). «Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease?». Arquivos brasileiros de cardiologia. 102 (3): 295–304. ISSN 0066-782X. PMC 3987320. PMID 24714796. doi:10.5935/abc.20140022
Lipman, Peter J.; Yip, Wai-Ki; AlChawa, Taofik; Ludwig, Kerstin U.; Mangold, Elisabeth; Lange, Christoph (dezembro de 2011). «On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium». Genetic Epidemiology. 35 (8): 880–886. ISSN 1098-2272. PMC 4181609. PMID 22125225. doi:10.1002/gepi.20638
Massaro, J. D.; Wiezel, C. E. V.; Muniz, Y. C. N.; Rego, E. M.; de Oliveira, L. C. O.; Mendes-Junior, C. T.; Simões, A. L. (setembro de 2011). «Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population». Haemophilia: The Official Journal of the World Federation of Hemophilia. 17 (5): e936–943. ISSN 1365-2516. PMID 21649803. doi:10.1111/j.1365-2516.2011.02592.x
Pereira, Fernanda dos Santos; Matte, Ursula; Habekost, Clarissa Troller; de Castilhos, Raphael Machado; El Husny, Antonette Souto; Lourenço, Charles Marques; Vianna-Morgante, Angela M.; Giuliani, Liane; Galera, Marcial Francis (2012). «Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy». PloS One. 7 (3): e34195. ISSN 1932-6203. PMC 3315551. PMID 22479560. doi:10.1371/journal.pone.0034195
Phylipsen, Marion; Yamsri, Supawadee; Treffers, Emmely E.; Jansen, Diahann T. S. L.; Kanhai, Warsha A.; Boon, Elles M. J.; Giordano, Piero C.; Fucharoen, Supan; Bakker, Egbert (junho de 2012). «Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis». Prenatal Diagnosis. 32 (6): 578–587. ISSN 1097-0223. PMID 22517437. doi:10.1002/pd.3864
Laurie, A. D.; Hill, A. M.; Harraway, J. R.; Fellowes, A. P.; Phillipson, G. T.; Benny, P. S.; Smith, M. P.; George, P. M. (abril de 2010). «Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches». Journal of thrombosis and haemostasis: JTH. 8 (4): 783–789. ISSN 1538-7836. PMID 20102489. doi:10.1111/j.1538-7836.2010.03768.x
Katsanis, Sara Huston; Katsanis, Nicholas (junho de 2013). «Molecular genetic testing and the future of clinical genomics». Nature reviews. Genetics. 14 (6): 415–426. ISSN 1471-0056. PMC 4461364. PMID 23681062. doi:10.1038/nrg3493
Bakker, Egbert (abril de 2006). «Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed». Clinical Chemistry. 52 (4): 557–558. ISSN 0009-9147. PMID 16595822. doi:10.1373/clinchem.2005.066068
Murphy, Kathleen M.; Berg, Karin D.; Eshleman, James R. (janeiro de 2005). «Sequencing of genomic DNA by combined amplification and cycle sequencing reaction». Clinical Chemistry. 51 (1): 35–39. ISSN 0009-9147. PMID 15514094. doi:10.1373/clinchem.2004.039164
SenGupta, Dhruba J.; Cookson, Brad T. (maio de 2010). «SeqSharp: A general approach for improving cycle-sequencing that facilitates a robust one-step combined amplification and sequencing method». The Journal of molecular diagnostics: JMD. 12 (3): 272–277. ISSN 1943-7811. PMC 2860461. PMID 20203000. doi:10.2353/jmoldx.2010.090134
Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin (fevereiro de 2011). «Noonan syndrome and clinically related disorders». Best Practice & Research. Clinical Endocrinology & Metabolism. 25 (1): 161–179. ISSN 1878-1594. PMC 3058199. PMID 21396583. doi:10.1016/j.beem.2010.09.002
Zanke, Brent; Hawken, Steven; Carter, Ronald; Chow, David (fevereiro de 2010). «A genetic approach to stratification of risk for age-related macular degeneration». Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie. 45 (1): 22–27. ISSN 1715-3360. PMID 20130705. doi:10.3129/i09-209
Schaaf, Christian P.; Wiszniewska, Joanna; Beaudet, Arthur L. (2011). «Copy number and SNP arrays in clinical diagnostics». Annual Review of Genomics and Human Genetics. 12: 25–51. ISSN 1545-293X. PMID 21801020. doi:10.1146/annurev-genom-092010-110715
Tiu, Ramon V.; Gondek, Lukasz P.; O'Keefe, Christine L.; Elson, Paul; Huh, Jungwon; Mohamedali, Azim; Kulasekararaj, Austin; Advani, Anjali S.; Paquette, Ronald (28 de abril de 2011). «Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies». Blood. 117 (17): 4552–4560. ISSN 1528-0020. PMC 3099573. PMID 21285439. doi:10.1182/blood-2010-07-295857
Imai, Kenta; Kricka, Larry J.; Fortina, Paolo (março de 2011). «Concordance study of 3 direct-to-consumer genetic-testing services». Clinical Chemistry. 57 (3): 518–521. ISSN 1530-8561. PMID 21159896. doi:10.1373/clinchem.2010.158220
Reid, Robert J.; McBride, Colleen M.; Alford, Sharon Hensley; Price, Cristofer; Baxevanis, Andreas D.; Brody, Lawrence C.; Larson, Eric B. (outubro de 2012). «Association between health-service use and multiplex genetic testing». Genetics in Medicine: Official Journal of the American College of Medical Genetics. 14 (10): 852–859. ISSN 1530-0366. PMC 3424345. PMID 22595941. doi:10.1038/gim.2012.52
Haines, Jonathan L.; Hauser, Michael A.; Schmidt, Silke; Scott, William K.; Olson, Lana M.; Gallins, Paul; Spencer, Kylee L.; Kwan, Shu Ying; Noureddine, Maher (15 de abril de 2005). «Complement factor H variant increases the risk of age-related macular degeneration». Science (New York, N.Y.). 308 (5720): 419–421. ISSN 1095-9203. PMID 15761120. doi:10.1126/science.1110359
Gold, Bert; Merriam, Joanna E.; Zernant, Jana; Hancox, Lisa S.; Taiber, Andrew J.; Gehrs, Karen; Cramer, Kevin; Neel, Julia; Bergeron, Julie (abril de 2006). «Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration». Nature Genetics. 38 (4): 458–462. ISSN 1061-4036. PMC 2921703. PMID 16518403. doi:10.1038/ng1750

famerp.br

repositorio-racs.famerp.br

«Bertollo, Eny Maria Goloni, Rodrigo Castro, Mariangela Torreglosa Ruiz Cintra, and E. C. Pavarino. "O processo de Aconselhamento Genético." Arq Cienc Saude 20, no. 1 (2013): 30-6.» (PDF)

nih.gov

ncbi.nlm.nih.gov

Pina-Neto, João Monteiro de (agosto de 2008). «Genetic counseling». Jornal De Pediatria. 84 (4 Suppl): S20–26. ISSN 1678-4782. PMID 18791650. doi:10.2223/JPED.1782
Gilchrist, Dawna M. (29 de outubro de 2002). «Medical genetics: 3. An approach to the adult with a genetic disorder». CMAJ: Canadian Medical Association journal. 167 (9): 1021–1029. ISSN 0820-3946. PMID 12403743
Smart, Andrew (dezembro de 2010). «Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and Long QT syndrome: a qualitative study of patient experiences». Journal of Genetic Counseling. 19 (6): 630–639. ISSN 1573-3599. PMID 20680418. doi:10.1007/s10897-010-9314-0
Nherera, L.; Marks, D.; Minhas, R.; Thorogood, M.; Humphries, S. E. (julho de 2011). «Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies». Heart (British Cardiac Society). 97 (14): 1175–1181. ISSN 1468-201X. PMID 21685482. doi:10.1136/hrt.2010.213975
Sorensen, Page L.; Gane, Louise W.; Yarborough, Mark; Hagerman, Randi J.; Tassone, Flora (janeiro de 2013). «Newborn screening and cascade testing for FMR1 mutations». American Journal of Medical Genetics. Part A. 161A (1): 59–69. ISSN 1552-4833. PMC 3980469. PMID 23239591. doi:10.1002/ajmg.a.35680
Marsiglia, Júlia Daher Carneiro; Pereira, Alexandre Costa (março de 2014). «Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease?». Arquivos brasileiros de cardiologia. 102 (3): 295–304. ISSN 0066-782X. PMC 3987320. PMID 24714796. doi:10.5935/abc.20140022
Lipman, Peter J.; Yip, Wai-Ki; AlChawa, Taofik; Ludwig, Kerstin U.; Mangold, Elisabeth; Lange, Christoph (dezembro de 2011). «On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium». Genetic Epidemiology. 35 (8): 880–886. ISSN 1098-2272. PMC 4181609. PMID 22125225. doi:10.1002/gepi.20638
Massaro, J. D.; Wiezel, C. E. V.; Muniz, Y. C. N.; Rego, E. M.; de Oliveira, L. C. O.; Mendes-Junior, C. T.; Simões, A. L. (setembro de 2011). «Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population». Haemophilia: The Official Journal of the World Federation of Hemophilia. 17 (5): e936–943. ISSN 1365-2516. PMID 21649803. doi:10.1111/j.1365-2516.2011.02592.x
Pereira, Fernanda dos Santos; Matte, Ursula; Habekost, Clarissa Troller; de Castilhos, Raphael Machado; El Husny, Antonette Souto; Lourenço, Charles Marques; Vianna-Morgante, Angela M.; Giuliani, Liane; Galera, Marcial Francis (2012). «Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy». PloS One. 7 (3): e34195. ISSN 1932-6203. PMC 3315551. PMID 22479560. doi:10.1371/journal.pone.0034195
Phylipsen, Marion; Yamsri, Supawadee; Treffers, Emmely E.; Jansen, Diahann T. S. L.; Kanhai, Warsha A.; Boon, Elles M. J.; Giordano, Piero C.; Fucharoen, Supan; Bakker, Egbert (junho de 2012). «Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis». Prenatal Diagnosis. 32 (6): 578–587. ISSN 1097-0223. PMID 22517437. doi:10.1002/pd.3864
Laurie, A. D.; Hill, A. M.; Harraway, J. R.; Fellowes, A. P.; Phillipson, G. T.; Benny, P. S.; Smith, M. P.; George, P. M. (abril de 2010). «Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches». Journal of thrombosis and haemostasis: JTH. 8 (4): 783–789. ISSN 1538-7836. PMID 20102489. doi:10.1111/j.1538-7836.2010.03768.x
Katsanis, Sara Huston; Katsanis, Nicholas (junho de 2013). «Molecular genetic testing and the future of clinical genomics». Nature reviews. Genetics. 14 (6): 415–426. ISSN 1471-0056. PMC 4461364. PMID 23681062. doi:10.1038/nrg3493
Bakker, Egbert (abril de 2006). «Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed». Clinical Chemistry. 52 (4): 557–558. ISSN 0009-9147. PMID 16595822. doi:10.1373/clinchem.2005.066068
Murphy, Kathleen M.; Berg, Karin D.; Eshleman, James R. (janeiro de 2005). «Sequencing of genomic DNA by combined amplification and cycle sequencing reaction». Clinical Chemistry. 51 (1): 35–39. ISSN 0009-9147. PMID 15514094. doi:10.1373/clinchem.2004.039164
SenGupta, Dhruba J.; Cookson, Brad T. (maio de 2010). «SeqSharp: A general approach for improving cycle-sequencing that facilitates a robust one-step combined amplification and sequencing method». The Journal of molecular diagnostics: JMD. 12 (3): 272–277. ISSN 1943-7811. PMC 2860461. PMID 20203000. doi:10.2353/jmoldx.2010.090134
Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin (fevereiro de 2011). «Noonan syndrome and clinically related disorders». Best Practice & Research. Clinical Endocrinology & Metabolism. 25 (1): 161–179. ISSN 1878-1594. PMC 3058199. PMID 21396583. doi:10.1016/j.beem.2010.09.002
Hageman, Gregory S.; Gehrs, Karen; Lejnine, Serguei; Bansal, Aruna T.; Deangelis, Margaret M.; Guymer, Robyn H.; Baird, Paul N.; Allikmets, Rando; Deciu, Cosmin (julho de 2011). «Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration». Human Genomics. 5 (5): 420–440. ISSN 1479-7364. PMC 3525964. PMID 21807600
Zanke, Brent; Hawken, Steven; Carter, Ronald; Chow, David (fevereiro de 2010). «A genetic approach to stratification of risk for age-related macular degeneration». Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie. 45 (1): 22–27. ISSN 1715-3360. PMID 20130705. doi:10.3129/i09-209
Schaaf, Christian P.; Wiszniewska, Joanna; Beaudet, Arthur L. (2011). «Copy number and SNP arrays in clinical diagnostics». Annual Review of Genomics and Human Genetics. 12: 25–51. ISSN 1545-293X. PMID 21801020. doi:10.1146/annurev-genom-092010-110715
Tiu, Ramon V.; Gondek, Lukasz P.; O'Keefe, Christine L.; Elson, Paul; Huh, Jungwon; Mohamedali, Azim; Kulasekararaj, Austin; Advani, Anjali S.; Paquette, Ronald (28 de abril de 2011). «Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies». Blood. 117 (17): 4552–4560. ISSN 1528-0020. PMC 3099573. PMID 21285439. doi:10.1182/blood-2010-07-295857
Imai, Kenta; Kricka, Larry J.; Fortina, Paolo (março de 2011). «Concordance study of 3 direct-to-consumer genetic-testing services». Clinical Chemistry. 57 (3): 518–521. ISSN 1530-8561. PMID 21159896. doi:10.1373/clinchem.2010.158220
Reid, Robert J.; McBride, Colleen M.; Alford, Sharon Hensley; Price, Cristofer; Baxevanis, Andreas D.; Brody, Lawrence C.; Larson, Eric B. (outubro de 2012). «Association between health-service use and multiplex genetic testing». Genetics in Medicine: Official Journal of the American College of Medical Genetics. 14 (10): 852–859. ISSN 1530-0366. PMC 3424345. PMID 22595941. doi:10.1038/gim.2012.52
Haines, Jonathan L.; Hauser, Michael A.; Schmidt, Silke; Scott, William K.; Olson, Lana M.; Gallins, Paul; Spencer, Kylee L.; Kwan, Shu Ying; Noureddine, Maher (15 de abril de 2005). «Complement factor H variant increases the risk of age-related macular degeneration». Science (New York, N.Y.). 308 (5720): 419–421. ISSN 1095-9203. PMID 15761120. doi:10.1126/science.1110359
Gold, Bert; Merriam, Joanna E.; Zernant, Jana; Hancox, Lisa S.; Taiber, Andrew J.; Gehrs, Karen; Cramer, Kevin; Neel, Julia; Bergeron, Julie (abril de 2006). «Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration». Nature Genetics. 38 (4): 458–462. ISSN 1061-4036. PMC 2921703. PMID 16518403. doi:10.1038/ng1750

oup.com

academic.oup.com

M., Elliott, Perry; Aris, Anastasakis,; A., Borger, Michael; Martin, Borggrefe,; Franco, Cecchi,; Philippe, Charron,; Alain, Hagege, Albert; Antoine, Lafont,; Giuseppe, Limongelli, (29 de agosto de 2014). «2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy». European Heart Journal (em inglês). 35 (39): 2733–2779. ISSN 0195-668X. doi:10.1093/eurheartj/ehu284

scielo.br

Pina-Neto, João Monteiro de (agosto de 2008). «Genetic counseling». Jornal de Pediatria. 84 (4): S20–S26. ISSN 0021-7557. doi:10.1590/S0021-75572008000500004
Melo, Débora Gusmão; Germano, Carla Maria Ramos; Porciúncula, Carlos Guilherme Gaelzer; Paiva, Isaias Soares de; Neri, João Ivanildo da Costa Ferreira; Avó, Lucimar Retto da Silva de; Demarzo, Marcelo Marcos Piva; Galera, Marcial Francis; Melo, Débora Gusmão (2017). «Qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the Brazilian National Health System (SUS)». Interface - Comunicação, Saúde, Educação. 21: 1205–1216. ISSN 1414-3283. doi:10.1590/1807-57622016.0211
Marsiglia, Júlia Daher Carneiro; Pereira, Alexandre Costa (março de 2014). «Cardiomiopatia Hipertrófica: Como as Mutações Levam à Doença?». Arquivos Brasileiros de Cardiologia. 102 (3): 295–304. ISSN 0066-782X. doi:10.5935/abc.20140022

scielosp.org

BRUNONI, Décio. Aconselhamento Genético. Ciênc. saúde coletiva, Rio de Janeiro , v. 7, n. 1, jan. 2002 . Disponível em <http://www.scielosp.org/scielo.php?script=sci_arttext&pid=S1413-81232002000100009&lng=pt&nrm=iso>. acessos em 29 dez. 2014. http://dx.doi.org/10.1590/S1413-81232002000100009.

sciencedirect.com

«Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia». Journal of Clinical Lipidology (em inglês). 5 (3): S1–S8. 1 de junho de 2011. ISSN 1933-2874. doi:10.1016/j.jacl.2011.04.003

worldcat.org

Pina-Neto, João Monteiro de (agosto de 2008). «Genetic counseling». Jornal de Pediatria. 84 (4): S20–S26. ISSN 0021-7557. doi:10.1590/S0021-75572008000500004
Pina-Neto, João Monteiro de (agosto de 2008). «Genetic counseling». Jornal De Pediatria. 84 (4 Suppl): S20–26. ISSN 1678-4782. PMID 18791650. doi:10.2223/JPED.1782
Melo, Débora Gusmão; Germano, Carla Maria Ramos; Porciúncula, Carlos Guilherme Gaelzer; Paiva, Isaias Soares de; Neri, João Ivanildo da Costa Ferreira; Avó, Lucimar Retto da Silva de; Demarzo, Marcelo Marcos Piva; Galera, Marcial Francis; Melo, Débora Gusmão (2017). «Qualification and provision of physicians in the context of the National Policy on Comprehensive Care of People with Rare Diseases in the Brazilian National Health System (SUS)». Interface - Comunicação, Saúde, Educação. 21: 1205–1216. ISSN 1414-3283. doi:10.1590/1807-57622016.0211
Gilchrist, Dawna M. (29 de outubro de 2002). «Medical genetics: 3. An approach to the adult with a genetic disorder». CMAJ: Canadian Medical Association journal. 167 (9): 1021–1029. ISSN 0820-3946. PMID 12403743
Marsiglia, Júlia Daher Carneiro; Pereira, Alexandre Costa (março de 2014). «Cardiomiopatia Hipertrófica: Como as Mutações Levam à Doença?». Arquivos Brasileiros de Cardiologia. 102 (3): 295–304. ISSN 0066-782X. doi:10.5935/abc.20140022
M., Elliott, Perry; Aris, Anastasakis,; A., Borger, Michael; Martin, Borggrefe,; Franco, Cecchi,; Philippe, Charron,; Alain, Hagege, Albert; Antoine, Lafont,; Giuseppe, Limongelli, (29 de agosto de 2014). «2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy». European Heart Journal (em inglês). 35 (39): 2733–2779. ISSN 0195-668X. doi:10.1093/eurheartj/ehu284
Smart, Andrew (dezembro de 2010). «Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and Long QT syndrome: a qualitative study of patient experiences». Journal of Genetic Counseling. 19 (6): 630–639. ISSN 1573-3599. PMID 20680418. doi:10.1007/s10897-010-9314-0
«Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia». Journal of Clinical Lipidology (em inglês). 5 (3): S1–S8. 1 de junho de 2011. ISSN 1933-2874. doi:10.1016/j.jacl.2011.04.003
Nherera, L.; Marks, D.; Minhas, R.; Thorogood, M.; Humphries, S. E. (julho de 2011). «Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies». Heart (British Cardiac Society). 97 (14): 1175–1181. ISSN 1468-201X. PMID 21685482. doi:10.1136/hrt.2010.213975
Sorensen, Page L.; Gane, Louise W.; Yarborough, Mark; Hagerman, Randi J.; Tassone, Flora (janeiro de 2013). «Newborn screening and cascade testing for FMR1 mutations». American Journal of Medical Genetics. Part A. 161A (1): 59–69. ISSN 1552-4833. PMC 3980469. PMID 23239591. doi:10.1002/ajmg.a.35680
Marsiglia, Júlia Daher Carneiro; Pereira, Alexandre Costa (março de 2014). «Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease?». Arquivos brasileiros de cardiologia. 102 (3): 295–304. ISSN 0066-782X. PMC 3987320. PMID 24714796. doi:10.5935/abc.20140022
Lipman, Peter J.; Yip, Wai-Ki; AlChawa, Taofik; Ludwig, Kerstin U.; Mangold, Elisabeth; Lange, Christoph (dezembro de 2011). «On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium». Genetic Epidemiology. 35 (8): 880–886. ISSN 1098-2272. PMC 4181609. PMID 22125225. doi:10.1002/gepi.20638
Massaro, J. D.; Wiezel, C. E. V.; Muniz, Y. C. N.; Rego, E. M.; de Oliveira, L. C. O.; Mendes-Junior, C. T.; Simões, A. L. (setembro de 2011). «Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population». Haemophilia: The Official Journal of the World Federation of Hemophilia. 17 (5): e936–943. ISSN 1365-2516. PMID 21649803. doi:10.1111/j.1365-2516.2011.02592.x
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