Results 1 -
10
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47
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Hypertrophic cardiomyopathy 18
- ... HYPERTROPHIC, 15; CMH15 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18; CMH18 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20; CMH20 CARDIOMYOPATHY, FAMILIAL ...
- ... MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Cardiomyopathy Overview. 2005 Apr 18 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. ... cardiomyopathy: molecular genetics into clinical practice in the era ...
- ... mutation p.K217del in troponin T2, causing dilated cardiomyopathy. Neth Heart J. 2010 Oct;18(10):478-85. doi: 10.1007/BF03091819. Citation on PubMed or Free article on PubMed Central Rodriguez JE, McCudden ... cardiomyopathy: basic concepts and future molecular diagnostics. Clin Biochem. ...
- ... Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun. 2002 Oct 18;298(1):116-20. doi: 10.1016/s0006-291x(02)02374-4. Citation on PubMed Dong X, Fan P, Tian T, Yang ... ventricular noncompaction cardiomyopathy. Clin Chim Acta. 2017 Feb;465:40-44. ...
- ... not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet. 2010 Jul;18(7):776-82. doi: 10.1038/ejhg.2010.19. Epub 2010 Mar 3. Citation on PubMed or Free article on PubMed Central ... cardiomyopathy caused by desmocollin-2 mutations. Cardiovasc Res. 2011 ...
- ... disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18. ...
- ... disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18. ...
- ... adulthood, often because of complications related to dilated cardiomyopathy, and some do not survive past infancy. DOLK-CDG is likely a rare condition; at least 18 cases have been reported in the scientific literature. ...
- ... single evolutionary origin as a risk factor for cardiomyopathy. Am J Hum Genet. 2000 Dec;67(6):1617-20. doi: 10.1086/316896. Epub 2000 Oct 18. Citation on PubMed or Free article on PubMed ...
- ... sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 2009 Oct;17(10):1241-9. doi: 10.1038/ejhg.2009.34. Epub 2009 Mar 18. Citation on PubMed or Free article on PubMed ...