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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. Greenway SC, et al. Among authors: seidman jg, seidman ce. Nat Genet. 2009 Aug;41(8):931-5. doi: 10.1038/ng.415. Epub 2009 Jul 13. Nat Genet. 2009. PMID: 19597493 Free PMC article.
Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.
Watkins H, Thierfelder L, Hwang DS, McKenna W, Seidman JG, Seidman CE. Watkins H, et al. Among authors: seidman jg, seidman ce. J Clin Invest. 1992 Nov;90(5):1666-71. doi: 10.1172/JCI116038. J Clin Invest. 1992. PMID: 1430197 Free PMC article.
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.
Solomon SD, Jarcho JA, McKenna W, Geisterfer-Lowrance A, Germain R, Salerni R, Seidman JG, Seidman CE. Solomon SD, et al. Among authors: seidman jg, seidman ce. J Clin Invest. 1990 Sep;86(3):993-9. doi: 10.1172/JCI114802. J Clin Invest. 1990. PMID: 1975599 Free PMC article.
515 results