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An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.
Quiat D, Kim SW, Zhang Q, Morton SU, Pereira AC, DePalma SR, Willcox JAL, McDonough B, DeLaughter DM, Gorham JM, Curran JJ, Tumblin M, Nicolau Y, Artunduaga MA, Quintanilla-Dieck L, Osorno G, Serrano L, Hamdan U, Eavey RD, Seidman CE, Seidman JG. Quiat D, et al. Among authors: seidman jg, seidman ce. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2203928119. doi: 10.1073/pnas.2203928119. Epub 2022 May 18. Proc Natl Acad Sci U S A. 2022. PMID: 35584116 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.
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.
Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Jarcho JA, et al. Among authors: seidman jg, seidman ce. N Engl J Med. 1989 Nov 16;321(20):1372-8. doi: 10.1056/NEJM198911163212005. N Engl J Med. 1989. PMID: 2811944
514 results