Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lisa C. A. D'Alessandro"'
Autor:
Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, Christine Eng, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, John W. Belmont
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-10 (2017)
Abstract Background Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several div
Externí odkaz:
https://doaj.org/article/1959731fdcb748ae9e55ad3d875f098c
Autor:
Lisa C A, D'Alessandro, Petra, Werner, Hongbo M, Xie, Hakon, Hakonarson, Peter S, White, Elizabeth, Goldmuntz
Publikováno v:
Congenital heart disease. 9(1)
Left-sided cardiac lesions have a birth prevalence of approximately 1 in 1000 and have been shown to be heritable in pedigree studies. A large microdeletion at 16p12.1 is associated with childhood developmental delay, and initial studies describing t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cef71667fff3902d2b849d0dab172d6d
https://pubmed.ncbi.nlm.nih.gov/23682798
https://pubmed.ncbi.nlm.nih.gov/23682798