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Cardiac conduction defects associate with mutations in SCN5A.
Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H. Schott JJ, et al. Among authors: escande d. Nat Genet. 1999 Sep;23(1):20-1. doi: 10.1038/12618. Nat Genet. 1999. PMID: 10471492 No abstract available.
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes.
Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM. Mohler PJ, et al. Among authors: escande d. Circulation. 2007 Jan 30;115(4):432-41. doi: 10.1161/CIRCULATIONAHA.106.656512. Epub 2007 Jan 22. Circulation. 2007. PMID: 17242276
Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model.
Leoni AL, Gavillet B, Rougier JS, Marionneau C, Probst V, Le Scouarnec S, Schott JJ, Demolombe S, Bruneval P, Huang CL, Colledge WH, Grace AA, Le Marec H, Wilde AA, Mohler PJ, Escande D, Abriel H, Charpentier F. Leoni AL, et al. Among authors: escande d. PLoS One. 2010 Feb 19;5(2):e9298. doi: 10.1371/journal.pone.0009298. PLoS One. 2010. PMID: 20174578 Free PMC article.
141 results