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Page 1
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.
Belbachir N, Portero V, Al Sayed ZR, Gourraud JB, Dilasser F, Jesel L, Guo H, Wu H, Gaborit N, Guilluy C, Girardeau A, Bonnaud S, Simonet F, Karakachoff M, Pattier S, Scott C, Burel S, Marionneau C, Chariau C, Gaignerie A, David L, Genin E, Deleuze JF, Dina C, Sauzeau V, Loirand G, Baró I, Schott JJ, Probst V, Wu JC, Redon R, Charpentier F, Le Scouarnec S. Belbachir N, et al. Among authors: le scouarnec s. Eur Heart J. 2019 Oct 1;40(37):3081-3094. doi: 10.1093/eurheartj/ehz308. Eur Heart J. 2019. PMID: 31114854 Free PMC article.
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: le scouarnec s. Circulation. 2007 Jan 30;115(4):432-41. doi: 10.1161/CIRCULATIONAHA.106.656512. Epub 2007 Jan 22. Circulation. 2007. PMID: 17242276
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR. Watanabe H, et al. Among authors: le scouarnec s. J Clin Invest. 2008 Jun;118(6):2260-8. doi: 10.1172/JCI33891. J Clin Invest. 2008. PMID: 18464934 Free PMC article.
Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.
Le Scouarnec S, Bhasin N, Vieyres C, Hund TJ, Cunha SR, Koval O, Marionneau C, Chen B, Wu Y, Demolombe S, Song LS, Le Marec H, Probst V, Schott JJ, Anderson ME, Mohler PJ. Le Scouarnec S, et al. Among authors: le marec h. Proc Natl Acad Sci U S A. 2008 Oct 7;105(40):15617-22. doi: 10.1073/pnas.0805500105. Epub 2008 Oct 1. Proc Natl Acad Sci U S A. 2008. PMID: 18832177 Free PMC article.
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.
Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, Albuisson J, Meregalli PG, Le Marec H, Tan HL, Schott JJ. Probst V, et al. Among authors: le scouarnec s, le marec h, le caignec c. Circ Cardiovasc Genet. 2009 Dec;2(6):552-7. doi: 10.1161/CIRCGENETICS.109.853374. Epub 2009 Sep 29. Circ Cardiovasc Genet. 2009. PMID: 20031634
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: le scouarnec s, le marec h. PLoS One. 2010 Feb 19;5(2):e9298. doi: 10.1371/journal.pone.0009298. PLoS One. 2010. PMID: 20174578 Free PMC article.
aCGH.Spline--an R package for aCGH dye bias normalization.
Fitzgerald TW, Larcombe LD, Le Scouarnec S, Clayton S, Rajan D, Carter NP, Redon R. Fitzgerald TW, et al. Among authors: le scouarnec s. Bioinformatics. 2011 May 1;27(9):1195-200. doi: 10.1093/bioinformatics/btr107. Epub 2011 Feb 25. Bioinformatics. 2011. PMID: 21357574 Free PMC article.
36 results