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Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Baurand A, et al. Among authors: gourraud jb. Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868338 Review.
Rapid ventricular tachycardia in patients with tetralogy of Fallot and implantable cardioverter-defibrillator: Insights from the DAI-T4F nationwide registry.
Laredo M, Duthoit G, Sacher F, Anselme F, Audinet C, Bessière F, Bordachar P, Bouzeman A, Boveda S, Bun SS, Chassignolle M, Clerici G, Da Costa A, de Guillebon M, Defaye P, Elbaz N, Eschalier R, Extramiana F, Fauchier L, Hermida A, Gandjbakhch E, Garcia R, Gourraud JB, Guenancia C, Guy-Moyat B, Irles D, Iserin L, Jourda F, Koutbi L, Labombarda F, Ladouceur M, Lagrange P, Lellouche N, Mansourati J, Marquié C, Martins R, Massoulié G, Mathiron A, Maury P, Messali A, Milhem A, Mondoly P, Nguyen C, Ninni S, Pasquié JL, Pierre B, Pujadas P, Sellal JM, Thambo JB, Walton C, Winum P, Zakine C, Zhao A, Jouven X, Combes N, Marijon E, Waldmann V; DAI-T4F Investigators. Laredo M, et al. Among authors: gourraud jb. Heart Rhythm. 2023 Feb;20(2):252-260. doi: 10.1016/j.hrthm.2022.10.016. Epub 2022 Oct 26. Heart Rhythm. 2023. PMID: 36309156 Free article.
Identification of large families in early repolarization syndrome.
Gourraud JB, Le Scouarnec S, Sacher F, Chatel S, Derval N, Portero V, Chavernac P, Sandoval JE, Mabo P, Redon R, Schott JJ, Le Marec H, Haïssaguerre M, Probst V. Gourraud JB, et al. J Am Coll Cardiol. 2013 Jan 15;61(2):164-72. doi: 10.1016/j.jacc.2012.09.040. J Am Coll Cardiol. 2013. PMID: 23273290 Free article.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. Bezzina CR, et al. Among authors: gourraud jb. Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872634 Free PMC article.
Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
Béziau DM, Barc J, O'Hara T, Le Gloan L, Amarouch MY, Solnon A, Pavin D, Lecointe S, Bouillet P, Gourraud JB, Guicheney P, Denjoy I, Redon R, Mabo P, le Marec H, Loussouarn G, Kyndt F, Schott JJ, Probst V, Baró I. Béziau DM, et al. Among authors: gourraud jb. Basic Res Cardiol. 2014;109(6):446. doi: 10.1007/s00395-014-0446-5. Epub 2014 Oct 24. Basic Res Cardiol. 2014. PMID: 25341504
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Le Scouarnec S, Karakachoff M, Gourraud JB, Lindenbaum P, Bonnaud S, Portero V, Duboscq-Bidot L, Daumy X, Simonet F, Teusan R, Baron E, Violleau J, Persyn E, Bellanger L, Barc J, Chatel S, Martins R, Mabo P, Sacher F, Haïssaguerre M, Kyndt F, Schmitt S, Bézieau S, Le Marec H, Dina C, Schott JJ, Probst V, Redon R. Le Scouarnec S, et al. Among authors: gourraud jb. Hum Mol Genet. 2015 May 15;24(10):2757-63. doi: 10.1093/hmg/ddv036. Epub 2015 Feb 3. Hum Mol Genet. 2015. PMID: 25650408
Quinidine in Brugada Syndrome: Still a Long Way to Go….
Probst V, Gourraud JB. Probst V, et al. Among authors: gourraud jb. Circ Arrhythm Electrophysiol. 2015 Dec;8(6):1309-10. doi: 10.1161/CIRCEP.115.003576. Circ Arrhythm Electrophysiol. 2015. PMID: 26671933 No abstract available.
91 results