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Primary cilia defects causing mitral valve prolapse.
Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA. Toomer KA, et al. Among authors: le scouarnec s. Sci Transl Med. 2019 May 22;11(493):eaax0290. doi: 10.1126/scitranslmed.aax0290. Sci Transl Med. 2019. PMID: 31118289 Free PMC 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. Among authors: le scouarnec s, le marec h. 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.
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: le marec h. 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
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I.
Daumy X, Amarouch MY, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, Nafzger S, Baron E, Fouchard S, Thollet A, Kyndt F, Barc J, Le Scouarnec S, Makita N, Le Marec H, Dina C, Gourraud JB, Probst V, Abriel H, Redon R, Schott JJ. Daumy X, et al. Among authors: le scouarnec s, le marec h. Int J Cardiol. 2016 Mar 15;207:349-58. doi: 10.1016/j.ijcard.2016.01.052. Epub 2016 Jan 11. Int J Cardiol. 2016. PMID: 26820365
The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.
Gourraud JB, Barc J, Thollet A, Le Scouarnec S, Le Marec H, Schott JJ, Redon R, Probst V. Gourraud JB, et al. Among authors: le scouarnec s, le marec h. Front Cardiovasc Med. 2016 Apr 25;3:9. doi: 10.3389/fcvm.2016.00009. eCollection 2016. Front Cardiovasc Med. 2016. PMID: 27200363 Free PMC article. Review.
Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome.
Portero V, Le Scouarnec S, Es-Salah-Lamoureux Z, Burel S, Gourraud JB, Bonnaud S, Lindenbaum P, Simonet F, Violleau J, Baron E, Moreau E, Scott C, Chatel S, Loussouarn G, O'Hara T, Mabo P, Dina C, Le Marec H, Schott JJ, Probst V, Baró I, Marionneau C, Charpentier F, Redon R. Portero V, et al. Among authors: le scouarnec s, le marec h. J Am Heart Assoc. 2016 Jun 10;5(6):e003122. doi: 10.1161/JAHA.115.003122. J Am Heart Assoc. 2016. PMID: 27287695 Free PMC article.
37 results