Gouas L - Search Results

1

A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.

Keller DI, Barrane FZ, Gouas L, Martin J, Pilote S, Suarez V, Osswald S, Brink M, Guicheney P, Schwick N, Chahine M. Keller DI, et al. Among authors: gouas l. Can J Cardiol. 2005 Sep;21(11):925-31. Can J Cardiol. 2005. PMID: 16239976

2

The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.

Six I, Hermida JS, Huang H, Gouas L, Fressart V, Benammar N, Hainque B, Denjoy I, Chahine M, Guicheney P. Six I, et al. Among authors: gouas l. Europace. 2008 Jan;10(1):79-85. doi: 10.1093/europace/eum271. Epub 2007 Dec 21. Europace. 2008. PMID: 18156160

3

New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.

Gouas L, Bellocq C, Berthet M, Potet F, Demolombe S, Forhan A, Lescasse R, Simon F, Balkau B, Denjoy I, Hainque B, Baró I, Guicheney P; D.E.S.I.R. Study Group. Gouas L, et al. Cardiovasc Res. 2004 Jul 1;63(1):60-8. doi: 10.1016/j.cardiores.2004.02.011. Cardiovasc Res. 2004. PMID: 15194462

4

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P; D.E.S.I.R. Study Group. Gouas L, et al. Eur J Hum Genet. 2005 Nov;13(11):1213-22. doi: 10.1038/sj.ejhg.5201489. Eur J Hum Genet. 2005. PMID: 16132053

5

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: gouas l. 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

6

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.

Gouas L, Nicaud V, Chaouch S, Berthet M, Forhan A, Tichet J, Tiret L, Balkau B, Guicheney P. Gouas L, et al. Eur J Hum Genet. 2007 Sep;15(9):974-9. doi: 10.1038/sj.ejhg.5201866. Epub 2007 May 30. Eur J Hum Genet. 2007. PMID: 17534376 Free PMC article.

7

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L. Juven A, et al. Among authors: gouas l. Eur J Hum Genet. 2020 Aug;28(8):1044-1055. doi: 10.1038/s41431-020-0582-3. Epub 2020 Feb 18. Eur J Hum Genet. 2020. PMID: 32071410 Free PMC article. Review.

8

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.

Pebrel-Richard C, Debost-Legrand A, Eymard-Pierre E, Greze V, Kemeny S, Gay-Bellile M, Gouas L, Tchirkov A, Vago P, Goumy C, Francannet C. Pebrel-Richard C, et al. Among authors: gouas l. Eur J Hum Genet. 2014 Mar;22(3):369-73. doi: 10.1038/ejhg.2013.141. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860047 Free PMC article.

9

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P. Kemeny S, et al. Among authors: gouas l. Eur J Med Genet. 2014 Oct;57(10):552-7. doi: 10.1016/j.ejmg.2014.07.003. Epub 2014 Aug 6. Eur J Med Genet. 2014. PMID: 25106685

10

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, Tchirkov A, Goumy C, Vago P. Pebrel-Richard C, et al. Among authors: gouas l. Eur J Med Genet. 2012 Nov;55(11):650-5. doi: 10.1016/j.ejmg.2012.06.014. Epub 2012 Jul 14. Eur J Med Genet. 2012. PMID: 22796526

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