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Items: 10

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.

Eur Heart J. 2019 May 21. pii: ehz308. doi: 10.1093/eurheartj/ehz308. [Epub ahead of print]

PMID:
31114854
2.

Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.

Bourcier R, Le Scouarnec S, Bonnaud S, Karakachoff M, Bourcereau E, Heurtebise-Chrétien S, Menguy C, Dina C, Simonet F, Moles A, Lenoble C, Lindenbaum P, Chatel S, Isidor B, Génin E, Deleuze JF, Schott JJ, Le Marec H; ICAN Study Group, Loirand G, Desal H, Redon R.

Am J Hum Genet. 2018 Jan 4;102(1):133-141. doi: 10.1016/j.ajhg.2017.12.006.

3.

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ.

Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505.

4.

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease.

Persyn E, Karakachoff M, Le Scouarnec S, Le Clézio C, Campion D, Consortium FE, Schott JJ, Redon R, Bellanger L, Dina C.

PLoS One. 2017 Jul 24;12(7):e0179364. doi: 10.1371/journal.pone.0179364. eCollection 2017.

5.

An Overlap Syndrome involving systemic lupus erythematosus and autoimmune hepatitis in an adolescent girl.

Battagliotti C, Rispolo Klubek D, Karakachoff M, Costaguta A.

Arch Argent Pediatr. 2016 Jun 1;114(3):e155-8. doi: 10.5546/aap.2016.eng.e155. Epub 2016 Jun 1. English, Spanish.

6.

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.

Hum Mol Genet. 2015 May 15;24(10):2757-63. doi: 10.1093/hmg/ddv036. Epub 2015 Feb 3.

PMID:
25650408
7.

Fine-scale human genetic structure in Western France.

Karakachoff M, Duforet-Frebourg N, Simonet F, Le Scouarnec S, Pellen N, Lecointe S, Charpentier E, Gros F, Cauchi S, Froguel P, Copin N; D.E.S.I.R. Study Group, Le Tourneau T, Probst V, Le Marec H, Molinaro S, Balkau B, Redon R, Schott JJ, Blum MG, Dina C; D E S I R Study Group.

Eur J Hum Genet. 2015 Jun;23(6):831-6. doi: 10.1038/ejhg.2014.175. Epub 2014 Sep 3.

8.

The effects of the macro-environment on treatment retention for problem cocaine users.

Lorenzoni V, Curzio O, Karakachoff M, Saponaro A, Sanza M, Mariani F, Molinaro S.

Int J Drug Policy. 2013 Jan;24(1):52-9. doi: 10.1016/j.drugpo.2012.07.001. Epub 2012 Aug 11.

PMID:
22884542
9.

Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach.

Gourraud JB, Kyndt F, Fouchard S, Rendu E, Jaafar P, Gully C, Gacem K, Dupuis JM, Longueville A, Baron E, Karakachoff M, Cebron JP, Chatel S, Schott JJ, Le Marec H, Probst V.

Heart. 2012 Sep;98(17):1305-10. doi: 10.1136/heartjnl-2012-301872. Epub 2012 Jun 19.

PMID:
22717692
10.

[Validation of a method to predict the etiology of pneumonia in children].

Karakachoff M, Battagliotti C, Maciel J, Gamba N.

Arch Argent Pediatr. 2008 Apr;106(2):126-31. doi: 10.1590/S0325-00752008000200006. Spanish.

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