Isabelle Coupry

Isabelle Coupry

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Isabelle Coupry

Isabelle Coupry

Publications by authors named "Isabelle Coupry"

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23Publications

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Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αβ Activation.

Arterioscler Thromb Vasc Biol 2017 06 20;37(6):1087-1097. Epub 2017 Apr 20.

From the INSERM UMR_S 1176, Université Paris-Sud, Université Paris-Saclay, Le Kremlin Bicêtre, France (E.B., F.A., M.L., V.P., O.I., J.-P.R., M.B.); INSERM UMR_S 1211, Université de Bordeaux, CHU Bordeaux UNIV EA 4576, Place Aurélie Raba-Léon, France (P.F., I.C., C.G.); CHU Bordeaux, Centre de Référence Anomalies du Développement Embryonnaire, Service de Génétique Médicale, Hôpital Pellegrin, Place Aurélie Raba-Léon, France (P.F., C.G.); Unité d'Hémostase Biologique, Hospices Civils de Lyon, CBE Bron, EA4609 and CIQLE-Lyon Bio Image, Université Lyon, France (J.-C.B.); Institut Hospitalo-Universitaire LIRYC PTIB, Hôpital Xavier Arnozan, av du Haut Lévêque, Pessac, France (P.N.); and Département de Biochimie et Génétique, INSERM UMR_S 1083 - CNRS 6214, CHU Angers, Angers, France (D.B., E.C.).

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http://dx.doi.org/10.1161/ATVBAHA.117.309337DOI Listing
June 2017

Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.

Eur J Med Genet 2012 May 8;55(5):313-8. Epub 2012 Feb 8.

CHU Bordeaux, Centre de référence des anomalies du développement embryonnaire, Service de Génétique Médicale, Bordeaux, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.018DOI Listing
May 2012

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

Hum Mol Genet 2012 Mar 10;21(5):1004-17. Epub 2011 Nov 10.

INMED, Parc Scientifique de Luminy, Marseille, France; Université de la Mé diterranée, UMR S901 Aix-Marseille 2, Marseille, France; Inserm Unité 901, Marseille, France.

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http://dx.doi.org/10.1093/hmg/ddr531DOI Listing
March 2012

Ophthalmological features associated with COL4A1 mutations.

Arch Ophthalmol 2010 Apr;128(4):483-9

Laboratoire de Génétique Humaine, Université Victor Segalen Bordeaux 2, Université Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1001/archophthalmol.2010.42DOI Listing
April 2010

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.

Eur J Hum Genet 2007 Aug 2;15(8):843-7. Epub 2007 May 2.

Laboratoire de Génétique Humaine, Développement et Cancer (EA 3669), Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201847DOI Listing
August 2007

COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

Ann Neurol 2007 Aug;62(2):177-84

Centre Hospitalier Universitaire Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, Bordeaux, France.

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http://doi.wiley.com/10.1002/ana.21191
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http://dx.doi.org/10.1002/ana.21191DOI Listing
August 2007

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Eur J Hum Genet 2004 Mar;12(3):245-50

Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, F-33076, Bordeaux, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201128DOI Listing
March 2004

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.

Hum Mutat 2004 Mar;23(3):278-84

Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen Bordeaux 2, Bordeaux, France.

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http://dx.doi.org/10.1002/humu.20001DOI Listing
March 2004