Laurence Faivre - Dissemin

Papers authored by Laurence Faivre

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2010 Salima El Chehadeh, Salima El Chehadeh, Bernard Aral, Nadège Gigot, Christel Thauvin-Robinet, Anne Donzel, Marie-Ange Delrue, Didier Lacombe, Albert David, Anne Moncla, Lydie Burglen, Nicole Philip, Valérie Cormier-Daire

, Marlène Rio, Patrick Edery and 18 other authors

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

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C. Stheneur, L. Faivre

, B. Chevallier, G. Jondeau, C. Boileau

CL016 - Facteurs pronostiques dans les formes sévères du syndrome de Marfan

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This paper is made freely available by the publisher.

Delphine Detaint, Philippe Aegerter

, Florence Tubach, Isabelle Hoffman, Henri Plauchu, Yves Dulac, Laurence Olivier Faivre

, Marie-Ange Delrue, Maria Tchitchinadze, Patrick Collignon, Catherine Bouffard, Florence Arnoult, Sylvie Odent, Mathieu Gautier, Catherine Boileau and 1 other authors

Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome.

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Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Anne Child, Gwenaelle Collod-Beroud, Anne De Paepe, Jörg Epplen, Guillaume Jondeau, Bart Loeys, Laurence Faivre

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

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D. Detaint, P. Aegerter, F. Tubach, I. Hoffman, H. Plauchu, Y. Dulac, Lo Faivre

, Delrue, P. Collignon, S. Odent

Etude randomisee> comparant un antagoniste de l'angiotensine II au placebo chez des patients presentant un syndrome de Marfan

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Mohamed-Yassine Amarouch, Samuel Saal, Géraldine Bertaux, Laurence Faivre

, Isabelle Baró, Florence Kyndt, Gildas Loussouarn, Gabriel Laurent

Mutation of Cardiac Nav1. 5 in an Hisian-Type Arrhythmia, Associated with Dilated Cardiomayopathy

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Philippe Latour, Christel Thauvin-Robinet, Chantal Baudelet-Méry, Pierre Soichot, Veronica Cusin, Laurence Faivre

, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William Camu, Albert David, Robert Rousson

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

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David Attias, A. Vahanian, Chantal Stheneur, Carine Roy, L. Faivre

, Gwenaelle Collod-Beroud, Delphine Detaint, M. A. Delrue, H. Plauchu, Mireille Claustres, S. Lyonnet, Catherine Boileau, Guillaume Jondeau

314 Outcomes and prognosis in patient with TGFBR2 or FBN1 gene mutation

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Laurence Faivre

, Philippe Khau Van Kien, Patrick Callier, Nathalie Ruiz-Pallares, Corinne Baudoin, Aurélie Plancke, Jean-Eric Wolf, Christel Thauvin-Robinet, Edith Durand, Delphine Minot

De novo 15q21. 1q21. 2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

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A. Orrico, L. Galli, L. Faivre

, J. Clayton-Smith, Sm Azzarello-Burri, Jm M. Hertz, S. Jacquemont, T. Thelle, R. Taurisano, I. Arroyo Carrera, K. Devriendt, E. Tarantino, D. Melis, U. Meinhardt, V. Sorrentino

Aarskog--Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene

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Bart L. Loeys, Harry C. Dietz, Alan C. Braverman, Bert L. Callewaert, Julie De Backer, Richard B. Devereux, Yvonne Hilhorst-Hofstee, Guillaume Jondeau, Laurence Faivre

, Dianna M. Milewicz

The revised Ghent nosology for the Marfan syndrome

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G. Laurent, S. Saal, My Amarouch, L. Faivre

, P. Charron, E. Baron, Jj Schott, F. Kyndt, Probst, Je Wolf

SCN5A mutation associated with a novel cardiac arrhythmia disorder involving the left fascicular-Purkinje system associated with dilated cardiomyopathy

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Gabriel Laurent, Samuel Saal, Mohamed Yassine Amarouch, Laurence Faivre

, Christel Thauvin-Robinet, Philippe Charron, Pascale Richard, Vincent Probst, Estelle Baron, Isabelle Baro

Multifocal Ectopic Purkinje Tachycardia: A New Familial Syndrome.

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Delphine Detaint, Laurence Faivre

, Gwenaelle Collod-Beroud, Anne H. Child, Bart L. Loeys, Christine Binquet, Elodie Gautier, Chantal Stheneur, Eloisa Arbustini, Karin Mayer, Dorothy Halliday, Henri Plauchu, Mine Arslan-Kirchner, Christophe Beroud, Peter N. Robinson

and 9 other authors

Cardiovascular manifestations in men and women carrying a FBN1 mutation

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2009 Philippe Khau Van Kien, David Attias, Chantal Stheneur, Martine Le Merrer, Carine Roy, Gwenaëlle Collod-Beroud, Delphine Detaint, Laurence Faivre

, Marie-Ange Delrue, Laurence Cohen, Christine Francannet, Franck Iserin, Christophe Beroud, Philippe Khau Van Kien, Mireille Claustres and 14 other authors

Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.

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Ozmert M. A. Ozdemir, Ilknur Kiliç, Tamer Ozsari, B. Alper Kiliç, B. Alper Kilic, Laurence Faivre

, Bernard Aral, Dolunay Gürses, C. Nur Semerci

Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: Both phenotypes in the same family

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P. Callier, L. Faivre

, S. Pigeonnat, B. Quilichini, N. Marle, C. Thauvin-Robinet, Al L. Mosca, A. Masurel-Paulet, T. Rousseau, N. Laurent, P. Sagot, F. Mugneret

Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20

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Véronique Darmency, Thierry Rousseau, Christel Thauvin-Robinet, Nathalie Mejean, Ségolène Charra, Fanny Coron, Cécile Cassini, Frédéric Huet, Martine Le Merrer, Nicole Laurent, Valérie Cormier-Daire

, Paul Sagot, Laurence Faivre

Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)

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Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre

, Jean François Buyck, Laurent Gouya, Jean-Marie Le Parc, Jean-Marie Le Parc, Bertrand Moura, Christine Muti, Bernard Grandchamp, Mireille Claustres, Gilles Sultan, Philippe Aegerter

, Bertrand Chevallier, Guillaume Jondeau and 1 other authors

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

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Estelle Gandjbakhch, Véronique Fressart, Géraldine Bertaux, Laurence Faivre

, Françoise Simon, Robert Frank, Guy Fontaine, Eric Villard, Catherine Coirault, Bernard Hainque, Philippe Charron

Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation

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Papers authored by Laurence Faivre