Publications by authors named "Catherine Vovan"

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Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.
Megane Delourme, Chaix Charlene, Laurene Gerard, Benjamin Ganne, Pierre Perrin, Catherine Vovan

Neurol Genet· June 2023

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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Stéphane Roche, Camille Dion, Natacha Broucqsault, Camille Laberthonnière, Marie-Cécile Gaillard, Catherine Vovan

Neurol Genet· December 2019

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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Karine Nguyen, Natacha Broucqsault, Charlene Chaix, Stephane Roche, Jérôme D Robin, Catherine Vovan

J Med Genet· September 2019

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Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Dimitri Renard, Guillaume Taieb, Matteo Garibaldi, Andre Maues De Paula, Rafaelle Bernard, Catherine Vovan

Am J Med Genet A· August 2018

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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlène Chaix, Catherine Vovan

Hum Mutat· October 2017

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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort Campana, Catherine Vovan

BMC Med Genet· September 2016

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Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype.
Francesca Puppo, Eugenie Dionnet, Marie-Cécile Gaillard, Pascaline Gaildrat, Christel Castro, Catherine Vovan

Hum Mutat· April 2015

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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
Marie-Cécile Gaillard, Stéphane Roche, Camille Dion, Armand Tasmadjian, Gwenaëlle Bouget, Catherine Vovan

Neurology· August 2014

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Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.
Karine Nguyen, Pierre Walrafen, Rafaëlle Bernard, Shahram Attarian, Charlène Chaix, Catherine Vovan

Ann Neurol· October 2011

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New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
Mouna Barat-Houari, Karine Nguyen, Rafaëlle Bernard, Céline Fernandez, Catherine Vovan

Eur J Hum Genet· May 2010

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