Publications by authors named "Chaix Charlene"

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SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Laurène Gérard, Mégane Delourme, Charlotte Tardy, Benjamin Ganne, Pierre Perrin, Charlene Chaix

Eur J Hum Genet· June 2025

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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

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, Charlene Chaix

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

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

Am J Med Genet A· August 2018

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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Patrice Bourgeois, Clothilde Esteve, Charlène Chaix, Christophe Béroud, Nicolas Lévy

Hum Mutat· June 2018

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A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Alexandre Fabre, Laetitia-Marie Petit, Lars F Hansen, Anne V Wewer, Clothilde Esteve

Am J Med Genet A· March 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

Hum Mutat· October 2017

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Molecular combing: A new tool in diagnosing leukemia.
Antoine Ittel, Hélène Zattara, Charlène Chaix, Gérard Michel, Nicolas Levy

Cancer Biomark· March 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, Charlene Chaix

BMC Med Genet· September 2016

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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, Charlene Chaix

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

Ann Neurol· October 2011

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