Charlene Chaix
Marseille, France
Last Updated: 09/26/2026
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Found 11 publications
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Journal: European journal of human genetics : EJHG
Published: January 20, 2024
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Journal: Neurology. Genetics
Published: February 07, 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Journal: Journal of medical genetics
Published: December 17, 2018
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Journal: Human mutation
Published: November 21, 2017
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.
Journal: American journal of medical genetics. Part A
Published: July 25, 2017
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.
Journal: American journal of medical genetics. Part A
Published: June 13, 2017
Molecular combing: A new tool in diagnosing leukemia.
Journal: Cancer biomarkers : section A of Disease markers
Published: November 02, 2016
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Journal: Human mutation
Published: March 20, 2016
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
Journal: BMC medical genetics
Published: February 09, 2016
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers.
Journal: Neurology
Published: July 18, 2014
Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy.
Journal: Annals of neurology
Published: October 27, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026