, Curr Neurol Neurosci Rep, vol.16, p.66, 2016.
Population-based incidence and prevalence of facioscapulohumeral dystrophy, Neurology, vol.83, pp.1056-1059, 2014. ,
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium, Am J Hum Genet, vol.51, pp.396-403, 1992. ,
The mapping of chromosome 4q markers in relation to Facioscapulohumeral Muscular Dystrophy (FSHD), Am J Hum Genet, vol.51, pp.404-410, 1992. ,
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10, Am J Hum Genet, vol.2, pp.26-35, 1992. ,
The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes, Genomics, vol.28, pp.389-397, 1995. ,
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy, Nat Genet, vol.35, pp.315-317, 2003. ,
Clinical features of facioscapulohumeral muscular dystrophy 2, Neurology, vol.75, pp.1548-1554, 2010. ,
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers, Neurology, vol.83, pp.733-742, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-01610019
A focal domain of extreme demethylation within D4Z4 in FSHD2, Neurology, vol.80, pp.392-399, 2013. ,
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report, BMC Med Genet, vol.17, p.66, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01378417
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2, Nat Genet, vol.44, pp.1370-1374, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00770764
An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse, Proc Natl Acad Sci, vol.102, pp.7629-7634, 2005. ,
Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy, Ann Neurol, vol.70, pp.627-633, 2011. ,
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy, J Med Genet, vol.56, pp.590-601, 2019. ,
URL : https://hal.archives-ouvertes.fr/hal-02140159
A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands, Proc Natl Acad Sci, vol.89, pp.1827-1831, 1992. ,
BiQ Analyzer: visualization and quality control for DNA methylation data from bisulfite sequencing, Bioinformatics, vol.21, pp.4067-4068, 2005. ,
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD), PLoS Genet, vol.5, p.1000559, 2009. ,
The evolutionary dynamics of repetitive DNA in eukaryotes, Nature, vol.371, pp.215-220, 1994. ,
Repetitive sequences in complex genomes: structure and evolution, Annu Rev Genomics Hum Genet, vol.8, pp.241-259, 2007. ,
Large-scale structure of genomic methylation patterns, Genome Res, vol.16, pp.157-163, 2006. ,
Chromosomal instability and tumors promoted by DNA hypomethylation, Science, vol.300, p.455, 2003. ,
Comparison of methods for quantification of global DNA methylation in human cells and tissues, PLoS One, vol.8, p.79044, 2013. ,
Global analysis of DNA methylation and transcription of human repetitive sequences, Epigenetics, vol.4, pp.339-350, 2009. ,
URL : https://hal.archives-ouvertes.fr/hal-00851248
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite, Nucleic Acids Res, vol.47, pp.2822-2839, 2019. ,
URL : https://hal.archives-ouvertes.fr/hal-02002680
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing, Clin Epigenetics, vol.6, p.23, 2014. ,
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy, Clin Epigenetics, vol.7, p.37, 2015. ,
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2, J Med Genet, vol.53, pp.348-355, 2016. ,
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2, Hum Mol Genet, vol.24, pp.659-669, 2015. ,
The alternative role of DNA methylation in splicing regulation, Trends Genet, vol.31, pp.274-280, 2015. ,
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity, J Med Genet, vol.49, pp.41-46, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-00638895
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy, Ann Neurol, vol.58, pp.569-576, 2005. ,
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD, Hum Mutat, vol.30, pp.1449-1459, 2009. ,
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development, Nat Genet, vol.49, pp.249-255, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01617529
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome, Nat Genet, vol.49, pp.238-248, 2017. ,
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy, Hum Mutat, vol.38, pp.1432-1441, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01614514