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gène SMCHD1
Commentaire :
Sur le chromosome 18.
Synonyme(s)structural maintenance of chromosomes flexible hinge domain containing 1 |
Documents disponibles dans cette catégorie (23)
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Monosomy 18p is a risk factor for facioscapulohumeral dystrophy
Balog J, Goossens R, Lemmers RJLF, et al.
Journal of medical genetics, 2018
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model
de Greef JC, Krom YD, den Hamer B, et al.
Human molecular genetics, 2018, 27, 4, p 716
Facioscapulohumeral Muscular Dystrophy
DeSimone AM, Pakula A, Lek A, et al.
Comprehensive Physiology, 2017, 7, 4, p 1229
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
Nguyen K, Puppo F, Roche S, et al.
Human mutation, 2017, 38, 10, p 1432
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Shaw ND, Brand H, Kupchinsky ZA, et al.
Nature genetics, 2017, 49, 2, p 238
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes
Mason AG, Slieker RC, Balog J, et al.
Skeletal Muscle, 2017, 7, 1
The Epigenetic Regulator SMCHD1 in Development and Disease
Jansz N, Chen K, Murphy JM, et al.
Trends in genetics : TIG, 2017, 33, 4, p 233
Myology 2016 : 5th International Congress of Myology ; Posters n° 157 to 173 - Facioscapulohumeral dystrophy (FSHD1, FSHD2)
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 97-107
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report
Gaillard MC, Puppo F, Roche S, et al.
BMC Medical Genetics, 2016, 17, 1
Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy
Mul K, van den Boogaard ML, van der Maarel SM, et al.
Current opinion in neurology, 2016, 29, 5, p 606
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations
Hamanaka K, Goto K, Arai M, et al.
Neuromuscular disorders : NMD, 2016, 26, 4-5, p 300
Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4
Balog J, Thijssen PE, Shadle S, et al.
Epigenetics, 2015, 10, 12, p 1133
Dystrophie musculaire facio-scapulo-humérale de type 2
Sacconi S, Desnuelle C
Les Cahiers de Myologie, 2014, 10, p. 5-10
Clinical trial preparedness in facioscapulohumeral dystrophy : outcome measures and patient access. 8-9 April 2013, The Netherlands
Tawil R, Shaw DW, van der Maarel SM, et al.
Congrès : Clinical trial preparedness in facioscapulohumeral dystrophy : Outcome measures and patient access (8-9 April 2013; Leiden, The Nethelands)
Neuromuscular disorders : NMD, 2014, 24, 1, p. 79-85
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
Sacconi S, Lemmers RJLF, Balog J, et al.
American journal of human genetics (The), 2013, 93, 4, p. 744-751
Wnt/beta-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells
Block GJ, Narayanan D, Amell AM, et al.
Human molecular genetics, 2013, 22, 23, p. 4661-4672
Pathologies musculaires. La FSH en tête
Folgoas E, Pereon Y
Congrès : 65th AAN Annual Meeting (16-23 mars 2013; San Diego)
Neurologies, 2013, 16, 159, p. 224-226
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
Mitsuhashi S, Boyden SE, Estrella EA, et al.
Neuromuscular disorders : NMD, 2013, 23, 12, p. 975-980
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers RJ, Tawil R, Petek LM, et al.
Nature genetics, 2012, 44, 12, p. 1370-1374
