Results 111 to 120 of about 1,312 (124)

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

Epigenetics, 2015
Annika De Jong, Silvere Van Der Maarel, Pj Van Der Vliet   +2 more
exaly  

Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1

Neuromuscular Disorders, 2015
Young-Chul Choi, , Chang-Seok Ki
exaly  

Penetrance of the FSHD mutation differs according to the D4Z4 repeat number

Neuromuscular Disorders, 1997
C. de Toma, S. Chiron, P. Laforet, J.A. Urtizberea, B. Eymard, M. Fardeau, J-C. Kaplan, M. Jeanpierre   +7 more
openaire   +1 more source

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Nature Genetics, 2012
Silvere Van Der Maarel, Engelen B, Pj Van Der Vliet   +2 more
exaly  

Evolution and structural organization of the homeobox- containing repeat D4Z4

2004
openaire   +1 more source

The genes encoding for D4Z4 binding proteins HMGB2, YY1, NCL, and MYOD1 are excluded as candidate genes for FSHD1B

Neuromuscular Disorders, 2005
J R Gilbert
exaly  

Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 2012
Tai-Heng Chen, Yuh-Jyh Jong, Wen-Chen Liang   +2 more
exaly  

D.P.1.05 D4Z4 repeat number and skeletal muscle changes in FSHD

Neuromuscular Disorders, 2008
Y.K. Hayashi, K. Goto, A. Ohkuma, S. Noguchi, I. Nonaka, I. Nishino   +5 more
openaire   +1 more source

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Brain
Silvere Van Der Maarel, Pj Van Der Vliet, Richard Lemmers   +2 more
exaly  

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

Human Molecular Genetics, 2015
Silvere Van Der Maarel, Engelen B, Pj Van Der Vliet   +2 more
exaly