Results 81 to 87 of about 151 (87)

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  

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  

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  

Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35

Internal Medicine, 2017
Osamu Uemura, Ichizo Nishino, Nagai Takuhito   +2 more
exaly  

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families

Clinical Genetics
exaly