Results 71 to 80 of about 151 (87)

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients

Cells, 2022
Juliette Giménez, Valerio Caputo, Carlo Fabrizio   +2 more
exaly  

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Human Mutation, 2009
Silvere van der Maarel, Engelen B, Sabrina Sacconi   +2 more
exaly  

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

Human Mutation, 2014
Silvere van der Maarel, Kyoko Yokomori, Ali Mortazavi   +2 more
exaly  

Increasing D4Z4 repeat copy number compromises C2C12 myoblast differentiation

FEBS Letters, 2003
David Picketts
exaly  

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, Hyungseok Lee
exaly  

Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35)

Genomics, 2012
Marta Giussani, Maria Francesca Cardone, Beatrice Bodega   +2 more
exaly  

Recurrent somatic mosaicism for D4Z4 contractions in a family with facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 2005
Silvere van der Maarel, Richard Lemmers, George W Padberg   +2 more
exaly  

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Orphanet Journal of Rare Diseases, 2015
Nicolas Levy, Guilhem Sole, Frédérique Magdinier   +2 more
exaly  

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

Nature Genetics, 2003
Silvere van der Maarel, George W Padberg, Sara T Winokur   +2 more
exaly