Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

F Quan, Jadwiga Janas, S Toth-Fejel et al. · PubMed · 1997 · 99 citations

Life Sciences, Genetics, Molecular Genetics +13

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

Vincent Cantagrel · Journal of Medical Genetics · 2004 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes

Jorge Azofeifa, Thomas Voit, Christoph H�bner et al. · Human Genetics · 1995 · 72 citations · Full text

Medicine, Genetics, Molecular Genetics +14

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

Jamel Chelly, F. Marlhens, B. Le Marec et al. · Human Genetics · 1986 · 57 citations

Life Sciences, Genetics, Molecular Genetics +16

Heterogous Dystrophin mRNA Produced by a Novel Splice Acceptor Site Mutation in Intermediate Dystrophinopathy

Kayo Adachi, Yasuhiro Takeshima, Hiroko Wada et al. · Pediatric Research · 2003 · 19 citations

Life Sciences, Genetics, Molecular Biology +13