J. Chelly

Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

V. des Portes, Fiona Francis, J.-M. Pinard et al. · Human Molecular Genetics · 1998 · 262 citations · Full text

Genetics, Doublecortin Gene, Epigenetics +20

The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome.

Janet Shipley, J Clark, A. Jayne Crew et al. · PubMed · 1994 · 52 citations

Mutations and phenotype in isolated glycerol kinase deficiency.

AP Walker, Françoise Muscatelli, A N Stafford et al. · PubMed · 1996 · 36 citations · Full text

So-called ‘cryptogenic’ partial seizures resulting from a subtle cortical dysgenesis due to adoublecortin gene mutation

V. des Portes, I Souville, Fiona Francis et al. · Seizure · 2002 · 14 citations · Full text

Developmental Biology, Brain Development, Neurological Disorder +10

Characterisation of molecular DNA rearrangements within the Xq12 – q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)

N S Thomas, J. Chelly, J. Zonana et al. · Human Molecular Genetics · 1993 · 12 citations