Fatima Rouan

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby et al. · The American Journal of Human Genetics · 2002 · 369 citations · Full text

Missense Mutations, Genetic Disorder, Pathogenesis +4

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

Fatima Rouan, Thomas W. White, Nkecha Brown et al. · Journal of Cell Science · 2001 · 177 citations

Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations

Gabriele Richard, Nkecha Brown, Fatima Rouan et al. · Journal of Investigative Dermatology · 2003 · 129 citations · Full text

Biology, Genotype-phenotype Correlations, Allelic Variant +9

Disorganization of the Desmin Cytoskeleton and Mitochondrial Dysfunction in Plectin-Related Epidermolysis Bullosa Simplex with Muscular Dystrophy

Rolf Schröder, Wolfram S. Kunz, Fatima Rouan et al. · Journal of Neuropathology & Experimental Neurology · 2002 · 108 citations · Full text

A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency

Johann Bauer, Fatima Rouan, Barbara Kofler et al. · American Journal Of Pathology · 2001 · 54 citations · Full text

Genetics, Pathogenesis, Pathology +7