I. Ghazi

发表

Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, American journal of human genetics.

Genetic heterogeneity of Usher syndrome type 1 in French families.

J. Weissenbach, D. Bonneau, J. Dufier, 1994, Genomics.

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

A. Munnich, E. Souied, N. Philip, 1994, Human molecular genetics.

Leber congenital amaurosis.

A. Munnich, E. Souied, J. Dufier, 1999, Molecular genetics and metabolism.

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

D. Bonneau, H. Dollfus, J. Frézal, 1992, Genomics.

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly.

A. Munnich, E. Souied, G. Soubrane, 1999, Molecular genetics and metabolism.

Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study.

A. Munnich, E. Souied, G. Soubrane, 1999, American journal of ophthalmology.

Severe manifestations in carrier females in X linked retinitis pigmentosa.

A. Munnich, E. Souied, B. Segues, 1997, Journal of medical genetics.

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene

A. Munnich, E. Souied, J. Dufier, 2002, Journal of medical genetics.

Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis

J. Weissenbach, A. Munnich, A. Vignal, 1993 .