Bertrand Ségues

Severe manifestations in carrier females in X linked retinitis pigmentosa.

E. Souied, Bertrand Ségues, Imad Ghazi et al. · Journal of Medical Genetics · 1997 · 42 citations · Full text

Mendelian Disorder, Ophthalmology, Scleroderma +12

Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene.

C Oudet, Christian Weber, Josseline Kaplan et al. · Journal of Medical Genetics · 1993 · 28 citations · Full text

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Brigitte Gilbert‐Dussardier, Bertrand Ségues, Jean‐Michel Rozet et al. · Human Mutation · 1996 · 16 citations

Developmental Biology, Ornithine Transcarbamylase Gene, Genetic Disorder +9

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

Patrick Calvas, Bertrand Ségues, Jean‐Michel Rozet et al. · Human Mutation · 1998 · 11 citations · Full text

Point Mutations, Ornithine Transcarbamylase Gene, Genetic Disorder +7

A 3‐base pair in‐frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late‐onset hyperammonemic coma

Bertrand Ségues, Pascale Saugier-Véber, Daniel Rabier et al. · Human Mutation · 1996 · 10 citations