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Pathologie-Biologie|February 26, 2010
[Autism, genetics and synaptic function alterations]O Perche, F Laumonnier, L Baala, et al.American Journal of Medical Genetics|July 12, 1996
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1M Raynaud, C Gendrot, B Dessay, et al.Journal of Medical Genetics|February 9, 2000
First description of germline mosaicism in familial hypertrophic cardiomyopathyJ F Forissier, P Richard, S Briault, et al.Human Reproduction (Oxford, England)|January 5, 2001
Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and menJ Gekas, F Thepot, C Turleau, et al.Journal of Medical Genetics|October 21, 1999
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1L Villard, S Briault, A M Lossi, et al.American Journal of Medical Genetics|November 15, 2000
Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?S Briault, L Villard, U Rogner, et al.Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.Muscle & Nerve|September 17, 2004
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutationsA Muchir, J Medioni, M Laluc, et al.Nature|May 15, 1998
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, et al.American Journal of Medical Genetics|January 31, 1998
A gene for FG syndrome maps in the Xq12-q21.31 regionS Briault, R Hill, A Shrimpton, et al.Pageof 4