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Journal of Medical Genetics|July 4, 2001
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the diseaseL Villard, N Lévy, F Xiang, et al.Oncogene|May 1, 1994
The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosomeJ M Shipley, J Clark, A J Crew, et al.American Journal of Human Genetics|June 1, 1996
Mutations and phenotype in isolated glycerol kinase deficiencyA P Walker, F Muscatelli, A N Stafford, et al.Human Molecular Genetics|May 18, 2000
MECP2 mutations account for most cases of typical forms of Rett syndromeT Bienvenu, A Carrié, N de Roux, et al.European Journal of Medical Genetics|February 14, 2006
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular updateC Philippe, L Villard, N De Roux, et al.Human Molecular Genetics|July 1, 1994
Absence of the XIST gene from late-replicating isodicentric X chromosomes in leukaemiaK A Rack, J Chelly, R J Gibbons, et al.European Journal of Human Genetics : EJHG|April 11, 2000
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28L Villard, V des Portes, N Levy, et al.Clinical Genetics|September 27, 2000
Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivationM F Portnoï, N Bouayed-Abdelmoula, M Mirc, et al.Neuropediatrics|September 10, 1999
Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesisP H van der Valk, I Snoeck, L C Meiners, et al.Human Molecular Genetics|November 1, 1992
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genesA P Walker, J Chelly, D R Love, et al.Pageof 14