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Journal of Medical Genetics|July 10, 2007
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal gangliaY Saillour, G Zanni, V Des Portes, et al.Prenatal Diagnosis|August 1, 1995
Prenatal diagnosis of trisomy 8 mosaicism in CVS after abnormal ultrasound findings at 12 weeksA Guichet, S Briault, A Toutain, et al.Human Molecular Genetics|June 9, 1998
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)V des Portes, F Francis, J M Pinard, et al.Neuroimage|August 10, 2014
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrificationD Germanaud, J Lefèvre, C Fischer, et al.European Journal of Human Genetics : EJHG|June 15, 2000
Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three familiesM Raynaud, M P Moizard, B Dessay, et al.American Journal of Medical Genetics|April 6, 1999
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one familyN Ronce, M Raynaud, A Toutain, et al.European Journal of Human Genetics : EJHG|July 26, 2000
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screeningM P Moizard, A Toutain, D Fournier, et al.Genetic Counseling (Geneva, Switzerland)|January 1, 1997
Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literatureA Toutain, Y Plée, M J Ployet, et al.Journal of Medical Genetics|March 1, 1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22V des Portes, J M Pinard, D Smadja, et al.American Journal of Medical Genetics|September 24, 1999
Splenogonadal fusion limb defect syndrome: report of five new cases and reviewD Bonneau, J Roume, M Gonzalez, et al.Pageof 11