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Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.Annals of Neurology|April 24, 2012
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsyJennifer Friedman, Emmanuel Roze, Jose E Abdenur, et al.Journal of Clinical Immunology|February 28, 2015
Infectious and immunologic phenotype of MECP2 duplication syndromeMichael Bauer, Uwe Kölsch, Renate Krüger, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 17, 2011
Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trialsVéronique Humbertclaude, Dalil Hamroun, Kamel Bezzou, et al.Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.Cell Reports|July 27, 2012
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsionsHsien-Yang Lee, Yong Huang, Nadine Bruneau, et al.Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.Pageof 5