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by Miguet, Marguerite and Faivre, Laurence and Amiel, Jeanne and Nizon, Mathilde and Touraine, Renaud and Prieur, Fabienne and Pasquier, Laurent and Lefebvre, Mathilde and Thevenon, Julien and Dubourg, Christèle and Julia, Sophie and Sarret, Catherine and Remerand, Ganaëlle and Francannet, Christine and Laffargue, Fanny and Boespflug-Tanguy, Odile and David, Albert and Isidor, Bertrand and Vigneron, Jacqueline and Leheup, Bruno and Lambert, Laetitia and Philippe, Christophe and Béri-Dexheimer, Mylène and Cuisset, Jean-Marie and Andrieux, Joris and Plessis, Ghislaine and Toutain, Annick and Guibaud, Laurent and Cormier-Daire, Valérie and Rio, Marlene and Bonnefont, Jean-Paul and Echenne, Bernard and Journel, Hubert and Burglen, Lydie and Chantot-Bastaraud, Sandrine and Bienvenu, Thierry and Baumann, Clarisse and Perrin, Laurence and Drunat, Séverine and Jouk, Pierre-Simon and Dieterich, Klaus and Devillard, Françoise and Lacombe, Didier and Philip, Nicole and Sigaudy, Sabine and Moncla, Anne and Missirian, Chantal and Badens, Catherine and Perreton, Nathalie and Thauvin-Robinet, Christel and AChro-Puce, Réseau and Pedespan, Jean-Michel and Rooryck, Caroline and Goizet, Cyril and Vincent-Delorme, Catherine and Duban-Bedu, Bénédicte and Bahi-Buisson, Nadia and Afenjar, Alexandra and Maincent, Kim and Héron, Delphine and Alessandri, Jean-Luc and Martin-Coignard, Dominique and Lesca, Gaëtan and Rossi, Massimiliano and Raynaud, Martine and Callier, Patrick and Mosca-Boidron, Anne-Laure and Marle, Nathalie and Coutton, Charles and Satre, Véronique and Caignec, Cédric Le and Malan, Valérie and Romana, Serge and Keren, Boris and Tabet, Anne-Claude and Kremer, Valérie and Scheidecker, Sophie and Vigouroux, Adeline and Lackmy-Port-Lis, Marilyn and Sanlaville, Damien and Till, Marianne and Carneiro, Maryline and Gilbert-Dussardier, Brigitte and Willems, Marjolaine and Van Esch, Hilde and Portes, Vincent Des and El Chehadeh, Salima
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 359 - 371
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated... 
X-linked | genetic counselling | MECP2duplication syndrome | Xq28 duplication | MECP2gene | facial dysmorphism | INCLUDING MECP2 | MENTAL-RETARDATION | RETT-SYNDROME | ABNORMALITIES | XQ28 | MUTATION | GENETICS & HEREDITY | FEMALES | HIRSCHSPRUNGS-DISEASE | GENE COPY NUMBER | FILAMIN-A | Life Sciences | Genetics | Human genetics
Journal Article
American journal of human genetics, ISSN 0002-9297, 2014, Volume 95, Issue 6, pp. 729 - 735
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2011, Volume 19, Issue 5, pp. 507 - 512
Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor... 
MECP2 | X-inactivation | Xq28 duplication | Mental retardation in females | mental retardation in females | INFECTIONS | AUTISM | RETT-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | SYMPTOMS | FEATURES | REGION | GENE | XQ28 | GENETICS & HEREDITY | Gene Duplication | Humans | Adolescent | Female | Child | Methyl-CpG-Binding Protein 2 - genetics | Intellectual Disability - genetics | X Chromosome Inactivation
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4833, 2010, Volume 152A, Issue 5, pp. 1079 - 1088
Journal Article
European heart journal, ISSN 0195-668X, 04/2018, Volume 39, Issue 15, pp. 1269 - 1277
Journal Article
Neuropediatrics, ISSN 0174-304X, 02/2019, Volume 50, Issue 1, pp. 061 - 063
Abstract X-linked myotubular myopathy (XLMTM) is a rare inherited neuromuscular disorder associated with mutations in the MTM1 gene on the Xq28 region. We... 
Short Communication | X-linked myotubular myopathy | MTM1 gene | Xq28 duplication | INACTIVATION | GENE | PEDIATRICS | DUPLICATION | SPECTRUM | MTM1 MUTATIONS | CARRIERS | GIRL | CLINICAL NEUROLOGY
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 03/2013, Volume 72, Issue 3, pp. 437 - 444
Journal Article
Molecular Syndromology, ISSN 1661-8769, 04/2012, Volume 2, Issue 3-5, pp. 128 - 136
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability,... 
Paper | MECP2 | Array comparative genomic hybridization | Hypotonia | Intellectual disability | Duplication | Epilepsy | Xq28 | X chromosome | Spasticity | Recurrent infections
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2010, Volume 68, Issue 6, pp. 951 - 955
Journal Article
Journal Article