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A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re‐evaluation is the best indicator for molecular diagnosis

2006; Wiley; Volume: 140A; Issue: 14 Linguagem: Inglês

10.1002/ajmg.a.31314

1552-4833

Anne Donzel‐Javouhey, Christel Thauvin‐Robinet, Véronica Cusin, Nathalie Madinier, E. Manceau, Dominique Dipanda, Véronique Dulieu, Francine Mugneret, Frédéric Huet, Jean‐Raymond Teyssier, Laurence Faivre,

Autism Spectrum Disorder Research

American Journal of Medical Genetics Part AVolume 140A, Issue 14 p. 1603-1607 Research Letter A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re-evaluation is the best indicator for molecular diagnosis† Anne Donzel-Javouhey, Anne Donzel-Javouhey Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorChristel Thauvin-Robinet, Christel Thauvin-Robinet Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorVeronica Cusin, Veronica Cusin Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorNathalie Madinier, Nathalie Madinier Service de Pédiatrie, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorEric Manceau, Eric Manceau Service de Pédopsychiatrie, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorDominique Dipanda, Dominique Dipanda Service de rééducation fonctionnelle, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorVéronique Dulieu, Véronique Dulieu Service de rééducation fonctionnelle, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorFrancine Mugneret, Francine Mugneret Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorFrédéric Huet, Frédéric Huet Service de Pédiatrie, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorJean-Raymond Teyssier, Jean-Raymond Teyssier Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorLaurence Faivre, Corresponding Author Laurence Faivre [email protected] Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceCentre de Génétique, Hôpital d'Enfants, 10, bd Maréchal de Lattre de Tassigny, 21034 Dijon, Cedex, France.Search for more papers by this author Anne Donzel-Javouhey, Anne Donzel-Javouhey Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorChristel Thauvin-Robinet, Christel Thauvin-Robinet Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorVeronica Cusin, Veronica Cusin Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorNathalie Madinier, Nathalie Madinier Service de Pédiatrie, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorEric Manceau, Eric Manceau Service de Pédopsychiatrie, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorDominique Dipanda, Dominique Dipanda Service de rééducation fonctionnelle, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorVéronique Dulieu, Véronique Dulieu Service de rééducation fonctionnelle, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorFrancine Mugneret, Francine Mugneret Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorFrédéric Huet, Frédéric Huet Service de Pédiatrie, Hôpital d'Enfants, CHU Dijon, FranceSearch for more papers by this authorJean-Raymond Teyssier, Jean-Raymond Teyssier Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceSearch for more papers by this authorLaurence Faivre, Corresponding Author Laurence Faivre [email protected] Département de Génétique, Faculté de Médecine et CHU de Dijon, FranceCentre de Génétique, Hôpital d'Enfants, 10, bd Maréchal de Lattre de Tassigny, 21034 Dijon, Cedex, France.Search for more papers by this author First published: 08 June 2006 https://doi.org/10.1002/ajmg.a.31314Citations: 10 † How to cite this article: Donzel-Javouhey A, Thauvin-Robinet C, Cusin V, Madinier N, Manceau E, Dipanda D, Dulieu V, Mugneret F, Huet F, Teyssier J-R, Faivre L. 2006. A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re-evaluation is the best indicator for molecular diagnosis. Am J Med Genet Part A 140A:1603–1607. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51: 1229– 1239. Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P. 2001. 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