Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius, +11

The American Journal of Human Genetics

Severe Mental RetardationMendelian DisorderPsychiatryCorticobasal DegenerationNeuroanatomy +10

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Lars Riff Jensen, M Amende, Ulf Gurok, +17

The American Journal of Human Genetics

ChromatinTranscriptional RegulationGenome InstabilityJarid1c GeneChromatin Remodeling +12

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

Bartłomiej Budny, Wei Chen, Heymut Omran, +10

Human Genetics

Intellectual ImpairmentCiliary DysfunctionCraniofacial DisorderGenetic DisorderFragile X Spectrum +8

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Vera M. Kalscheuer, Kristine Freude, Luciana Musante, +30

Nature Genetics

Molecular NeuroscienceMendelian DisorderPsychiatryGenetic DisorderGenetics +8

A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Mohammad Mahdi Motazacker, Benjamin R. Rost, Tim Hucho, +12

The American Journal of Human Genetics

NeuropsychologyMolecular NeurosciencePsychiatryGenetic DisorderGenetics +8

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, +6

The American Journal of Human Genetics

Classical Menkes DiseaseMendelian DisorderGenetic DisorderGeneticsPathogenesis +5

NovelJARID1C/SMCX mutations in patients with X-linked mental retardation

Andreas Tzschach, Steffen Lenzner, Bettina A. Moser, +8

Human Mutation

Xlmr GenesMendelian DisorderGenetic DisorderGeneticsX-linked Mental Retardation +11

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, +30

Human Mutation

GeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene IdentificationBp Families +15

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Hossein Najmabadi, Mohammad Mahdi Motazacker, Masoud Garshasbi, +18

Human Genetics

Identifies 8Mendelian DisorderGenetic DisorderMedicineGenetics +8

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

Suzanna G.M. Frints, Steffen Lenzner, Mareike Bauters, +20

European Journal of Human Genetics

Developmental BiologyGenetic DisorderGeneticsPathologyMct8 Expression +6