Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Brain & development (Tokyo. 1979)

• Publication date

  2007-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/J.BRAINDEV.2006.09.012PMID 17084570
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

  2006cited by this paper
• MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.

  2006influential reference
• Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

  2005cited by this paper
• CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

  2005cited by this paper
• X-linked mental retardation

  2005cited by this paper
• Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

  2005cited by this paper
• Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

  2005cited by this paper
• MECP2 mutation analysis in patients with mental retardation

  2005influential reference
• Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

  2005cited by this paper
• The impact of MECP2 mutations in the expression patterns of Rett syndrome patients

  2004cited by this paper
• A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

  2004cited by this paper
• DG-CST (Disease Gene Conserved Sequence Tags), a database of human–mouse conserved elements associated to disease genes

  2004cited by this paper
• The major form of MeCP2 has a novel N-terminus generated by alternative splicing.

  2004cited by this paper
• Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations

  2004cited by this paper
• MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

  2004cited by this paper
• RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

  2003influential reference
• Identification of MeCP2 mutations in a series of females with autistic disorder.

  2003cited by this paper
• A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

  2003cited by this paper
• Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

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• MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution

  2002cited by this paper
• Low frequency of MECP2 mutations in mentally retarded males

  2002cited by this paper
• A Rett syndrome MECP2 mutation that causes mental retardation in men

  2002cited by this paper
• MECP2 is highly mutated in X-linked mental retardation.

  2001cited by this paper
• MeCP2 mutations in children with and without the phenotype of Rett syndrome

  2001cited by this paper
• DHPLC analysis of the MECP2 gene in Italian Rett patients

  2001cited by this paper
• Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

  2001cited by this paper
• A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

  2000cited by this paper
• Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

  2000cited by this paper
• Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.

  2000cited by this paper
• MECP2 mutation in male patients with non‐specific X‐linked mental retardation

  2000cited by this paper
• Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

  2000influential reference
• Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

  2000cited by this paper
• Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

  1999cited by this paper
• Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

  1998cited by this paper
• Position effect in human genetic disease.

  1998cited by this paper
• MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.

  1997cited by this paper
• A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

  1997cited by this paper

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  2017cites this paper
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  2014cites this paper
• Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays

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• MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

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• Pathogenesis of Rett syndrome and study of the role of meCP2 protein in neuronal function.

  2011cites this paper
• Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

  2011cites this paper
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  2011cites this paper
• Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

  2011cites this paper
• High Frequency of Nonrecurrent MECP2 Duplications Among Brazilian Males with Mental Retardation

  2010cites this paper
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  2009cites this paper
• Pervasive Developmental Disorder and Mental Retardation Methyl-CpG-binding Protein 2 ( MECP 2 ) Gene Mutations in an Italian Sample of Patients with

  2009cites this paper