Condition: Mental Retardation, X-Linked, Syndromic 13


rs28934908 in MECP2 gene and Mental Retardation, X-Linked, Syndromic 13 PMID 11309367 2001 MECP2 is highly mutated in X-linked mental retardation.

PMID 11885030 2002 A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

PMID 10986043 2000 A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

PMID 12325019 2002 Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

PMID 16966553 2006 A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

PMID 17296936 2007 Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

PMID 11007980 2000 MECP2 mutation in male patients with non-specific X-linked mental retardation.

PMID 12161600 2002 MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

PMID 11805248 2002 A Rett syndrome MECP2 mutation that causes mental retardation in men.

PMID 12615169 2003 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

PMID 10577905 1999 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

PMID 22497713 2012 Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.

PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

PMID 20479760 2011 Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

PMID 17084570 2007 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.

PMID 23810759 2013 MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).