Variant: rs61750241 

    present in Gene: MECP2
    present in Chromosome: X
    Position on Chromosome: 154031022
    Alleles of this Variant: C/-

rs61750241 in MECP2 gene and Dysmorphic features PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 17351020 2007 MECP2 mutations in males.

PMID 17267601 2007 Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

PMID 16169931 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

PMID 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

PMID 16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.

PMID 15558314 2005 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

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

PMID 11227330 2001 Epilepsy in a representative series of Rett syndrome.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

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

PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

PMID 27354166 2016 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

PMID 8177735 1993 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

rs61750241 in MECP2 gene and ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS PMID 11058114 2000 Functional consequences of Rett syndrome mutations on human MeCP2.

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

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

rs61750241 in MECP2 gene and Lubs X-linked mental retardation syndrome PMID 10577905 1999 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

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

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

rs61750241 in MECP2 gene and Mental Retardation, X-Linked, Syndromic 13 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.

rs61750241 in MECP2 gene and Muscle hypotonia PMID 27354166 2016 Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

PMID 16832102 2006 Early progressive encephalopathy in boys and MECP2 mutations.

PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PMID 24458799 2014 MECP2 duplication: possible cause of severe phenotype in females.

PMID 8177735 1993 Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.

PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.

PMID 11035019 2001 DNA recognition by the methyl-CpG binding domain of MeCP2.

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

PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.

PMID 16169931 2006 Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

PMID 24399845 2014 Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

PMID 15558314 2005 Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.

PMID 15057977 2004 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

PMID 17351020 2007 MECP2 mutations in males.

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

PMID 21154482 2010 Rett syndrome: revised diagnostic criteria and nomenclature.

PMID 17267601 2007 Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

PMID 11227330 2001 Epilepsy in a representative series of Rett syndrome.

rs61750241 in MECP2 gene and Rett Syndrome PMID 12872250 2003 Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

PMID 15557528 2004 Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

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

PMID 19552836 2009 [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients].

PMID 12746405 2003 Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.

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

PMID 11462237 2001 DHPLC analysis of the MECP2 gene in Italian Rett patients.

PMID 21160487 2011 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

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

PMID 16376510 2006 MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.