Condition: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
rs1557135004 in
MECP2 gene and
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
PMID 16473305 2006 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
PMID 19914908 2010 Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
PMID 10814718 2000 Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
PMID 23696494 2013 Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
PMID 21878110 2011 Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.
PMID 14974082 2004 Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.
PMID 17387578 2007 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
PMID 11746022 2001 Preserved speech variants of the Rett syndrome: molecular and clinical analysis.
PMID 12325033 2002 MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome.
PMID 11913567 2002 Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.
PMID 10767337 2000 Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.
PMID 17142618 2006 Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
PMID 12843318 2003 Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.
PMID 11960578 2001 Mutation analysis in Rett syndrome.
PMID 20376788 2010 [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].
PMID 21831886 2011 MeCP2 Rett mutations affect large scale chromatin organization.
PMID 22182064 2012 What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
PMID 16225173 2005 Clinical stringency greatly improves mutation detection in Rett syndrome.
PMID 11245712 2001 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.
PMID 24511209 2014 Subclinical inflammatory status in Rett syndrome.
PMID 16077736 2005 Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett 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 22476991 2012 Genetic and epileptic features in Rett syndrome.
PMID 24283265 2013 MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits.
PMID 23270700 2013 Pubertal trajectory in females with Rett syndrome: a population-based study.
PMID 23421866 2013 Using a large international sample to investigate epilepsy in Rett syndrome.
PMID 26647311 2016 The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.
PMID 26418480 2015 Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.
PMID 11738866 2001 Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems.
PMID 22368975 2011 Rett syndrome associated with continuous spikes and waves during sleep.
PMID 10852707 2000 Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA.
PMID 11738879 2001 A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.
PMID 18337588 2008 Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
PMID 10508514 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
PMID 27465203 2016 Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
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 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
PMID 11007980 2000 MECP2 mutation in male patients with non-specific X-linked mental retardation.
PMID 11214906 2001 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.
PMID 14649554 2003 InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome.
PMID 23770565 2013 Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor.
PMID 10991688 2000 Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
PMID 23770587 2013 Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.
PMID 24970834 2014 Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.
PMID 11738864 2001 Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech.
PMID 11738883 2001 Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
PMID 21160487 2011 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
PMID 12655490 2003 Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.
PMID 11241840 2001 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
PMID 11055898 2000 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
PMID 27929079 2016 From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
PMID 22923521 2012 Targeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization.
PMID 15737703 2005 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
PMID 18021529 2007 [Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].
PMID 11309679 2001 MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
PMID 14598336 2003 MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.
PMID 11309367 2001 MECP2 is highly mutated in X-linked mental retardation.
PMID 26490184 2016 MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.
PMID 24626160 2014 Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X.
PMID 25541993 2014 Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
PMID 11524741 2001 Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
PMID 10854091 2000 Preserved speech variant is allelic of classic Rett syndrome.
PMID 25634563 2015 Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.
PMID 1241840 1975 [Technic of the entire cochleogram for the study of the cochlea in guinea pigs].
PMID 23238081 2013 MeCP2 deficiency is associated with impaired microtubule stability.
PMID 18174548 2007 Rett syndrome: North American database.
PMID 22497713 2012 Apneic crises: a clue for MECP2 testing in severe neonatal hypotonia-respiratory failure.
PMID 15633890 2004 A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.
PMID 21982064 2012 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
PMID 20151026 2009 Variable phenotypic expression of a MECP2 mutation in a family.
PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.
PMID 18332345 2008 Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
PMID 26604147 2016 Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.
PMID 17236109 2006 Male Rett phenotypes in T158M and R294X MeCP2-mutations.
PMID 27442528 2016 Apoptotic Activity of MeCP2 Is Enhanced by C-Terminal Truncating Mutations.
PMID 11462237 2001 DHPLC analysis of the MECP2 gene in Italian Rett patients.
PMID 19371229 2009 Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.
PMID 22525432 2012 Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis.