Low frequency of MECP2 mutations in mentally retarded males.

scientific article

Low frequency of MECP2 mutations in mentally retarded males. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/SJ.EJHG.5200836
P698PubMed publication ID12111644
P5875ResearchGate publication ID11266247

P50authorBert B A de VriesQ100959846
Astrid OudakkerQ130284906
Han G. BrunnerQ22669719
Tjitske KleefstraQ28468806
Erik SistermansQ42886716
P2093author name stringHelger G Yntema
Ben C J Hamel
Hans van Bokhoven
Tom Romein
Willy Nillesen
P2860cites workA mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in malesQ34144191
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsQ34146268
Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study GroupQ35249493
MECP2 mutation in non-fatal, non-progressive encephalopathy in a maleQ35436994
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding proteinQ35437213
Rett syndrome: Criteria for inclusion and exclusionQ40562627
Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genesQ43560550
MECP2 is highly mutated in X-linked mental retardationQ48369835
MECP2 mutation in male patients with non-specific X-linked mental retardation.Q50312539
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.Q51955909
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.Q51958928
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.Q54493491
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in malesQ57206738
In-frame deletion inMECP2 causes mild nonspecific mental retardationQ58061411
Two affected boys in a Rett syndrome family: clinical and molecular findingsQ73172439
MeCP2 mutations in children with and without the phenotype of Rett syndromeQ74009717
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boyQ77769287
P433issue8
P304page(s)487-490
P577publication date2002-08-01
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleLow frequency of MECP2 mutations in mentally retarded males.
P478volume10

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cites work (P2860)
Q34699414Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.
Q37962183Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities
Q36286566Does genotype predict phenotype in Rett syndrome?
Q50687234Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Q44153653Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
Q51946326MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
Q35597795MECP2 and beyond: phenotype-genotype correlations in Rett syndrome
Q51935037MECP2 mutation analysis in patients with mental retardation.
Q50225101MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning
Q36757032MECP2 mutations in males.
Q51946429MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.
Q47626064Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion
Q28260093Mechanisms of disease: neurogenetics of MeCP2 deficiency
Q28240924Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
Q43804873Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
Q28188406Mutations and polymorphisms in the human methyl CpG-binding protein MECP2
Q41938321Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients
Q34205119Nonsyndromic X-linked mental retardation: where are the missing mutations?
Q28255289Rett syndrome: a prototypical neurodevelopmental disorder
Q24674633Rett syndrome: clinical review and genetic update
Q36545755Rett syndrome: new clinical and molecular insights.
Q90401570The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2
Q44830611Update on the genetics of X-linked mental retardation
Q33911020X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome
Q35026980X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

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