Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Q28188406)

Gabriel Miltenberger-Miltényi

Europe PubMed Central

title

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (English)

0 references

author

series ordinal

1

object named as

Gabriel Miltenberger-Miltenyi

0 references

Gabriel Miltenberger-Miltenyi

1 reference

ORCID Public Data File 2021

author name string

Franco Laccone

series ordinal

2

0 references

language of work or name

English

0 references

publication date

August 2003

0 references

published in

Human Mutation

0 references

volume

22

0 references

page(s)

107-15

0 references

issue

2

0 references

cites work

MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

Occurrence of Rett syndrome in boys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.10243

1 reference

7 January 2021

Rett syndrome: random X chromosome inactivation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutation analysis of the coding sequence of the MECP2 gene in infantile autism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 mutations account for most cases of typical forms of Rett syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 mutation in a boy with language disorder and schizophrenia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutation analysis of the MECP2 gene in patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 is highly mutated in X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Preserved speech variant is allelic of classic Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 mutation screening in Swedish classical Rett syndrome females

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Parental origin of de novo MECP2 mutations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutations in the MECP2 gene in a cohort of girls with Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MeCP2 mutations in children with and without the phenotype of Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Absence of MeCP2 mutations in patients from the South Carolina autism project

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

De novo MECP2 mutation in a 46,XX male patient with Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutation analysis in Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett syndrome in Spain: mutation analysis and clinical correlations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

DHPLC analysis of the MECP2 gene in Italian Rett patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett syndrome in a boy with a 47,XXY karyotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Balanced X chromosome inactivation patterns in the Rett syndrome brain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Two affected boys in a Rett syndrome family: clinical and molecular findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Cytogenetic and molecular-cytogenetic studies of Rett syndrome (RTT): a retrospective analysis of a Russian cohort of RTT patients (the investigation of 57 girls and three boys).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Mutation screening in Rett syndrome patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Low frequency of MECP2 mutations in mentally retarded males.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

In-frame deletion inMECP2 causes mild nonspecific mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021

Rett syndrome: clinical manifestations in males with MECP2 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10243

7 January 2021