(Q51946429)

18 April 2018

title

MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. (English)

1 reference

18 April 2018

author name string

Violaine Bourdon

1

1 reference

18 April 2018

Christophe Philippe

2

1 reference

18 April 2018

Dominique Martin

3

1 reference

18 April 2018

Alain Verloès

4

1 reference

18 April 2018

Agnès Grandemenge

5

1 reference

18 April 2018

Philippe Jonveaux

6

1 reference

18 April 2018

publication date

1 January 2003

1 reference

18 April 2018

Molecular Diagnosis and Therapy

published in

1 reference

18 April 2018

volume

7

1 reference

18 April 2018

issue

1

1 reference

18 April 2018

page(s)

3-7

1 reference

18 April 2018

https://scigraph.springernature.com/pub.10.1007/bf03260014

exact match

0 references

cites work

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/10.1007%2FBF03260014

Rett syndrome: a surprising result of mutation in MECP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

Occurrence of Rett syndrome in boys.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

Rett syndrome: clinical manifestations in males with MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

MECP2 is highly mutated in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

Low frequency of MECP2 mutations in mentally retarded males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

In-frame deletion inMECP2 causes mild nonspecific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FBF03260014

On a unusual brain atrophy syndrome in hyperammonemia in childhood

21 January 2018

1 reference

12 December 2020

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Spectrum of MECP2 mutations in Rett syndrome

1 reference

12 December 2020

Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation

1 reference

12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03260014

1 reference

18 April 2018

1 reference

18 April 2018