(Q44153653)

English

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

scientific article published in October 2002

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scholarly article

1 reference

Europe PubMed Central

30 November 2017

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

1 reference

Europe PubMed Central

30 November 2017

author name string

Birgitta Winnepenninckx

1

1 reference

Europe PubMed Central

30 November 2017

Vanessa Errijgers

2

1 reference

Europe PubMed Central

30 November 2017

France Hayez-Delatte

3

1 reference

Europe PubMed Central

30 November 2017

Edwin Reyniers

4

1 reference

Europe PubMed Central

30 November 2017

R Frank Kooy

5

1 reference

Europe PubMed Central

30 November 2017

publication date

1 October 2002

1 reference

Europe PubMed Central

30 November 2017

1 reference

Europe PubMed Central

30 November 2017

20

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Europe PubMed Central

30 November 2017

4

1 reference

Europe PubMed Central

30 November 2017

249-252

1 reference

Europe PubMed Central

30 November 2017

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.10130

21 January 2018

Monogenic causes of X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

XLMR genes: update 2000.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

MECP2 is highly mutated in X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

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.10130

21 January 2018

Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

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.10130

21 January 2018

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

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.10130

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

Low frequency of MECP2 mutations in mentally retarded males.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10130

21 January 2018

Identifiers

10.1002/HUMU.10130

1 reference

Europe PubMed Central

30 November 2017

1 reference

Europe PubMed Central

30 November 2017

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