(Q37216254)

19 August 2017

0 references

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

1 reference

19 August 2017

5

1 reference

19 August 2017

6

Annemarie Poustka

1 reference

19 August 2017

Susan Lindsay

2

1 reference

ORCID Public Data File 2021

author name string

Sabine M Klauck

series ordinal

1

1 reference

19 August 2017

Kim S Beyer

series ordinal

3

1 reference

19 August 2017

Miranda Splitt

series ordinal

4

1 reference

19 August 2017

language of work or name

English

0 references

publication date

15 February 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

70

1 reference

19 August 2017

4

1 reference

19 August 2017

1034-1037

1 reference

Splitting and lumping in the nosology of XLMR.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

MECP2 is highly mutated in X-linked mental retardation.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

In-frame deletion inMECP2 causes mild nonspecific mental retardation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379098

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

4 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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

Identifiers

DOI

10.1086/339553

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

11885030

1 reference