(Q34144191)

31 July 2017

0 references

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

1 reference

ORCID Public Data File 2021

31 July 2017

0 references

1 reference

1 reference

Patrizia D'Adamo

1 reference

ORCID Public Data File 2021

author name string

Meloni I

1

1 reference

31 July 2017

Bruttini M

2

1 reference

31 July 2017

Longo I

3

1 reference

31 July 2017

Mari F

4

1 reference

31 July 2017

Rizzolio F

5

1 reference

31 July 2017

D'Adamo P

6

1 reference

31 July 2017

Denvriendt K

7

1 reference

31 July 2017

Fryns JP

8

1 reference

31 July 2017

Toniolo D

9

1 reference

31 July 2017

Renieri A

10

1 reference

31 July 2017

language of work or name

English

0 references

publication date

12 September 2000

1 reference

American Journal of Human Genetics

31 July 2017

published in

1 reference

31 July 2017

volume

67

1 reference

31 July 2017

issue

4

1 reference

31 July 2017

page(s)

982-985

1 reference

Preserved speech variant is allelic of classic Rett syndrome

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

Methyl-CpG-binding protein 2 mutations in Rett syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

Mutation screening in Rett syndrome patients.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

A novel X-linked gene, G4.5. is responsible for Barth syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

Human brain factor 1, a new member of the fork head gene family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287900

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

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10986043

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10986043

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/303078

1 reference

31 July 2017

1 reference

31 July 2017

1 reference