(Q37361965)

19 August 2017

0 references

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders (English)

1 reference

19 August 2017

Robert M Plenge

1

1 reference

19 August 2017

Roger A Stevenson

2

1 reference

19 August 2017

Herbert A Lubs

3

1 reference

19 August 2017

Charles E Schwartz

4

1 reference

19 August 2017

Huntington F Willard

5

1 reference

19 August 2017

language of work or name

English

0 references

publication date

30 May 2002

1 reference

American Journal of Human Genetics

19 August 2017

1 reference

19 August 2017

71

1 reference

19 August 2017

168-173

1 reference

19 August 2017

1

1 reference

Gene action in the X-chromosome of the mouse (Mus musculus L.)

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Monogenic causes of X-linked mental retardation.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Syndromic XLMR genes (MRXS): update 2000.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

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=384975

6 September 2017

XLMR genes: update 1998.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X 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=384975

PAK3 mutation in nonsyndromic X-linked mental retardation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

A promoter mutation in the XIST gene in two unrelated families with skewed 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=384975

Heritability of X chromosome--inactivation phenotype in a large family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

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=384975

Insights into lymphocyte development from X-linked immune deficiencies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Father-to-daughter transmission of focal dermal hypoplasia associated with nonrandom X-inactivation: support for X-linked inheritance and paternal X chromosome mosaicism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Patterns of X chromosome inactivation in the Rett syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

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=384975

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

X inactivation in females with X-linked disease.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

Genetic control of X inactivation and processes leading to X-inactivation skewing.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=384975

GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE

2 September 2018

1 reference

12 December 2020

Tissue specificity of X-chromosome inactivation patterns

1 reference

12 December 2020

X chromosome-inactivation patterns in patients with Rett syndrome

1 reference

12 December 2020

X Inactivation in Females with X-Linked Disease

1 reference

12 December 2020

Identifiers

DOI

10.1086/341123

1 reference

19 August 2017

1 reference

19 August 2017

1 reference