(Q34389104)

1 August 2017

title

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation (English)

1 reference

1 August 2017

R M Plenge

1

1 reference

1 August 2017

L Tranebjaerg

2

1 reference

1 August 2017

P K Jensen

3

1 reference

1 August 2017

C Schwartz

4

1 reference

1 August 2017

H F Willard

5

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1 August 2017

language of work or name

English

0 references

publication date

1 March 1999

1 reference

American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

64

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1 August 2017

issue

3

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1 August 2017

page(s)

759-767

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

X chromosome inactivation in carriers of Barth syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Role of the region 3' to Xist exon 6 in the counting process of X-chromosome inactivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

An X chromosome gene regulates hematopoietic stem cell kinetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Expression of genes from the human active and inactive X chromosomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Xist has properties of the X-chromosome inactivation centre

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

A 450 kb transgene displays properties of the mammalian X-inactivation center.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Parametric and nonparametric linkage analysis: a unified multipoint approach

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Mental status of females with an FMR1 gene full mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Requirement for Xist in X chromosome inactivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Evolutionary conservation of possible functional domains of the human and murine XIST genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Insights into lymphocyte development from X-linked immune deficiencies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Contribution of the FMR1 gene mutation to human intellectual dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Strategies for multilocus linkage analysis in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Controlling elements in the mouse X chromosome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Role of the Xist gene in X chromosome choosing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

X inactivation in females with X-linked disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Nerve deafness: optic nerve atrophy, and dementia: a new X-linked recessive syndrome?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377793

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

27 October 2018

1 reference

12 December 2020

Xist-deficient mice are defective in dosage compensation but not spermatogenesis

1 reference

12 December 2020

X-linked Wiskott-Aldrich syndrome in a girl

1 reference

12 December 2020

Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Controlling elements in the mouse: IV. Evidence of non-randomX-inactivation

1 reference

12 December 2020

Expression of X-linked phosphoglycerate kinase in early mouse embryos homozygous at the Xce locus

1 reference

12 December 2020

Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe

1 reference

12 December 2020

X Inactivation in Females with X-Linked Disease

1 reference

12 December 2020

Identifiers

DOI

10.1086/302286

1 reference

1 August 2017

1 reference

1 August 2017

1 reference