(Q34387809)

1 August 2017

title

X chromosome inactivation in carriers of Barth syndrome (English)

1 reference

ORCID Public Data File 2021

1 August 2017

1 reference

author name string

K H Orstavik

1

1 reference

1 August 2017

R E Orstavik

2

1 reference

1 August 2017

A K Naumova

3

1 reference

1 August 2017

P D'Adamo

4

1 reference

1 August 2017

A Gedeon

5

1 reference

1 August 2017

P A Bolhuis

6

1 reference

1 August 2017

P G Barth

7

1 reference

1 August 2017

D Toniolo

8

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 November 1998

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

63

1 reference

1 August 2017

issue

5

1 reference

1 August 2017

page(s)

1457-1463

1 reference

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=1377557

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=1377557

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with 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=1377557

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

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=1377557

Mutation characterization and genotype-phenotype correlation in 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=1377557

Barth syndrome may be due to an acyltransferase 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=1377557

X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

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=1377557

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=1377557

A novel X-linked gene, G4.5. is responsible for 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=1377557

Possible X linked congenital mitochondrial cardiomyopathy in three families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

Barth syndrome: clinical features and confirmation of gene localisation to distal 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=1377557

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

Two cases of endocardial fibroelastosis--possible x-linked determination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

Carrier detection in the Wiskott Aldrich 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=1377557

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) 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=1377557

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

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=1377557

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=1377557

X inactivation in females with X-linked disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

Acquired skewing of X-chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

Barth syndrome: clinical observations and genetic linkage studies.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377557

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9792874

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9792874

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X Inactivation in Females with X-Linked Disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9792874

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/302095

1 reference

1 August 2017

1 reference

1 August 2017

1 reference