(Q35196413)

7 August 2017

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28 (English)

1 reference

7 August 2017

1 reference

Bolhuis PA

1

1 reference

7 August 2017

Hensels GW

2

1 reference

7 August 2017

Hulsebos TJ

3

1 reference

7 August 2017

Baas F

4

1 reference

7 August 2017

Barth PG

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 March 1991

1 reference

7 August 2017

5

1 reference

American Journal of Human Genetics

inferred from page(s)

published in

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7 August 2017

48

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7 August 2017

3

1 reference

7 August 2017

481-485

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Endocardial fibroelastosis: possible X linked inheritance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Multilocus analysis of the fragile X syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Recombination between the factor VIII gene and the DXS52 locus gives the most probable genetic order as centromere-fra(X)-DXS15-DXS52-F8C-telomere

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Report of the committee on linkage and gene order

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Report of the committee on the genetic constitution of the X chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Physical mapping of DXS134 close to the DXS52 locus.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Physical and genetic mapping of polymorphic loci in Xq28 (DXS15, DXS52, and DXS134): analysis of a cosmid clone and a yeast artificial chromosome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

Strategies for multilocus linkage analysis in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682968

An X-linked recessive cardiomyopathy with abnormal mitochondria

26 September 2018

1 reference

12 December 2020

Rapid isolation of eukaryotic DNA

1 reference

12 December 2020

Physical mapping studies on the human X chromosome in the region Xq27-Xqter

1 reference

12 December 2020

Cardiac manifestations in disorders of fat and carnitine metabolism in infancy

1 reference

12 December 2020

Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism

1 reference

12 December 2020

Pulsed-field gel mapping studies in the vicinity of the fragile site at Xq27.3.

1 reference

12 December 2020

A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

12 December 2020

A linkage study of Emery-Dreifuss muscular dystrophy

1 reference

12 December 2020

Identifiers

PMCID

1682968

1 reference

7 August 2017

1 reference