(Q33676602)

28 July 2017

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome (English)

1 reference

28 July 2017

1 reference

1 reference

Gedeon AK

1

1 reference

28 July 2017

Wilson MJ

2

1 reference

28 July 2017

Colley AC

3

1 reference

28 July 2017

Sillence DO

4

1 reference

28 July 2017

Mulley JC

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 1995

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

32

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28 July 2017

5

1 reference

28 July 2017

383-388

1 reference

Possible X linked congenital mitochondrial cardiomyopathy in three families

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Endocardial fibroelastosis: possible X linked inheritance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Identification of a second pseudoautosomal region near the Xq and Yq telomeres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Report and abstracts of the Fourth International Workshop on Human X Chromosome Mapping 1993. St. Louis, Missouri, May 9-12, 1993.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Barth syndrome: clinical observations and genetic linkage studies.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050435

Inherited cardiomyopathies

30 October 2018

1 reference

12 December 2020

Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134

1 reference

12 December 2020

An X-linked recessive cardiomyopathy with abnormal mitochondria

1 reference

12 December 2020

X-linked dilated cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.5.383

1 reference

28 July 2017

1 reference

28 July 2017

1 reference