(Q33673972)

English

Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

glycerol kinase deficiency

1 reference

based on heuristic

inferred from title

adrenal insufficiency

1 reference

based on heuristic

inferred from title

author name string

Clarke A

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Roberts SH

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Thomas NS

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Whitfield A

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Williams J

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Harper PS

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 December 1986

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

23

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

501-508

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

New Giemsa method for the differential staining of sister chromatids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049830

21 June 2018

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3027343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3027343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal X chromosomes in man: Origin, behavior and effects

1 reference

https://pubmed.ncbi.nlm.nih.gov/3027343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/3027343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/3027343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/3027343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/3027343

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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