(Q35196654)

7 August 2017

Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1 (English)

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7 August 2017

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Verga V

1

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7 August 2017

Hall BK

2

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7 August 2017

Wang SR

3

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7 August 2017

Johnson S

4

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7 August 2017

Higgins JV

5

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7 August 2017

Glover TW

6

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7 August 2017

language of work or name

English

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publication date

1 June 1991

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American Journal of Human Genetics

7 August 2017

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7 August 2017

48

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7 August 2017

1133-1138

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7 August 2017

6

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describes a project that uses

7 August 2017

GM13491

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GM13492

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cites work

Electrophoretic variation for x-chromosome-linked phosphoglycerate kinase (pgk-1) in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Menkes X linked disease: two clonal cell populations in heterozygotes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Primary defect in copper transport underlies mottled mutants in the mouse

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Menkes' kinky-hair 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=1683080

Active X chromosome DNA is unmethylated at eight CCGG sites clustered in a guanine-plus-cytosine-rich island at the 5' end of the gene for phosphoglycerate kinase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Localization of the X inactivation centre on the human X chromosome in Xq13.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Quantitative analysis of high-resolution trypsin-giemsa bands on human prometaphase chromosomes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Mechanisms of giemsa banding of chromosomes. I. Giemsa-11 banding with azure and eosin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Linkage studies in Menkes' disease. The Xg blood group system and C-banding 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=1683080

Menkes' X-linked disease: prenatal diagnosis and carrier detection.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

On the genetic length of the short arm of the human X chromosome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683080

Rapid isolation of DNA probes within specific chromosome regions by interspersed repetitive sequence polymerase chain reaction

26 September 2018

1 reference

12 December 2020

Genetic mapping in the region of the mouse X-inactivation center

1 reference

12 December 2020

Menkes syndrome in a girl with X-autosome translocation

1 reference

12 December 2020

Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome

1 reference

12 December 2020

Identifiers

PMCID

1683080

1 reference

7 August 2017

1 reference