Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq (Q35247517)

7 August 2017

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq (English)

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7 August 2017

Cremers FP

1

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7 August 2017

van de Pol TJ

2

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7 August 2017

Wieringa B

3

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7 August 2017

Hofker MH

4

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7 August 2017

Pearson PL

5

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7 August 2017

Pfeiffer RA

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7 August 2017

Mikkelsen M

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7 August 2017

Tabor A

8

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7 August 2017

Ropers HH

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7 August 2017

language of work or name

English

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publication date

1 October 1988

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American Journal of Human Genetics

7 August 2017

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7 August 2017

43

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7 August 2017

4

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7 August 2017

452-461

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Choroideremia, obesity, and congenital deafness

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

A strategy to reveal high-frequency RFLPs along the human X chromosome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

A genetic linkage map of the human genome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Regional localization of 18 human X-linked DNA sequences

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Variable number of tandem repeat (VNTR) markers for human gene mapping

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

A highly polymorphic locus in human DNA revealed by cosmid-derived probes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

The human phosphoglycerate kinase multigene family. HLA-associated sequences and an X-linked locus containing a processed pseudogene and its functional counterpart.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Accurate and superaccurate gene mapping

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

A PstI RFLP detected by probe cpX73 (DXS159) in Xq11-q12.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

The X chromosome shows less genetic variation at restriction sites than the autosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Prenatal exclusion of ornithine transcarbamylase deficiency by direct gene analysis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Identification of a de novo chromosome rearrangement in a man-mouse hybrid clone and its bearing on the cytological map of the human X chromosome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Prenatal diagnosis of human genome variation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715498

Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome

26 September 2018

1 reference

12 December 2020

Deletion of the DXS165 locus in patients with classical choroideremia

1 reference

12 December 2020

Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution

1 reference

12 December 2020

Inherited tandem duplication dup(X) (q131-q212) in a male proband

1 reference

12 December 2020

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion

1 reference

12 December 2020

Regional localization of the phosphoglycerate kinase gene and pseudogene on the human X chromosome and assignment of a related DNA sequence to chromosome 19

1 reference

12 December 2020

Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Electrophoretic separations of large DNA molecules by periodic inversion of the electric field

1 reference

12 December 2020

Choroideremia: further evidence for assignment of the locus to Xq13-Xq21

1 reference

12 December 2020

Linkage of an X-chromosome cleft palate gene

1 reference

12 December 2020

Choroideremia in interstitial deletion of the X chromosome

1 reference

12 December 2020

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region

1 reference

12 December 2020

Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome

1 reference

12 December 2020

Identifiers

PMCID

1715498

1 reference

7 August 2017

1 reference