Molecular and cytogenetic analysis of a familial microdeletion of Xq. (Q33596640)

28 July 2017

title

Molecular and cytogenetic analysis of a familial microdeletion of Xq. (English)

1 reference

28 July 2017

Wells S

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28 July 2017

Mould S

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28 July 2017

Robins D

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28 July 2017

Robinson D

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28 July 2017

Jacobs P

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28 July 2017

language of work or name

English

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publication date

1 March 1991

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

163-166

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Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

Molecular genetics of Turner's syndrome.

21 June 2018

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Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016798

Molecular studies of the parental origin and nature of human X isochromosomes

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1675684

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1675684

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27ß methylation analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1675684

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.28.3.163

1 reference

28 July 2017

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28 July 2017

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