Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21 (Q24677549)

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29 September 2019

title

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21 (English)

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29 September 2019

1 reference

8

F S Collins

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29 September 2019

author name string

D E Merry

1

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29 September 2019

J G Lesko

2

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29 September 2019

D M Sosnoski

3

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29 September 2019

R A Lewis

4

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29 September 2019

M Lubinsky

5

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29 September 2019

B Trask

6

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29 September 2019

G van den Engh

7

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29 September 2019

R L Nussbaum

9

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29 September 2019

language of work or name

English

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publication date

1 October 1989

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American Journal of Human Genetics

29 September 2019

published in

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29 September 2019

volume

45

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29 September 2019

issue

4

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29 September 2019

page(s)

530-540

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

29 September 2019

cites work

1 reference

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Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ

7 April 2017

1 reference

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Choroideremia, obesity, and congenital deafness

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

7 April 2017

1 reference

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Choroideremia; clinical and genetic aspects

7 April 2017

1 reference

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

28 September 2017

1 reference

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Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

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

28 September 2017

1 reference

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Construction of a general human chromosome jumping library, with application to cystic fibrosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Preparation and bivariate analysis of suspensions of human chromosomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Improved resolution of flow cytometric measurements of Hoechst- and chromomycin-A3-stained human chromosomes after addition of citrate and sulfite

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

X-linked deafness in a South African kindred

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Separation of large DNA molecules by contour-clamped homogeneous electric fields

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

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

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683514

Choroideremia-locus maps between DXS3 and DXS11 on Xq

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Choroideremia in interstitial deletion of the X chromosome

1 reference

12 December 2020

Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence

1 reference

12 December 2020

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

1 reference

12 December 2020

Deletion of the DXS165 locus in patients with classical choroideremia

1 reference

12 December 2020

The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK

1 reference

12 December 2020

Report of the committee on the genetic constitution of the X chromosome

1 reference

12 December 2020

Report of the committee on the genetic constitution of the X and Y chromosomes

1 reference

12 December 2020

X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2491012%20AND%20SRC:MED&resulttype=core&format=json

29 September 2019

PubMed publication ID

2491012

1 reference