Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21 (Q43874037)

27 November 2017

Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1511979

X-linked nonsyndromic deafness

3 October 2022

main subject

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I. Bach

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1511979

3 October 2022

D. Robinson

2

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3 October 2022

N. Thomas

3

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3 October 2022

H. H. Ropers

4

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3 October 2022

F. P. Cremers

5

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3 October 2022

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1511979

3 October 2022

publication date

1 August 1992

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27 November 2017

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27 November 2017

89

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27 November 2017

620-624

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27 November 2017

6

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https://scigraph.springernature.com/pub.10.1007/bf00221950

27 November 2017

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Choroideremia, obesity, and congenital deafness

1 reference

12 December 2020

Phenotypic evidence for a common pathogenesis in X-linked deafness pedigrees and in Xq13-q21 deletion related deafness

1 reference

12 December 2020

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with 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

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations

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

X-linked deafness, stapes gushers and a distinctive defect of the inner ear.

1 reference

12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

12 December 2020

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

1 reference

12 December 2020

DXS26 (HU16) is located in Xq21.1.

1 reference

12 December 2020

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

1 reference

12 December 2020

Cloning of a gene that is rearranged in patients with choroideraemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Completeness of catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes

1 reference

12 December 2020

Choroideremia in interstitial deletion of the X chromosome

1 reference

12 December 2020

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female

1 reference

12 December 2020

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

1 reference

12 December 2020

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

1 reference

12 December 2020

1 reference

12 December 2020

Molecular and cytogenetic analysis of a familial microdeletion of Xq.

1 reference

12 December 2020

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

1 reference

12 December 2020

Balanced X-autosomal translocation and mental retardation. Mapping mental retardation linked to X (excluding fragile X)

1 reference

12 December 2020

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

1 reference

12 December 2020

A multipedigree linkage study of X-linked deafness: Linkage to Xq13-q21 and evidence for genetic heterogeneity

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

1 reference

12 December 2020

Congenital cerebrospinal fluid pressure labyrinth

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00221950

1 reference

Dimensions Publication ID

27 November 2017

1051019832

0 references

Fatcat ID

release_pxpk4euf6barxbmknfkwm6p4ea

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/pxpk4euf6barxbmknfkwm6p4ea

24 November 2022

mapped directly with Wikidata item

1 reference