The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21 (Q35238845)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042920%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042920%20AND%20SRC:MED&resulttype=core&format=json

Nijmegen breakage syndrome

1 November 2019

main subject

1 reference

based on heuristic

inferred from title

ataxia-telangiectasia variant

1 reference

1

1 reference

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1 November 2019

9

Reis A

1 reference

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1 November 2019

author name string

Chrzanowska KH

2

1 reference

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1 November 2019

Stumm M

3

1 reference

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1 November 2019

Jung M

4

1 reference

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1 November 2019

Nürnberg G

5

1 reference

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1 November 2019

Wienker TF

6

1 reference

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1 November 2019

Seemanová E

7

1 reference

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1 November 2019

Wegner RD

8

1 reference

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1 November 2019

Sperling K

10

1 reference

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1 November 2019

language of work or name

English

0 references

publication date

1 March 1997

1 reference

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American Journal of Human Genetics

1 November 2019

published in

1 reference

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1 November 2019

volume

60

1 reference

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1 November 2019

page(s)

605-610

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1 November 2019

issue

3

1 reference

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Nijmegen breakage syndrome

1 November 2019

cites work

1 reference

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Integration of the cytogenetic, genetic, and physical maps of the human genome by FISH mapping of CEPH YAC clones

13 July 2018

1 reference

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Chromosomal mapping of the human genes CKS1 to 8q21 and CKS2 to 9q22

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

The gene for Nijmegen breakage syndrome (V2) is not located on chromosome 11

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

Crystal structure and mutational analysis of the human CDK2 kinase complex with cell cycle-regulatory protein CksHs1

13 July 2018

1 reference

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

13 July 2018

1 reference

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An STS-based map of the human genome

13 July 2018

1 reference

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Complementation analysis in ataxia telangiectasia: fibroblast-lymphoblastoid cell heterokaryon assay by radiation-induced chromosome aberrations

13 July 2018

1 reference

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A single ataxia telangiectasia gene with a product similar to PI-3 kinase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion

13 July 2018

1 reference

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Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder

13 July 2018

1 reference

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Patients with an inherited syndrome characterized by immunodeficiency, microcephaly, and chromosomal instability: genetic relationship to ataxia telangiectasia.

13 July 2018

1 reference

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A new chromosomal instability disorder confirmed by complementation studies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

Further delineation of the Nijmegen breakage syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712504

A haplotype-based 'haplotype relative risk' approach to detecting allelic associations.

13 July 2018

1 reference

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Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations.

13 July 2018

1 reference

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Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9042920

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9042920%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference