(Q41927219)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

Nijmegen breakage syndrome

2 November 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

G L Marseglia

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M Stefanini

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E Prosperi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

L Chessa

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T Nardo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Marchi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

P Maraschio

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

196-202

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

Nijmegen breakage syndrome

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

G2/M-phase arrest and release in ataxia telangiectasia and normal cells after exposure to ionizing radiation.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

A new chromosomal instability disorder: the Nijmegen breakage syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Rapid, one step staining procedures for analysis of cellular DNA and protein by single and dual laser flow cytometry

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

A new chromosome instability disorder.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Tissue specificity of chromosomal rearrangements in ataxia-telangiectasia.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Heterogeneity in ataxia-telangiectasia: classical phenotype associated with intermediate cellular radiosensitivity.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

T-cell-rich B-cell lymphomas. A clinicopathologic study of 19 cases

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

Abnormal regulation of DNA replication and increased lethality in ataxia telangiectasia cells exposed to carcinogenic agents

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050892

HLA-unrestricted killing of HSV-1-infected mononuclear cells. Involvement of either gamma/delta+ or alpha/beta+ human cytotoxic T lymphocytes

18 August 2018

1 reference

12 December 2020

The p53-dependent G1 cell cycle checkpoint pathway and ataxia-telangiectasia

1 reference

12 December 2020

Modulation of radiation-induced chromosomal damage by inhibitors of DNA repair and flow cytometric analysis in ataxia telangiectasia cells with 'intermediate radiosensitivity'

1 reference

12 December 2020

Expression of the 170-kDa and 180-kDa isoforms of DNA topoisomerase II in resting and proliferating human lymphocytes

1 reference

12 December 2020

Incorporation of [3H] thymidine stimulated by ultraviolet radiation into human fibroblast cultures

1 reference

12 December 2020

Antigen-specific interaction between T and B cells

1 reference

12 December 2020

A chromosomal breakage syndrome with profound immunodeficiency

1 reference

12 December 2020

Natural cytotoxicity in the neonate: high levels of lymphokine activated killer (LAK) activity

1 reference

12 December 2020

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

1 reference

24 May 2022

https://opencitations.net/index/coci/api/v1/citations/10.1126/SCIENCE.7792600

Identifiers

DOI

10.1136/JMG.34.3.196

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

release_bexyd6gaxjdlhju7hjzs3sasie

2 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bexyd6gaxjdlhju7hjzs3sasie

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9132489%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

9132489

1 reference