(Q41107570)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

Nijmegen breakage syndrome

4 November 2019

main subject

1 reference

10

1 reference

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4 November 2019

author name string

Matsuura S

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Weemaes C

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Smeets D

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Takami H

4

1 reference

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4 November 2019

Kondo N

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Sakamoto S

6

1 reference

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4 November 2019

Yano N

7

1 reference

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4 November 2019

Nakamura A

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Tauchi H

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Oshimura M

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

Komatsu K

12

1 reference

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4 November 2019

language of work or name

English

0 references

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 November 2019

published in

1 reference

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4 November 2019

volume

60

1 reference

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4 November 2019

issue

6

1 reference

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4 November 2019

page(s)

1487-1494

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

Nijmegen breakage syndrome

4 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=1716114

Mutations associated with variant phenotypes in ataxia-telangiectasia

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Positional cloning of the Werner's syndrome gene

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Functional complementation in mouse-human radiation hybrids assigns the putative murine scid gene to the pericentric region of human chromosome 8.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Expression cloning of multiple human cDNAs that complement the phenotypic defects of ataxia-telangiectasia group D fibroblasts

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

A new chromosomal instability disorder: the Nijmegen breakage syndrome

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Monoclonal antibodies against human factor VIII molecular neutralize antihemophilic factor and ristocetin cofactor activities.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Chromosome sublocalization of a cDNA for human DNA polymerase-beta to 8p11----p12.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Correction of radiation sensitivity in ataxia telangiectasia cells by a truncated I kappa B-alpha

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

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

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

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

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Irradiation microcell-mediated chromosome transfer (XMMCT): the generation of specific chromosomal arm deletions

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Restoration of radiation resistance in ataxia telangiectasia cells by the introduction of normal human chromosome 11.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Studies on phenotypic complementation of ataxia-telangiectasia cells by chromosome transfer.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

Physical mapping of human chromosome 17 using fragment-containing microcell hybrids

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716114

A chromosomal breakage syndrome with profound immunodeficiency

19 August 2018

1 reference

12 December 2020

Lack of correlation between radiosensitivity and inhibition of DNA synthesis in hybrids (A-T x HeLa)

1 reference

12 December 2020

Functional complementation studies with X-ray-sensitive mutants of Chinese hamster cells closely resembling ataxia-telangiectasia cells

1 reference

12 December 2020

Functional Complementation Studies with X-ray-sensitive Mutants of Chinese Hamster Cells Closely Resembling Ataxia-telangiectasia Cells.

1 reference

12 December 2020

Identifiers

DOI

10.1086/515461

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

9199571

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9199571%20AND%20SRC:MED&resulttype=core&format=json