(Q41110946)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9129736%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Chromosome instability with bleomycin and X-ray hypersensitivity in a boy with Nijmegen breakage syndrome (English)

1 reference

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2 November 2019

5

1 reference

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2 November 2019

author name string

P Pérez-Vera

1

1 reference

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2 November 2019

A González-del Angel

2

1 reference

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2 November 2019

B Molina

3

1 reference

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2 November 2019

L Gómez

4

1 reference

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2 November 2019

R A Gatti

6

1 reference

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2 November 2019

A Carnevale

7

1 reference

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2 November 2019

publication date

1 May 1997

1 reference

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American Journal of Medical Genetics Part A

2 November 2019

published in

1 reference

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2 November 2019

volume

70

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2 November 2019

issue

1

1 reference

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2 November 2019

page(s)

24-27

1 reference

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

2 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970502%2970%3A1%3C24%3A%3AAID-AJMG5%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

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A unique human mutant B-lymphoblastoid cell line (ataxia telangiectasia) which exhibits increased siste-chromatid exchange retaining hypersensitivity to neocarzinostatin and bleomycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970502%2970%3A1%3C24%3A%3AAID-AJMG5%3E3.0.CO%3B2-R

Radiosensitivity in ataxia-telangiectasia: a new explanation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970502%2970%3A1%3C24%3A%3AAID-AJMG5%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Further delineation of the Nijmegen breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970502%2970%3A1%3C24%3A%3AAID-AJMG5%3E3.0.CO%3B2-R

A new chromosomal instability disorder: the Nijmegen breakage syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970502%2970%3A1%3C24%3A%3AAID-AJMG5%3E3.0.CO%3B2-R

Nijmegen Breakage syndrome: a progress report

21 January 2018

1 reference

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Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970502%2970%3A1%3C24%3A%3AAID-AJMG5%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970502%2970%3A1%3C24%3A%3AAID-AJMG5%3E3.0.CO%3B2-R

10.1002/(SICI)1096-8628(19970502)70:1<24::AID-AJMG5>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9129736%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference