Variant forms of ataxia telangiectasia (Q33676212)

28 July 2017

Variant forms of ataxia telangiectasia (English)

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28 July 2017

ataxia telangiectasia

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Taylor AM

1

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28 July 2017

Flude E

2

1 reference

28 July 2017

Laher B

3

1 reference

28 July 2017

Stacey M

4

1 reference

28 July 2017

McKay E

5

1 reference

28 July 2017

Watt J

6

1 reference

28 July 2017

Green SH

7

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28 July 2017

Harding AE

8

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28 July 2017

language of work or name

English

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publication date

1 November 1987

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Journal of Medical Genetics

28 July 2017

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28 July 2017

24

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28 July 2017

11

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28 July 2017

669-677

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Survey of radiosensitivity in a variety of human cell strains.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

A new chromosomal instability disorder: the Nijmegen breakage syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Complementation of the defects of DNA synthesis in irradiated and unirradiated ataxia-telangiectasia cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Radiosensitivity in ataxia-telangiectasia: a new explanation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Disorders of B cells and helper T cells in the pathogenesis of the immunoglobulin deficiency of patients with ataxia telangiectasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Abnormal response of ataxia-telangiectasia cells to agents that break the deoxyribose moiety of DNA via a targeted free radical mechanism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Clinical and immunological studies in twenty families with ataxia-telangiectasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

A derivative of an ataxia-telangiectasia (A-T) cell line with normal radiosensitivity but A-T-like inhibition of DNA synthesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Ataxia telangiectasia. Evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Karyotype instability with multiple 7/14 and 7/7 rearrangements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Unusual levels of (ADP-ribose)n and DNA synthesis in ataxia telangiectasia cells following gamma-ray irradiation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050344

Presumed ataxia-telangiectasia in a man

30 October 2018

1 reference

12 December 2020

Spontaneous cytogenetic abnormalities in lymphocytes from thirteen patients with ataxia telangiectasia

1 reference

12 December 2020

Bleomycin induced inhibition of DNA synthesis in ataxia-telangiectasia cell lines

1 reference

12 December 2020

Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia

1 reference

12 December 2020

Effects of the DNA strand-cleaving antitumor agent, streptonigrin, on ataxia telangiectasia cells

1 reference

12 December 2020

Variant of ataxia-telangiectasia with low-level radiosensitivity

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.24.11.669

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PMCID

1050344

1 reference

28 July 2017

1 reference