New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation (Q33603056)

28 July 2017

title

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation (English)

1 reference

T-cell acute lymphoblastic leukemia

28 July 2017

main subject

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Kwame Anyane-Yeboa

4

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Shan Zha

9

object named as

Shan Zha

1 reference

28 July 2017

Jasmin Roohi

1

1 reference

28 July 2017

Jennifer Crowe

2

1 reference

28 July 2017

Denis Loredan

3

1 reference

28 July 2017

Mahesh M Mansukhani

5

1 reference

28 July 2017

Lenore Omesi

6

1 reference

28 July 2017

Jennifer Levine

7

1 reference

28 July 2017

Anya Revah Politi

8

1 reference

28 July 2017

publication date

26 January 2017

1 reference

Journal of Human Genetics

28 July 2017

published in

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28 July 2017

volume

62

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28 July 2017

issue

5

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28 July 2017

page(s)

581-584

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The genetics and mechanisms of T cell acute lymphoblastic leukaemia

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

ATM Mutations in Cancer: Therapeutic Implications

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Treatment of acute leukemia in children with ataxia telangiectasia (A-T).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM 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=5404952

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Clinical application of exome sequencing in undiagnosed genetic conditions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

LOVD v.2.0: the next generation in gene variant databases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

ATM-deficient thymic lymphoma is associated with aberrant tcrd rearrangement and gene amplification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Crystal structure of DNA-PKcs reveals a large open-ring cradle comprised of HEAT repeats

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Chromatin relaxation in response to DNA double-strand breaks is modulated by a novel ATM- and KAP-1 dependent pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Molecular pathology of 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=5404952

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

Use of a simple method for the Epstein-Barr virus transformation of lymphocytes from members of large families of Réunion Island

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5404952

21 June 2018

Identifiers

DOI

10.1038/JHG.2017.6

1 reference

release_2wpknysawvgsfg3uc36rhpq6ge

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2wpknysawvgsfg3uc36rhpq6ge

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

5404952

1 reference

28 July 2017

1 reference