(Q34384704)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Genotype-phenotype relationships in ataxia-telangiectasia and variants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Maria Piane

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

S Gilad

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

L Chessa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

R Khosravi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P Russell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

R A Gatti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

T J Jorgensen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Y Shiloh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

A Bar-Shira

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

1 March 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

551-561

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart

10 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=1376949

The ATM gene and protein: possible roles in genome surveillance, checkpoint controls and cellular defence against oxidative stress

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Recombinant ATM protein complements the cellular A-T phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

The genetic defect in ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Responses to DNA damage and regulation of cell cycle checkpoints by the ATM protein kinase family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Defective signaling through the B cell antigen receptor in Epstein-Barr virus-transformed ataxia-telangiectasia cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Analysis of the ATM protein in wild-type and ataxia telangiectasia cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Ataxia-telangiectasia: founder effect among north African Jews

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Ataxia-telangiectasia and the ATM gene: linking neurodegeneration, immunodeficiency, and cancer to cell cycle checkpoints

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Defects in RNA splicing and the consequence of shortened translational reading frames

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Mutations associated with variant phenotypes in ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

The ATM gene and the radiobiology of ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Atypical clinical presentation of ataxia telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Cellular radiosensitivity in ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Clinical and genetic features of ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Nijmegen Breakage syndrome: a progress report

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Human cDNA clones that modify radiomimetic sensitivity of ataxia-telangiectasia (group A) cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Control of p70 s6 kinase by kinase activity of FRAP in vivo

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Ataxia-telangiectasia: closer to unraveling the mystery

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

A catalogue of splice junction sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Radiosensitivity in ataxia-telangiectasia: a new explanation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Ataxia telangiectasia. Case report of a benign variant with telangiectasia recurrent infection and low IgA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Variant forms of ataxia telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Ataxia telangiectasia in a brother and sister at older age.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Identification of ataxia telangiectasia heterozygotes, a cancer prone population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Predominance of null mutations in ataxia-telangiectasia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376949

Chromosomal radiation sensitivity in ataxia telangiectasia long-term lymphoblastoid cell lines

27 October 2018

1 reference

12 December 2020

Ataxia-without-telangiectasia. Progressive multisystem degeneration with IgE deficiency and chromosomal instability

1 reference

12 December 2020

Variant of ataxia-telangiectasia with low-level radiosensitivity

1 reference

12 December 2020

Ataxia-telangiectasia: a variant with altered in vitro phenotype of fibroblast cells

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

Genomic Organization of the ATM gene

1 reference

12 December 2020

New mutations in the ataxia telangiectasia gene

1 reference

12 December 2020

Defect in multiple cell cycle checkpoints in ataxia-telangiectasia postirradiation

1 reference

12 December 2020

The product of the ATM gene is a 370-kDa nuclear phosphoprotein

1 reference

12 December 2020

Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia

1 reference

12 December 2020

Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14

1 reference

12 December 2020

Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases

1 reference

12 December 2020

Ataxia without telangiectasia

1 reference

12 December 2020

Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay

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

Cellular radiosensitivity tn ataxia-telangiectasia.

1 reference

12 December 2020

Nijmegen Breakage Syndrome: a progress report

1 reference

12 December 2020

Clinical and genetic features of ataxia-telangiectasia

1 reference

12 December 2020

Identifiers

DOI

10.1086/301755

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497252%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference