×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.
27871447 2016
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.
19404735 2010
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.
20840352 2011
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Ataxia telangiectasia: a review.
27884168 2016
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
In our study, we have determined the ATM mutation spectrum in 19 classical A-T patients, including some immigrant populations, as well as 12 of Dutch ethnic origin.
9792409 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins.
26635394 2016
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Child with ataxia telangiectasia developing acute myeloid leukemia.
20308662 2010
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Cancer risks and mortality in heterozygous ATM mutation carriers.
15928302 2005
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.
16864838 2006
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.
21778326 2011
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia .
9521587 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.
11298136 2001
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.
12552566 2003
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion.
17968022 2007
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.
8659541 1996
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
21792198 2011
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.
23585524 2013
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?
26693373 2015
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Comprehensive scanning of the ATM gene with DOVAM-S.
12552559 2003
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
22649200 2012
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
18634022 2009
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
We analysed the ATM gene in 12 unrelated Italian A-T patients and identified all 24 mutated alleles.Twelve mutations were novel.
16941484 2006
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.
18560558 2008
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
23143971 2013
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
CLINVAR
ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T .8845835 1996