|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
|
27664052 |
2017 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.
|
27989354 |
2017 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
|
24418350 |
2014 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
|
21792198 |
2011 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Low levels of ATM in breast cancer patients with clinical radiosensitivity.
|
20678261 |
2010 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive scanning of the ATM gene with DOVAM-S.
|
12552559 |
2003 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
|
10234507 |
1999 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
|
9521587 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
|
9463314 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.
|
9450874 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
|
9497252 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
|
9792409 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
|
9711876 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
|
9443866 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
|
9150358 |
1997 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.
|
8789452 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
|
8808599 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Predominance of null mutations in ataxia-telangiectasia.
|
8845835 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.
|
9043869 |
1996 |