|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.
|
10397742 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.
|
10416970 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
|
10425038 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
|
10425038 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.
|
10534763 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations.
|
10607471 |
1999 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
|
10864201 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
|
11382771 |
2001 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
|
11382771 |
2001 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.
|
11505391 |
2001 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.
|
11756177 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.
|
11805335 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Dominant negative ATM mutations in breast cancer families.
|
11830610 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
ATM mutations in Finnish breast cancer patients.
|
11897822 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
ATM mutations in Finnish breast cancer patients.
|
11897822 |
2002 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
ATM mutations are associated with inactivation of the ARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma.
|
12149228 |
2002 |