|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
|
24556621 |
2014 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
|
25122203 |
2014 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.
|
24506781 |
2014 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
|
25077176 |
2014 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
|
23566627 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).
|
23211698 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.
|
23585524 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
|
23143971 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
|
23946315 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
|
23454770 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
|
23632773 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Molecular defects in Moroccan patients with ataxia-telangiectasia.
|
23322442 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
|
23640770 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.
|
23585368 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
|
23946315 |
2013 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
|
22006793 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
|
22649200 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
|
22146522 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
|
22213089 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
|
22006793 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
|
C11orf65
|
Neoplastic Syndromes, Hereditary
|
0.100 |
GeneticVariation |
CLINVAR |
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
|
22345219 |
2012 |