|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
PIKKs--the solenoid nest where partners and kinases meet.
|
25460276 |
2014 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide.
|
29015585 |
1953 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
|
9711876 |
1998 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
|
25122203 |
2014 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.
|
12673797 |
2003 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.
|
25330149 |
2015 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Cancer risks and mortality in heterozygous ATM mutation carriers.
|
15928302 |
2005 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
|
9497252 |
1998 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome.
|
25374739 |
2013 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
NMR- and circular dichroism-monitored lipid binding studies suggest a general role for the FATC domain as membrane anchor of phosphatidylinositol 3-kinase-related kinases (PIKK).
|
23671275 |
2013 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.
|
16238588 |
2005 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Comprehensive scanning of the ATM gene with DOVAM-S.
|
12552559 |
2003 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Attenuated presentation of ataxia-telangiectasia with familial cancer history.
|
18575927 |
2008 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency.
|
25032865 |
2014 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Cognitive phenotype in ataxia-telangiectasia.
|
25037873 |
2014 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
|
22213089 |
2012 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.
|
24789685 |
2014 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
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 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
|
21792198 |
2011 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry.
|
16958054 |
2006 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.
|
15843990 |
2005 |