|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.
|
18560558 |
2008 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.
|
10425038 |
1999 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM.
|
16603769 |
2006 |
|
C11orf65
|
Ataxia Telangiectasia
|
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
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Rapid screen for truncating ATM mutations by PTT-ELISA.
|
18321536 |
2008 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.
|
18813293 |
2008 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
|
27664052 |
2017 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
|
22146522 |
2012 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Ataxia telangiectasia: the consequences of a delayed diagnosis.
|
21354641 |
2011 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Myoclonus in ataxia-telangiectasia.
|
25793145 |
2015 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
|
21933854 |
2012 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
|
17910737 |
2008 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
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 |
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.
|
12497634 |
2003 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
|
25980754 |
2015 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
|
16380133 |
2006 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
|
21445571 |
2011 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
|
24556621 |
2014 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.
|
15039971 |
2004 |
|
C11orf65
|
Ataxia Telangiectasia
|
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
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.
|
15390180 |
2005 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
GeneticVariation |
CLINVAR |
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
|
25133958 |
2014 |
|
C11orf65
|
Ataxia Telangiectasia
|
0.100 |
CausalMutation |
CLINVAR |
Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.
|
28007021 |
2016 |