Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations
about
SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic modelsAtaxia telangiectasia: a reviewMolecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-TelangiectasiaVariance in disease risk: rural populations and genetic diversity.Cancer risk and the ATM gene: a continuing debate.Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene.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 radiotoxicityHigh-throughput binding analysis determines the binding specificity of ASF/SF2 on alternatively spliced human pre-mRNAs.Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Low cancer incidence rates in Ohio Amish.Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Breast cancer susceptibility and the DNA damage response.Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancerIdentification of ATM mutations in Korean siblings with ataxia-telangiectasiaATM mutations in patients with hereditary pancreatic cancerDetection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.Advances in primary immunodeficiency diseases in Latin America: epidemiology, research, and perspectives.TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.ATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based assay.New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.Molecular defects in Moroccan patients with ataxia-telangiectasia.Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.NS22: a highly polymorphic complex microsatellite marker within the ATM gene.A mark on the arm: myths of carrier status in sibs of individuals with ataxia-telangiectasia.Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography.Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families.Ataxia telangiectasia syndrome: moonlighting ATM.Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.ATM Gene Mutation Detection Techniques and Functional Analysis.
P2860
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P2860
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@ast
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@en
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@nl
type
label
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@ast
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@en
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@nl
prefLabel
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@ast
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@en
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@nl
P2093
P2860
P356
P1476
Ataxia-telangiectasia: identif ...... ATM gene in ethnic populations
@en
P2093
E Bernatowska-Matuszkiewicz
M Watanabe
S Castellvi-Bel
P2860
P356
10.1086/301673
P407
P577
1998-01-01T00:00:00Z