Condition: Ataxia Telangiectasia


rs1057516238 in ATM gene and Ataxia Telangiectasia PMID 25614872 2014 Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

PMID 23807571 2013 Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

PMID 19781682 2009 Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

PMID 23585524 2013 ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

PMID 21665257 2011 Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

PMID 18321536 2008 Rapid screen for truncating ATM mutations by PTT-ELISA.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 10330348 1999 Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

PMID 10425038 1999 New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PMID 22006793 2012 Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

PMID 27884168 2016 Ataxia telangiectasia: a review.

PMID 9711876 1998 ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 14695534 2004 Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.

PMID 9887333 1999 Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PMID 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

PMID 18497957 2008 Contribution of mutations in ATM to breast cancer development in the Czech population.

PMID 16411093 2006 Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 9463314 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PMID 27671921 2016 Ataxia telangiectasia associated with nodular regenerative hyperplasia.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 25037873 2014 Cognitive phenotype in ataxia-telangiectasia.

PMID 9792409 1998 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PMID 9682216 1998 A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

PMID 30482293 2019 A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.

PMID 12655570 2003 Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 25122203 2014 The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.

PMID 16387360 2006 Development of a mantle cell lymphoma in an ATM heterozygous woman after occupational exposure to ionising radiation and somatic mutation of the second allele.

PMID 19147735 2009 Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.

PMID 21933854 2012 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.

PMID 16014569 2005 Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL.

PMID 17968022 2007 Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion.

PMID 16864838 2006 Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

PMID 27871447 2016 Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

PMID 27873105 2017 Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

PMID 21833744 2011 Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

PMID 16941484 2006 ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

PMID 15880721 2005 ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

PMID 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 15039971 2004 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

PMID 10873394 2000 Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

PMID 9450906 1998 Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.

PMID 27980538 2016 Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 21792198 2011 Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

PMID 9121450 1997 Fragments of ATM which have dominant-negative or complementing activity.

PMID 16832357 2006 ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles.

PMID 15101044 2004 Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

PMID 17699107 2007 Ataxia telangiectasia-mutated dependent DNA damage checkpoint functions regulate gene expression in human fibroblasts.

PMID 12637545 2003 Chromium (VI) activates ataxia telangiectasia mutated (ATM) protein. Requirement of ATM for both apoptosis and recovery from terminal growth arrest.

PMID 8968760 1996 Ataxia-telangiectasia: founder effect among north African Jews.

PMID 27084275 2016 Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.

PMID 8797579 1996 ATM mutations in cancer families.

PMID 9443866 1998 Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PMID 9781027 1998 Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.

PMID 9537233 1998 The role of ataxia-telangiectasia heterozygotes in familial breast cancer.

PMID 22071889 2012 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

PMID 21965147 2011 New mutations in the ATM gene and clinical data of 25 AT patients.

PMID 27599564 2016 Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

PMID 11889466 2002 A new type of mutation causes a splicing defect in ATM.

PMID 10234507 1999 Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

PMID 7792600 1995 A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

PMID 8789452 1996 Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PMID 19431188 2009 Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

PMID 9521587 1998 A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

PMID 9150358 1997 Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.

PMID 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PMID 8589678 1995 The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

PMID 9872980 1998 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

PMID 9450874 1998 Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.

PMID 9497252 1998 Genotype-phenotype relationships in ataxia-telangiectasia and variants.

PMID 15164409 2004 In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan).

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 23612382 2013 Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 25303977 2014 Mutational landscape of aggressive cutaneous squamous cell carcinoma.

PMID 24789685 2014 Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

PMID 12497634 2003 ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

PMID 9000145 1996 Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.

PMID 16266405 2005 ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

PMID 22213089 2012 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 24512911 2014 Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas.

PMID 22585167 2012 ATM mutations in patients with hereditary pancreatic cancer.

PMID 21787400 2011 Rare variants in the ATM gene and risk of breast cancer.

PMID 15843990 2005 ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 28152038 2017 Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

PMID 11606401 2001 Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.

PMID 18384426 2008 ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

PMID 10864201 2000 ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.

PMID 25077176 2014 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.

PMID 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

PMID 22649200 2012 Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

PMID 15928302 2005 Cancer risks and mortality in heterozygous ATM mutation carriers.

PMID 12072877 2002 Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

PMID 18502988 2008 ATM gene variants in patients with idiopathic perifoveal telangiectasia.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 23726790 2013 Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 20308662 2010 Child with ataxia telangiectasia developing acute myeloid leukemia.

PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 25101980 2014 Deoxycytidine kinase augments ATM-Mediated DNA repair and contributes to radiation resistance.

PMID 23652012 2013 SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.

PMID 11298136 2001 Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.

PMID 23143971 2013 Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.

PMID 20852892 2010 The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.

PMID 27484032 2016 Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 22763152 2013 Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.

PMID 14970866 2004 Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.

PMID 25502423 2014 Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 26662178 2016 Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.

PMID 21445571 2011 Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

PMID 9600235 1998 Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.

PMID 2491181 1989 ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

PMID 12673797 2003 Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 23566627 2013 Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

PMID 24090759 2013 Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

PMID 10677309 2000 ATM-heterozygous germline mutations contribute to breast cancer-susceptibility.

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

PMID 28956312 2017 Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017).

PMID 23454770 2013 p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

PMID 17376192 2007 Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 24422204 2014 Ataxia-telangiectasia with novel splicing mutations in the ATM gene.

PMID 22146522 2012 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

PMID 22527104 2012 Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

PMID 17910737 2008 Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

PMID 26439923 2015 Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

PMID 22529920 2012 Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

PMID 11756177 2002 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.

PMID 26506520 2015 Prevalence of deleterious ATM germline mutations in gastric cancer patients.

PMID 18634022 2009 Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

PMID 23264026 2013 Newborn screening for SCID identifies patients with ataxia telangiectasia.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 26534844 2016 Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

PMID 24172824 2014 Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia.

PMID 22130802 2012 Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.

PMID 26098866 2015 Loss-of-function variants in ATM confer risk of gastric cancer.

PMID 19404735 2010 ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

PMID 23561644 2013 Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer.

PMID 25479140 2015 Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer.

PMID 20840352 2011 Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

PMID 23774824 2013 A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

PMID 21681852 2011 Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

PMID 11526498 2001 Activation of p53 transcriptional activity requires ATM's kinase domain and multiple N-terminal serine residues of p53.

PMID 21593342 2011 Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia.

PMID 27528516 2016 Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

PMID 22927201 2012 A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

PMID 27989354 2017 Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.

PMID 20678261 2010 Low levels of ATM in breast cancer patients with clinical radiosensitivity.

PMID 18174244 2008 Resveratrol modulates DNA double-strand break repair pathways in an ATM/ATR-p53- and -Nbs1-dependent manner.

PMID 21459046 2011 Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.

PMID 25625042 2015 ATM gene mutations in sporadic breast cancer patients from Brazil.

PMID 15054841 2004 Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

PMID 19535770 2009 Clinical spectrum of ataxia-telangiectasia in adulthood.

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 16189143 2005 Molecular pathology of ataxia telangiectasia.

PMID 29665859 2018 Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

rs1057516282 in ATM;C11orf65 gene and Ataxia Telangiectasia PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 23632773 2013 Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 23807571 2013 Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

PMID 25614872 2014 Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

PMID 19781682 2009 Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 14970866 2004 Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.

PMID 22213089 2012 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

PMID 9792409 1998 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PMID 9150358 1997 Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.

PMID 9443866 1998 Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 19431188 2009 Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

PMID 7792600 1995 A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 10234507 1999 Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PMID 8789452 1996 Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

PMID 8589678 1995 The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

PMID 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PMID 9887333 1999 Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PMID 9497252 1998 Genotype-phenotype relationships in ataxia-telangiectasia and variants.

PMID 9463314 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PMID 9450874 1998 Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.

PMID 9872980 1998 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

PMID 9711876 1998 ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

PMID 9521587 1998 A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 18560558 2008 Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.

PMID 26628246 2016 Novel ATM mutations with ataxia-telangiectasia.

PMID 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

PMID 20966255 2010 ATM activation by oxidative stress.

PMID 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

PMID 21459046 2011 Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 9600235 1998 Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5.

PMID 23322442 2013 Molecular defects in Moroccan patients with ataxia-telangiectasia.

PMID 23946315 2013 Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

PMID 26436112 2015 Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.

PMID 21787400 2011 Rare variants in the ATM gene and risk of breast cancer.

PMID 22146522 2012 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.

PMID 8698354 1996 New mutations in the ataxia telangiectasia gene.

PMID 17910737 2008 Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

PMID 11298136 2001 Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.

PMID 21445571 2011 Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

PMID 21792198 2011 Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

PMID 8659541 1996 Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

PMID 10330348 1999 Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

PMID 9000145 1996 Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.

PMID 25503501 2015 Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

PMID 28007021 2016 Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations.

PMID 22585167 2012 ATM mutations in patients with hereditary pancreatic cancer.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 25032865 2014 Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 21933854 2012 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.

PMID 11756185 2002 Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage.

PMID 10425038 1999 New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 15880721 2005 ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

PMID 16266405 2005 ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

PMID 12646636 2003 ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region.

PMID 21833744 2011 Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

PMID 15039971 2004 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

PMID 25374739 2013 A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome.

PMID 21665257 2011 Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

PMID 10873394 2000 Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

PMID 18634022 2009 Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

PMID 22017321 2012 Neuropathology in classical and variant ataxia-telangiectasia.

PMID 23532176 2013 The ATM signaling network in development and disease.

PMID 25460276 2014 PIKKs--the solenoid nest where partners and kinases meet.

PMID 26693373 2015 Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?

PMID 23585368 2013 Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 23774824 2013 A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

PMID 18321536 2008 Rapid screen for truncating ATM mutations by PTT-ELISA.

PMID 23585524 2013 ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.

PMID 19404735 2010 ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.

PMID 18573109 2008 Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.

PMID 17968022 2007 Mutation status of the residual ATM allele is an important determinant of the cellular response to chemotherapy and survival in patients with chronic lymphocytic leukemia containing an 11q deletion.

PMID 12697903 2003 Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

PMID 11756177 2002 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.

PMID 12552566 2003 Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.

PMID 15101044 2004 Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

PMID 10397742 1999 Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.

PMID 24789685 2014 Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

PMID 11805335 2002 Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

PMID 17376192 2007 Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study.

PMID 16864838 2006 Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia.

PMID 19535770 2009 Clinical spectrum of ataxia-telangiectasia in adulthood.

PMID 25957637 2015 Clinical variability in ataxia-telangiectasia.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 2557216 1989 "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""."

PMID 21965147 2011 New mutations in the ATM gene and clinical data of 25 AT patients.

PMID 21354641 2011 Ataxia telangiectasia: the consequences of a delayed diagnosis.

PMID 15279808 2005 Functional consequences of sequence alterations in the ATM gene.

PMID 19605768 2009 Ataxia-telangiectasia: without ataxia or telangiectasia?

PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 25793145 2015 Myoclonus in ataxia-telangiectasia.

PMID 20346647 2010 Discovering moderate-risk breast cancer susceptibility genes.

PMID 22649200 2012 Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

PMID 29015585 1953 Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 20840352 2011 Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

PMID 16238588 2005 Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.

PMID 11382771 2001 Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 15174027 2004 Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.

PMID 26915675 2016 Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

PMID 12883528 2003 HSV-1 amplicon vector-mediated expression of ATM cDNA and correction of the ataxia-telangiectasia cellular phenotype.

PMID 25133958 2014 Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 28779002 2017 Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

PMID 27599564 2016 Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.

PMID 15390180 2005 Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 22071889 2012 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

PMID 18431795 2008 A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.

PMID 22895193 2012 Recurrent R-spondin fusions in colon cancer.

PMID 18813293 2008 Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.

PMID 23454770 2013 p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

rs1018140779 in C11orf65;ATM gene and Ataxia Telangiectasia PMID 23807571 2013 Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

PMID 10330348 1999 Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

PMID 25614872 2014 Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 8789452 1996 Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

PMID 9000145 1996 Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.

PMID 9872980 1998 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.

PMID 8808599 1996 A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

PMID 27664052 2017 Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

PMID 8589678 1995 The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

PMID 8755918 1996 Mutations associated with variant phenotypes in ataxia-telangiectasia.

PMID 9443866 1998 Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

PMID 7792600 1995 A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

PMID 9497252 1998 Genotype-phenotype relationships in ataxia-telangiectasia and variants.

PMID 9521587 1998 A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.

PMID 9463314 1998 ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

PMID 8845835 1996 Predominance of null mutations in ataxia-telangiectasia.

PMID 9450874 1998 Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.

PMID 9150358 1997 Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.

PMID 10234507 1999 Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.

PMID 9043869 1996 Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

PMID 9711876 1998 ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.

PMID 9792409 1998 ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.

PMID 9887333 1999 Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

PMID 10817650 2000 Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.

PMID 19431188 2009 Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

PMID 15101044 2004 Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

PMID 12497634 2003 ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 12673797 2003 Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

PMID 23454770 2013 p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 14970866 2004 Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers.

PMID 21833744 2011 Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

PMID 14586414 2003 DNA damage-induced cell-cycle phase regulation of p53 and p21waf1 in normal and ATM-defective cells.

PMID 12815592 2003 Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

PMID 10864201 2000 ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.

PMID 20153123 2010 DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities.

PMID 27159176 2016 Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.

PMID 16266405 2005 ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

PMID 26506520 2015 Prevalence of deleterious ATM germline mutations in gastric cancer patients.

PMID 22585167 2012 ATM mutations in patients with hereditary pancreatic cancer.

PMID 10980530 2000 Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.

PMID 15390180 2005 Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families.

PMID 12810666 2003 Contributions of ATM mutations to familial breast and ovarian cancer.

PMID 20050888 2010 EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

PMID 24418350 2014 EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.

PMID 26628246 2016 Novel ATM mutations with ataxia-telangiectasia.

PMID 19691550 2009 Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

PMID 23671275 2013 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).

PMID 16603769 2006 The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM.

PMID 18560558 2008 Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia.

PMID 26246601 2015 Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognition.

PMID 19781682 2009 Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

PMID 18321536 2008 Rapid screen for truncating ATM mutations by PTT-ELISA.

PMID 26635394 2016 RBP-Var: a database of functional variants involved in regulation mediated by RNA-binding proteins.

PMID 25122203 2014 The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.

PMID 22213089 2012 Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

PMID 15054841 2004 Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.

PMID 25037873 2014 Cognitive phenotype in ataxia-telangiectasia.

PMID 19535770 2009 Clinical spectrum of ataxia-telangiectasia in adulthood.

PMID 10873394 2000 Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.

PMID 21787400 2011 Rare variants in the ATM gene and risk of breast cancer.

PMID 22529920 2012 Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

PMID 27595995 2016 PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

PMID 9463314 1998 We report, in two A-T families, an ATM mutation (7271T-->G) that may be associated with an increased risk of breast cancer in both homozygotes and heterozygotes (relative risk 12.7; P=.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 18575927 2008 Attenuated presentation of ataxia-telangiectasia with familial cancer history.

PMID 18634022 2009 Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

PMID 17001622 2006 Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling.

PMID 11382771 2001 The kinetics of p53 response was intermediate between normal and classical ataxia telangiectasia cells in both the 7271T-->G and 5762ins137 cells, but interestingly, c-Jun kinase activation following DNA damage was equally deficient in cell lines derived from all the ataxia telangiectasia patients.

PMID 11830610 2002 Dominant negative ATM mutations in breast cancer families.

PMID 16958054 2006 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.

PMID 21965147 2011 New mutations in the ATM gene and clinical data of 25 AT patients.

PMID 15039971 2004 Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 25077176 2014 We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described.

PMID 25914063 2015 Ataxia-telangiectasia with female fertility.

PMID 22345219 2012 Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.

PMID 8659541 1996 Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 11505391 2001 Increased frequency of ATM mutations in breast carcinoma patients with early onset disease and positive family history.

PMID 15843990 2005 ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.

PMID 16380133 2006 Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.

PMID 18504682 2008 Different clinical and immunological presentation of ataxia-telangiectasia within the same family.

PMID 12552559 2003 Comprehensive scanning of the ATM gene with DOVAM-S.

PMID 23264026 2013 Newborn screening for SCID identifies patients with ataxia telangiectasia.

PMID 23640770 2013 Isolated generalized dystonia in biallelic missense mutations of the ATM gene.

PMID 22649200 2012 Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.

PMID 8797579 1996 ATM mutations in cancer families.

PMID 12195425 2002 Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.

PMID 11805335 2002 Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.

PMID 11382771 2001 Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

PMID 21933854 2012 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.

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

PMID 17124347 2006 DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

PMID 10425038 1999 New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.

PMID 18807267 2009 We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations.

PMID 15880721 2005 ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

PMID 18497957 2008 Contribution of mutations in ATM to breast cancer development in the Czech population.

PMID 24451234 2014 MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

PMID 16266405 2005 The Mennonite mutation, 5932 G>T, is common in Russian A-T families, and the STR haplovariants are the same in both Poland and Russia.

PMID 26677768 2015 Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line.

PMID 18573109 2008 Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 11857346 2002 TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.

PMID 16941484 2006 ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

PMID 15928302 2005 Cancer risks and mortality in heterozygous ATM mutation carriers.

PMID 26094658 2015 Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

PMID 12552566 2003 The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.

PMID 9488043 1998 ATM is usually rearranged in T-cell prolymphocytic leukaemia.

PMID 10706620 2000 Mantle cell lymphoma is characterized by inactivation of the ATM gene.

PMID 9334731 1997 Biallelic mutations in the ATM gene in T-prolymphocytic leukemia.

PMID 21459046 2011 Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 21665257 2011 Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.

PMID 21792198 2011 Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

PMID 23632773 2013 Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

PMID 27913932 2017 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

PMID 22071889 2012 Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

PMID 17910737 2008 Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

PMID 10534763 1999 Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.

PMID 27873105 2017 Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

PMID 12969974 2004 Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 23142947 2013 Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12552566 2003 Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.

PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.