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Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Viral Burden and Clearance in Asymptomatic COVID-19 Patients.
- Published in:
- Open Forum Infectious Diseases, 2022, v. 9, n. 5, p. 1, doi. 10.1093/ofid/ofac126
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- Publication type:
- Article
A proposed bailout for A-T patients?
- Published in:
- 2009
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- Publication type:
- Editorial
Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4+ and CD8+ T lymphocytes is ATM-independent.
- Published in:
- International Immunology, 2000, v. 12, n. 6, p. 927, doi. 10.1093/intimm/12.6.927
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- Publication type:
- Article
The Inherited Basis of Human Radiosensitivity.
- Published in:
- Acta Oncologica, 2001, v. 40, n. 6, p. 702, doi. 10.1080/02841860152619115
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- Publication type:
- Article
Ataxia-telangiectasia with female fertility.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1937, doi. 10.1002/ajmg.a.37084
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- Publication type:
- Article
ATM-dependent phosphorylation of nibrin in response to radiation exposure.
- Published in:
- Nature Genetics, 2000, v. 25, n. 1, p. 115, doi. 10.1038/75508
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- Publication type:
- Article
SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models.
- Published in:
- Annals of the New York Academy of Sciences, 2012, v. 1250, n. 1, p. 33, doi. 10.1111/j.1749-6632.2012.06467.x
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- Publication type:
- Article
Plasmapheresis versus lymphoplasmapheresis in rheumatoid arthritis: Immunologic comparisons and literature review.
- Published in:
- Journal of Clinical Apheresis, 1984, v. 2, n. 2, p. 184, doi. 10.1002/jca.2920020207
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- Publication type:
- Article
MicroRNAs: new players in the DNA damage response.
- Published in:
- Journal of Molecular Cell Biology, 2011, v. 3, n. 3, p. 151
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- Publication type:
- Article
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135873
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- Publication type:
- Article
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0098686
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- Publication type:
- Article
Occurrence of malignancy in immunodeficiency diseases. A literature review.
- Published in:
- 1971
- By:
- Publication type:
- journal article
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
- Published in:
- Nature, 1988, v. 336, n. 6199, p. 577, doi. 10.1038/336577a0
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- Publication type:
- Article
ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 101, doi. 10.1007/s00439-005-1254-7
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- Publication type:
- Article
A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.64695
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- Publication type:
- Article
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 774, doi. 10.1038/ejhg.2012.266
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- Publication type:
- Article
Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 235, doi. 10.1038/sj.ejhg.5200181
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- Publication type:
- Article
Membrane-bound Immunoglobulin (Ig) and In Vitro Production of Ig by Lymphoid Cells from Patients with Primary Immunodeficiencies.
- Published in:
- Scandinavian Journal of Immunology, 1973, v. 2, n. 1, p. 9, doi. 10.1111/j.1365-3083.1973.tb02010.x
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- Publication type:
- Article
A New Series of Small Molecular Weight Compounds Induce Read Through of All Three Types of Nonsense Mutations in the ATM Gene.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 9, p. 1653, doi. 10.1038/mt.2013.150
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- Publication type:
- Article
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
- Published in:
- Oncogene, 1997, v. 14, n. 16, p. 1911, doi. 10.1038/sj.onc.1201037
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- Publication type:
- Article
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20.
- Published in:
- Annals of Human Genetics, 2008, v. 72, n. 1, p. 10, doi. 10.1111/j.1469-1809.2007.00399.x
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- Publication type:
- Article
Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy.
- Published in:
- Acta Neuropathologica, 1998, v. 96, n. 4, p. 315, doi. 10.1007/s004010050900
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- Publication type:
- Article
A clinicopathologic analysis of chronic lymphocytic leukemia.
- Published in:
- American Journal of Hematology, 1981, v. 10, n. 1, p. 9, doi. 10.1002/ajh.2830100103
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- Publication type:
- Article
On the proposed association of the ATM variants 5557G>A and IVS38-8T>C and bilateral breast cancer.
- Published in:
- International Journal of Cancer, 2006, v. 119, n. 3, p. 724, doi. 10.1002/ijc.21876
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- Publication type:
- Article
TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.
- Published in:
- International Journal of Cancer, 2002, v. 97, n. 6, p. 726, doi. 10.1002/ijc.10102
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- Publication type:
- Article
SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.
- Published in:
- Nature Communications, 2013, v. 4, n. 5, p. 1824, doi. 10.1038/ncomms2824
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- Publication type:
- Article
Impaired ATM activation in B cells is associated with bone resorption in rheumatoid arthritis.
- Published in:
- Science Translational Medicine, 2019, v. 11, n. 519, p. 1, doi. 10.1126/scitranslmed.aaw4626
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- Publication type:
- Article
Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs).
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 2, p. 227, doi. 10.1007/s10875-015-0136-6
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- Publication type:
- Article
A- T<sub>W</sub><sub>innipeg</sub>: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 4, p. 332, doi. 10.1002/mgg3.72
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- Publication type:
- Article
Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4758, doi. 10.1093/hmg/ddu190
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- Publication type:
- Article
Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 16, p. 3151, doi. 10.1093/hmg/ddr217
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- Publication type:
- Article
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.
- Published in:
- British Medical Bulletin, 2007, v. 81/82, n. 1, p. 129, doi. 10.1093/bmb/ldm012
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- Publication type:
- Article
Comprehensive Profiling of Radiosensitive Human Cell Lines with DNA Damage Response Assays Identifies the Neutral Comet Assay as a Potential Surrogate for Clonogenic Survival.
- Published in:
- Radiation Research, 2012, v. 177, n. 2, p. 176, doi. 10.1667/RR2580.1
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- Publication type:
- Article
Deletion mapping of endocrine tumors localizes a second tumor suppressor gene on chromosome band 11q13.
- Published in:
- Genes, Chromosomes & Cancer, 1998, v. 22, n. 2, p. 130, doi. 10.1002/(SICI)1098-2264(199806)22:2<130::AID-GCC7>3.0.CO;2-Y
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- Publication type:
- Article
Detection of antibodies against virally-induced tumor-associated antigens by mixed hemadsorption.
- Published in:
- International Journal of Cancer, 1974, v. 13, n. 6, p. 795, doi. 10.1002/ijc.2910130608
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- Publication type:
- Article
ATM–Dependent MiR-335 Targets CtIP and Modulates the DNA Damage Response
- Published in:
- PLoS Genetics, 2013, v. 9, n. 5, p. 1, doi. 10.1371/journal.pgen.1003505
- By:
- Publication type:
- Article
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening.
- Published in:
- Human Mutation, 2021, v. 42, n. 9, p. 1124, doi. 10.1002/humu.24241
- By:
- Publication type:
- Article
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 198, doi. 10.1002/humu.21632
- By:
- Publication type:
- Article
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
- Published in:
- Human Mutation, 2006, v. 27, n. 10, p. 1061, doi. 10.1002/humu.9454
- By:
- Publication type:
- Article
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.
- Published in:
- Human Mutation, 2005, v. 25, n. 6, p. 593, doi. 10.1002/humu.9341
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- Publication type:
- Article
Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 118, doi. 10.1002/humu.20170
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- Publication type:
- Article
Intrinsic mitochondrial dysfunction in ATM-deficient lymphoblastoid cells.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 18, p. 2154, doi. 10.1093/hmg/ddm166
- By:
- Publication type:
- Article
Aprataxin, a novel protein that protects against genotoxic stress.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 10, p. 1081, doi. 10.1093/hmg/ddh122
- By:
- Publication type:
- Article
The pathogenesis of ataxia-telangiectasia.
- Published in:
- Clinical Reviews in Allergy & Immunology, 2001, v. 20, n. 1, p. 87, doi. 10.1385/CRIAI:20:1:87
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- Publication type:
- Article
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 205, doi. 10.1007/s10048-012-0331-z
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- Publication type:
- Article
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 67, doi. 10.1002/humu.10295
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- Publication type:
- Article
Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate (Communicated by Jacques S. Beckmann).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 43, doi. 10.1002/humu.10232
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- Publication type:
- Article
Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rateCommunicated by Jacques S. Beckmann.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 43, doi. 10.1002/humu.10232
- By:
- Publication type:
- Article
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer (Communicated by Albert de la Chapelle).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 542
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- Publication type:
- Article