Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
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Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumoursUpdate on the hyper immunoglobulin M syndromesA new ataxia-telangiectasia mutation in an 11-year-old femaleATM regulates NF-κB-dependent immediate-early genes via RelA Ser 276 phosphorylation coupled to CDK9 promoter recruitment.Placental transfer of maternally-derived IgA precludes the use of guthrie card eluates as a screening tool for primary immunodeficiency diseases.A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome.Educational paper: syndromic forms of primary immunodeficiencyTen new ATM alterations in Polish patients with ataxia-telangiectasia.Ataxia telangiectasia mutated kinase mediates NF-κB serine 276 phosphorylation and interferon expression via the IRF7-RIG-I amplification loop in paramyxovirus infection.Paradoxes in dermatology.Primary immunodeficiencies associated with DNA-repair disorders.DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome.DNA repair: the link between primary immunodeficiency and cancer.Ataxia telangiectasia: A report of two cousins and review of literature.Ataxia telangiectasia: more variation at clinical and cellular levels.Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human diseaseAtaxia-telangiectasia: recommendations for multidisciplinary treatment.Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling.Genetic Ataxia Telangiectasia porcine model phenocopies the multisystemic features of the human disease.The clinical significance of complete class switching defect in Ataxia telangiectasia patients.Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.Serum Interleukin-6 Levels and Pulmonary Function in Ataxia-Telangiectasia.Update on the management of the immunodeficiency in ataxia-telangiectasia.Infections of the respiratory system in patients with ataxia-telangiectasia.Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia.Global Gene Expression Response in Mouse Models of DNA Repair Deficiency after Gamma Irradiation.Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients.Developing T lymphocytes are uniquely sensitive to a lack of topoisomerase III alpha.Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia?Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.
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Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 26 May 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Immunodeficiency in ataxia tel ...... a telangiectasia mutated gene.
@en
Immunodeficiency in ataxia tel ...... a telangiectasia mutated gene.
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type
label
Immunodeficiency in ataxia tel ...... a telangiectasia mutated gene.
@en
Immunodeficiency in ataxia tel ...... a telangiectasia mutated gene.
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prefLabel
Immunodeficiency in ataxia tel ...... a telangiectasia mutated gene.
@en
Immunodeficiency in ataxia tel ...... a telangiectasia mutated gene.
@nl
P2093
P2860
P1476
Immunodeficiency in ataxia tel ...... a telangiectasia mutated gene.
@en
P2093
A M R Taylor
E G Davies
E M McDermott
E R Staples
P2860
P304
P356
10.1111/J.1365-2249.2008.03684.X
P577
2008-05-26T00:00:00Z