نتایج جستجو برای: ataxia telangiectasia

تعداد نتایج: 20288  

Journal: :Indian Journal of Human Genetics 2010

Journal: :Tremor and Other Hyperkinetic Movements 2015

Journal: :Cancer research 1994
Y K Huo Z Wang J H Hong L Chessa W H McBride S L Perlman R A Gatti

We used a modified colony survival assay to measure the sensitivity to ionizing radiation of more than 50 lymphoblastoid cell lines from normal individuals and from patients with ataxia-telangiectasia, Nijmegen breakage syndrome variants, and X-linked agammaglobulinemia. All of these disorders are associated with an increased frequency of cancer. Lymphoblastoid cell lines from patients with ata...

Journal: :Journal of medical genetics 1979
M A Frais

A 26-year-old male with ataxia-telangiectasia died with a gastric adenocarcinoma. Malignancy is a recognised complication of this condition, the majority of cases being reticuloendothelial. There have been three reports of gastric adenocarcinoma associated with ataxia-telangiectasia; this, however, is the first in British published reports.

Journal: :Archives of disease in childhood 1988
J Pritchard

Children with ataxia telangiectasia have a high probability of developing acute lymphoblastic leukaemia, and have increased sensitivity to chemotherapy and irradiation. We report a 51/2 year old boy who had undiagnosed ataxia telangiectasia when he presented with acute lymphoblastic leukaemia. He subsequently developed a chemoradiation induced leukoencephalopathy after conventional central nerv...

Journal: :Orphanet Journal of Rare Diseases 2016

Journal: :Neurology: Clinical Practice 2014

Journal: :The Application of Clinical Genetics 2014

Journal: :Orphanet Journal of Rare Diseases 2021

Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At time, main severity groups defined in A-T: classic (the more severe form) mild. Poor growth common problem A-T. An objective study was to develop references for Another compare patterns A-T mild wit...

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