Results 31 to 40 of about 46,967 (195)
Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report [PDF]
Journal of Pediatrics Review, 2023 Background: Ataxia-telangiectasia is a multi-organ disease. It is due to a mutation of the Exon No. 5 ataxia telangiectasia mutated gene (c.381delA: p.v128fls).
Mohammad Reza Khosravi +4 more
doaj
Ataxia telangiectasia: Family management [PDF]
, 2010 Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three
Gnana, Sagar T. +3 more
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, 1999 Review on Ataxia telangiectasia, with data on clinics, and the genes ...
Uhrhammer, N, Bay, JO, Gatti, RA
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Frontiers in Neurology, 2023 Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes
Agnieszka Bajek +5 more
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, 2003 Review on Ataxia telangiectasia, with data on clinics, and the genes ...
Uhrhammer, N, Bay, JO, Gatti, RA
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Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
Case Reports in Genetics, 2020 Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from
D. Hettiarachchi +6 more
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Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations
Oman Medical Journal, 2020 Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhoodonset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is
Majid Zaki-Dizaji +6 more
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Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report
Indian Journal of Pathology and Microbiology, 2023 Ataxia-telangiectasia (A-T) is a rare autosomal recessive disease characterized by ataxia, cutaneous and ocular telangiectasia, impaired immunity with susceptibility to sino-pulmonary infections, radiation sensitivity, and cancers particularly of hemato ...
Tej P Singh +3 more
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Conjunctival Telangiectasia in a Patient with Ataxia Telangiectasia: A Case Report
, 2012 The purpose of this paper is to report a 7-year-old patient who developed bilateral conjunctival hyperemia while being under treatment of pneumonia in Pediatric Infectious Diseases Clinic at Sisli Etfal Training and Research Hospital.
Dilek Güven +2 more
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Evaluating the efficacy of DNA repair biomarkers to assess human cell response to chemotherapy using imaging flow cytometry [PDF]
, 2013 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Chemotherapy and radiotherapy are widely accepted as common forms of treatment for cancers. The majority of cancer patients receive chemotherapy alone or in
Zahir, Sheba Adam
core +5 more sources