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Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy.
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Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia.
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Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.
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Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report
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Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?
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Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL.
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Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.
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Non-hodgkin B-cell lymphoma of the ovary in a child with Ataxia-telangiectasia.
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Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia.
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Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
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Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family
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Odalisque's position as a geste antagoniste in a variant phenotype of Ataxia‐Telangiectasia
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Possible control of cell death pathways in ataxia telangiectasia. A case report.
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Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report.
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Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.
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T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy.
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The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
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The critically ill patient with ataxia-telangiectasia: a case series.
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Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.
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Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.