Novel Ataxia Telangiectasia and Rad3-Related Protein (ATR) Phenotype: Marfanoid Appearance, Generalized Hypermobility, Gait Imbalance, and Poor Wound Healing: A Case Report. [PDF]
Sadler ZA, Unger MD.
europepmc +1 more source
Recurrent cutaneous collagenous vasculopathy in a heterozygote carrier for the ataxia telangiectasia mutated gene: A case report. [PDF]
Alaka C, Tomczak L, Ilyas EN.
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Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes. [PDF]
Bakır DB +6 more
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An Unusual Case of Chronic Delimited Rhinosinusal Mucormycosis With Secondary Cutaneous Involvement in a Patient With Ataxia-Telangiectasia Syndrome. [PDF]
Abdala Mendoza FY +6 more
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MicroRNA dysregulation in ataxia telangiectasia. [PDF]
Cirillo E +23 more
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NETSseq reveals inflammatory and aging mechanisms in distinct cell types, driving cerebellar decline in ataxia telangiectasia. [PDF]
Stirparo GG +23 more
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Ataxia Telangiectasia with Giant Suprasellar Arachnoid Cyst - A Case Report and a Brief Review. [PDF]
Ashrafi MR +6 more
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Immunodeficiency Diseases and Tumor Immunobiology [PDF]
Abramoff, Peter A., Duquesnoy, Rene J.
core +1 more source
The novel brain penetrant ataxia-telangiectasia mutated inhibitor WSD0628 provides robust radiosensitization of brain tumor patient-derived xenografts. [PDF]
Xue Z +21 more
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Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome). [PDF]
Gattermeyer-Kell L +3 more
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