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The cytogenetics of ataxia telangiectasia
Cancer Genetics and Cytogenetics, 1991Ataxia-telangiectasia (AT) is a heterogeneous autosomal recessive disorder marked by cerebellar ataxia, oculocutaneous telangiectases, hypersensitivity to ionizing radiation, immunodeficiency, and cancer susceptibility. AT is also a spontaneous chromosomal breakage syndrome, notable for tissue-specific cytogenetic changes and telomeric fusions ...
T L, Kojis, R A, Gatti, R S, Sparkes
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Radiosensitivity in ataxia-telangiectasia
The British Journal of Radiology, 1975Ataxia-telangiectasia is a syndrome of autosomal recessive inheritance characterized by cerebellar ataxia and oculocutaneous telangiectasia (Boder and Sedgwick, 1958; Karpati et al., 1965). The ataxia, which is progressive, is usually first noticed when the child starts to walk.
P N, Cunlift +4 more
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The Journal of Pediatrics, 1967
Ataxia-telangiectasia (AT) is a genetically determined disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent sinopulmonary infections. Seven cases are reported together with necropsy findings in two patients. Ocular signs are prominent and in addition to bulbar conjunctival telangiectasia include nystagmus,
R D, Harley, H W, Baird, E M, Craven
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Ataxia-telangiectasia (AT) is a genetically determined disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and recurrent sinopulmonary infections. Seven cases are reported together with necropsy findings in two patients. Ocular signs are prominent and in addition to bulbar conjunctival telangiectasia include nystagmus,
R D, Harley, H W, Baird, E M, Craven
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Neurologic Clinics, 1987
Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
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Journal of Computer Assisted Tomography, 1994
The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections.
L, Farina +8 more
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The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections.
L, Farina +8 more
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DYSGERMINOMA IN A CHILD WITH ATAXIA–TELANGIECTASIA
Pediatric Hematology and Oncology, 2007Ataxia-telangiectasia is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, high incidence of cancer, and increased sensitivity to ionizing radiation. The authors report a case of dysgerminoma in a child with high alpha-fetoprotein, CA125 and beta-human chorionic gonadotropin,
Köksal, Yavuz +6 more
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