Results 141 to 150 of about 30,315 (187)
The novel brain penetrant ataxia-telangiectasia mutated inhibitor WSD0628 provides robust radiosensitization of brain tumor patient-derived xenografts. [PDF]
Neuro OncolXue Z +21 more
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Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family. [PDF]
Front GenetZhou Q, Chen M, Tao E.
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Is high AFP associated with liver diseases in ataxia-telangiectasia and ataxia-oculomotor apraxia? [PDF]
Hepatol ForumIsmayilov R +7 more
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Dermatologic Clinics, 1995
Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
Amy S. Paller, Michael Swift
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Abstract Abstract SCI-7 Ataxia-telangiectasia (A-T) is the prototype for an expanded group of inherited radiation sensitive disorders that together define the XCIND syndrome: x-ray hypersensitivity, cancer, immunodeficiency, neurological dysfunction, and DNA repair deficiency.
Amy S. Paller, Michael Swift
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Ophthalmologica, 2010
A 7-year-old girl with ataxia telangiectasia is described. The characteristic clinical features suggested the disease but did not seem definite enough to diagnose the disease with certainty in its early stages. Arguments are advanced to suggest that our presently accepted diagnostic criteria in this condition are confirmed by computerized tomography ...
P, Nemet +3 more
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A 7-year-old girl with ataxia telangiectasia is described. The characteristic clinical features suggested the disease but did not seem definite enough to diagnose the disease with certainty in its early stages. Arguments are advanced to suggest that our presently accepted diagnostic criteria in this condition are confirmed by computerized tomography ...
P, Nemet +3 more
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Pediatrics, 1957
This paper based on eight cases and a necropsy report presents a familial symptom complex speaking strongly for a syndrome entity, for which the term ataxiatelangiectasia was proposed by the authors in a preliminary report. The main features are progressive cerebellar ataxia with onset in infancy; progressive telangiectasia of the bulbar conjunctivae ...
E Boder, R P Sedgwick
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This paper based on eight cases and a necropsy report presents a familial symptom complex speaking strongly for a syndrome entity, for which the term ataxiatelangiectasia was proposed by the authors in a preliminary report. The main features are progressive cerebellar ataxia with onset in infancy; progressive telangiectasia of the bulbar conjunctivae ...
E Boder, R P Sedgwick
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Archives of Neurology, 1978
Ataxia telangiectasia has been described as a single-gene autosomal recessive disorder. It affects multiple systems. Several attempts to present an etiological hypothesis that will account for the multisystem involvement have been made. Those reviewed haer are (1) aberration of inductive signaling, which is predicted on a deficient mesoderm, leading to
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Ataxia telangiectasia has been described as a single-gene autosomal recessive disorder. It affects multiple systems. Several attempts to present an etiological hypothesis that will account for the multisystem involvement have been made. Those reviewed haer are (1) aberration of inductive signaling, which is predicted on a deficient mesoderm, leading to
openaire +2 more sources
Ataxia telangiectasia with granulocytopenia
The Journal of Pediatrics, 1970A case of ataxia telangiectasia associated with granulocytopenia is described; the possibility that the thymic defect was causally related to the granulocytopenia is discussed. The patient's death at 30 months of age following the development of a reticulum cell sarcoma is the earliest reported malignancy-associated death of a patient with this disease.
R D, Feigin +4 more
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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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Movement Disorders, 1993
AbstractAtaxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the features were not stereotypic. This report describes a case that
J H, Friedman, A, Weitberg
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AbstractAtaxia telangiectasia (AT) is an autosomal recessive hereditary disorder characterized by onset in infancy or childhood of a cerebellar and later extrapyramidal disorder associated with telangiectasias and an immune deficit. Only a handful of cases have been described in which the features were not stereotypic. This report describes a case that
J H, Friedman, A, Weitberg
openaire +2 more sources