Results 241 to 250 of about 61,429 (293)
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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.
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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.
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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
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American Journal of Roentgenology, 1976
Pulmonary telangiectasia is an uncommon developmental anomaly characterized by minute arteriovenous fistulae disseminated throughout both lungs. It should be suspected in patients with cyanosis and digital clubbing who do not have chronic lung disease or a cyanotic cardiac anomaly.
G, Currarino +3 more
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Pulmonary telangiectasia is an uncommon developmental anomaly characterized by minute arteriovenous fistulae disseminated throughout both lungs. It should be suspected in patients with cyanosis and digital clubbing who do not have chronic lung disease or a cyanotic cardiac anomaly.
G, Currarino +3 more
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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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British Journal of Diseases of the Chest, 1979
Two patients with pulmonary telangiectasia are described. One of these is by far the oldest yet reported. The diagnosis and prognosis of this condition are discussed.
T J, Charles, A B, Davies
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Two patients with pulmonary telangiectasia are described. One of these is by far the oldest yet reported. The diagnosis and prognosis of this condition are discussed.
T J, Charles, A B, Davies
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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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Vesical varices and telangiectasias in a patient with ataxia telangiectasia
Pediatric Nephrology, 2008A Japanese boy with ataxia telangiectasia (AT) developed severe gross hematuria and recurrent bladder tamponade, requiring an extensive blood transfusion. He had received intermittent intravenous cyclophosphamide pulse therapy (cumulative dose of 1.3 g) for refractory steroid-resistant and intravenous immunoglobulin-resistant severe autoimmune ...
Koichi, Suzuki +5 more
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