Results 21 to 30 of about 61,429 (293)
Ataxia telangiectasia: a review
Orphanet Journal of Rare Diseases, 2016 Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt +5 more
doaj +1 more source
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid +20 more
wiley +1 more source
A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center
Annals of Movement Disorders, 2020 INTRODUCTION: Ataxia telangiectasia (AT) is an autosomal-recessive disease, characterized by progressive cerebellar degeneration, mucocutaneous telangiectasia, immunodeficiency, recurrent sinopulmonary infections, sensitivity to radiation, and increased ...
Manjunath Mahadevappa +5 more
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Clinical manifestation, course and treatment results of Coats disease in children
Российский офтальмологический журнал, 2023 Purpose: to analyze the clinical manifestations, course, and results of treatment of Coats disease in children. Materials and methods. We performed a retrospective analysis of medical records of 59 patients with Coats retinitis (83 % were boys) who had ...
L. V. Kogoleva +6 more
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c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis
Hepatology, EarlyView., 2022 In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie +17 more
wiley +1 more source
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]
, 2003 BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Flanagan, J A +16 more
core +1 more source
Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]
, 2014 25/03/14 meb. OA paper , Ok to add.Background: Pulmonary first pass filtration of particles marginally exceeding ~7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in ...
John A Livesey +38 more
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Ataxia-Telangiectasia with Hyper-IgM Syndrome
Pediatric Neurology Briefs, 2009 A group of eight children with ataxia-tengiectasia (A-T) who presented with serum Ig levels suggestive of hyper-IgM syndrome (HIGM) are reported from the Department of Paediatrics, Reinier de Graaf Gasthuis, Delft, and other centers in the Netherlands ...
J Gordon Millichap
doaj +1 more source
Dermatology Reports, 2023 Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal, diffuse, large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumen of small blood vessels, with no lymphadenopathy or masses.
Shigeru Koizumi +4 more
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Hereditary hemorrhagic telangiectasia, embolization, and Young’s procedure: oral surgical management
Journal of Oral Medicine and Oral Surgery, 2018 Hereditary hemorrhagic telangiectasia (HHT) case with history of embolization and Young’s procedure: surgical management. Introduction: Osler–Weber–Rendu disease hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular dysplasia.
Malthiery Eve +5 more
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