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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

http://www.wikidata.org/entity/Q24600839

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Embolisation for pulmonary arteriovenous malformation Embolisation for pulmonary arteriovenous malformation Embolisation therapy for pulmonary arteriovenous malformations Embolisation therapy for pulmonary arteriovenous malformations Tmem100, an ALK1 receptor signaling-dependent gene essential for arterial endothelium differentiation and vascular morphogenesis Increased plasma soluble endoglin levels as an indicator of cardiovascular alterations in hypertensive and diabetic patients Vascular anomalies: from genetics toward models for therapeutic trials Integrity of Narrow Epithelial Tubes in the C. elegans Excretory System Requires a Transient Luminal Matrix Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia Matrix Gla protein deficiency causes arteriovenous malformations in mice Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia.The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population.[Hemorrhagic disorders].Recurrent Gastrointestinal Hemorrhage in Treatment with Dasatinib in a Patient Showing SMAD4 Mutation with Acute Lymphoblastic Leukemia Philadelphia Positive and Juvenile Polyposis Hereditary Hemorrhagic Telangiectasia Syndrome.Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1 Endoglin in liver fibrogenesis: Bridging basic science and clinical practice Loss of smad4 in Sertoli and Leydig cells leads to testicular dysgenesis and hemorrhagic tumor formation in mice A retrospective analysis of low dose, intranasal injected bevacizumab (Avastin) in hereditary haemorrhagic telangiectasia.Very low dose bevacizumab for the treatment of epistaxis in patients with hereditary hemorrhagic telangiectasia.Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes.Optimal management of hereditary hemorrhagic telangiectasia.Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?Pathogenesis of vascular anomalies.Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia Rare manifestations in a case of Osler-Weber-Rendu disease Severity score for hereditary hemorrhagic telangiectasia.Pulmonary Arteriovenous Malformation (AVM) Causing Tension Hemothorax in a Pregnant Woman Requiring Emergent Cesarean Delivery Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.Pulmonary arteriovenous malformations.Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.VarRanker: rapid prioritization of sequence variations associated with human disease.Circulating angiogenic cell dysfunction in patients with hereditary hemorrhagic telangiectasia Primary vascular tumors of bone: a spectrum of entities?Bleeding and clotting in hereditary hemorrhagic telangiectasia Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

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P2860

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

http://www.wikidata.org/entity/Q24600839

description

2009 nî lūn-bûn

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2009 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2009 թվականի հուլիսին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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European Journal of Human Genetics

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review

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Fatima S Govani

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Interaction and functional interplay between endoglin and ALK-1, two components of the endothelial transforming growth factor-beta receptor complex

Activin receptor-like kinase (ALK)1 is an antagonistic mediator of lateral TGFbeta/ALK5 signaling

Identification of BMP9 and BMP10 as functional activators of the orphan activin receptor-like kinase 1 (ALK1) in endothelial cells

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5

Smad-dependent and Smad-independent pathways in TGF-beta family signalling

Soluble endoglin contributes to the pathogenesis of preeclampsia

BMP-9 signals via ALK1 and inhibits bFGF-induced endothelial cell proliferation and VEGF-stimulated angiogenesis

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