A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
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Hereditary haemorrhagic telangiectasia: a clinical and scientific reviewHereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of diseaseVascular anomalies: from genetics toward models for therapeutic trialsMononuclear cells and vascular repair in HHTFunctional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic TelangiectasiaHereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesisEnhanced responses to angiogenic cues underlie the pathogenesis of hereditary hemorrhagic telangiectasia 2Mutation study of Spanish patients with hereditary hemorrhagic telangiectasiaReal-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia.Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH.Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.Endoglin in liver fibrogenesis: Bridging basic science and clinical practiceClinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasiaFine 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.Pathogenesis of vascular anomalies.An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasiaA case report of a patient with hereditary hemorrhagic telangiectasia treated successively with thalidomide and bevacizumabHereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Natural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.Update on the molecular genetics of vascular anomalies.Contribution of oxidative stress to endothelial dysfunction in hereditary hemorrhagic telangiectasia.Research on potential biomarkers in hereditary hemorrhagic telangiectasia.Connective tissue disorders and cardiovascular complications: the indomitable role of transforming growth factor-beta signaling5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.A rare case of pulmonary arterio-venous malformation with recurrent anemia: Hereditary hemorrhagic telangiectasia.BMP9/ALK1 inhibits neovascularization in mouse models of age-related macular degeneration.A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective studyMutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathwayOxidative stress contributes to endothelial dysfunction in mouse models of hereditary hemorrhagic telangiectasia.Hepatic sonography in patients with hereditary hemorrhagic telangiectasia hospitalized for epistaxisIntegrating genomic and clinical medicine: searching for susceptibility genes in complex lung diseasesEndoglin: a critical mediator of cardiovascular healthPulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).SMAD4 mutations found in unselected HHT patients.HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.
P2860
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P2860
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@ast
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@en
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@nl
type
label
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@ast
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@en
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@nl
prefLabel
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@ast
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@en
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@nl
P2093
P356
P1476
A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5
@en
P2093
C L Shovlin
G M F Wallace
M E Begbie
P304
P356
10.1136/JMG.2004.028712
P407
P577
2005-07-01T00:00:00Z