Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
about
Hereditary haemorrhagic telangiectasia: a clinical and scientific reviewHereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of diseaseHereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesisGenotype-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.Endoglin in liver fibrogenesis: Bridging basic science and clinical practiceSpectral imaging reveals microvessel physiology and function from anastomoses to thromboses.Optimal management of hereditary hemorrhagic telangiectasia.An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.Update on the molecular genetics of vascular anomalies.A postal survey of hereditary hemorrhagic telangectasia in the northeast of EnglandHereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations.5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2.Genetic Variation in the Platelet Endothelial Aggregation Receptor 1 Gene Results in Endothelial Dysfunction.Technique modifications for septodermoplasty: an illustrative case.Oxidative stress contributes to endothelial dysfunction in mouse models of hereditary hemorrhagic telangiectasia.Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).SMAD4 mutations found in unselected HHT patients.Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessmentClinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.A review of vascular anomalies: genetics and common syndromes.Screening for arteriovenous malformations in hereditary haemorrhagic telangiectasia.Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences.Signs and genetics of rare cancer syndromes with gastroenterological features.Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.Plasma endoglin as a marker to predict cardiovascular events in patients with chronic coronary artery diseases.Long-term complications of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia.Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry.Executive summary of the 11th HHT international scientific conference.Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia.Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia.Expression of endoglin and the activin receptor-like kinase 1 in skin suggests a role for these receptors in normal skin function and skin tumorigenesis.Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.An association of migraine with hereditary haemorrhagic telangiectasia independently of pulmonary right-to-left shunts.Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital
P2860
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P2860
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Hereditary haemorrhagic telang ...... y endoglin and ALK1 mutations.
@ast
Hereditary haemorrhagic telang ...... y endoglin and ALK1 mutations.
@en
type
label
Hereditary haemorrhagic telang ...... y endoglin and ALK1 mutations.
@ast
Hereditary haemorrhagic telang ...... y endoglin and ALK1 mutations.
@en
prefLabel
Hereditary haemorrhagic telang ...... y endoglin and ALK1 mutations.
@ast
Hereditary haemorrhagic telang ...... y endoglin and ALK1 mutations.
@en
P2093
P2860
P356
P1476
Hereditary haemorrhagic telang ...... y endoglin and ALK1 mutations.
@en
P2093
A Guttmacher
C Gallione
D Reinhardt
M Porteous
S Holloway
T Umasunthar
W McKinnon
P2860
P304
P356
10.1136/JMG.40.8.585
P407
P577
2003-08-01T00:00:00Z