Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
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Hereditary haemorrhagic telangiectasia: a clinical and scientific reviewMutation study of Spanish patients with hereditary hemorrhagic telangiectasiaImaging of hereditary hemorrhagic telangiectasia.[Osler's disease].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.Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patientsCentral nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasiaOptimal management of hereditary hemorrhagic telangiectasia.Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasiaSymptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasiaNatural history and outcome of hepatic vascular malformations in a large cohort of patients with hereditary hemorrhagic teleangiectasia.Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14A postal survey of hereditary hemorrhagic telangectasia in the northeast of EnglandHereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations.An evaluation of the severity and progression of epistaxis in hereditary hemorrhagic telangiectasia 1 versus hereditary hemorrhagic telangiectasia 2.Neuroradiological Manifestations of Hereditary Hemorrhagic Telangiectasia in 139 Japanese Patients.Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation.Efficacy and safety of thalidomide for the treatment of severe recurrent epistaxis in hereditary haemorrhagic telangiectasia: results of a non-randomised, single-centre, phase 2 study.Treatment of severe refractory epistaxis in hereditary hemorrhagic telangiectasia using a two-flap nasal closure methodBrain 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.Functional analysis of saxophone, the Drosophila gene encoding the BMP type I receptor ortholog of human ALK1/ACVRL1 and ACVR1/ALK2.Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia patients can tolerate anticoagulation.Liver resection in patients with hepatic hereditary hemorrhagic telangiectasia.Mouse models of hereditary hemorrhagic telangiectasia: recent advances and future challenges.Pericytes as targets in hereditary hemorrhagic telangiectasia.Arteriovenous malformations in hereditary haemorrhagic telangiectasia: looking beyond ALK1-NOTCH interactions.Dyspnea with anemia turned out to be a case of hereditary hemorrhagic telangiectasia.Integrin β8 Deletion Enhances Vascular Dysplasia and Hemorrhage in the Brain of Adult Alk1 Heterozygous Mice.Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features.Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia in Japanese patients.Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study.Increase of circulating endothelial cells in patients with Hereditary Hemorrhagic Telangiectasia.
P2860
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P2860
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Genotype-phenotype correlation ...... he French-Italian HHT network.
@ast
Genotype-phenotype correlation ...... he French-Italian HHT network.
@en
type
label
Genotype-phenotype correlation ...... he French-Italian HHT network.
@ast
Genotype-phenotype correlation ...... he French-Italian HHT network.
@en
prefLabel
Genotype-phenotype correlation ...... he French-Italian HHT network.
@ast
Genotype-phenotype correlation ...... he French-Italian HHT network.
@en
P2093
P2860
P50
P1433
P1476
Genotype-phenotype correlation ...... he French-Italian HHT network.
@en
P2093
Alain Calender
Cesare Danesino
Cyril Goizet
Elisabetta Buscarini
Fabio Pagella
Florence Coulet
French-Italian-Rendu-Osler Network
Gaëtan Lesca
Henri Plauchu
Jean-Christophe Saurin
P2860
P2888
P356
10.1097/GIM.0B013E31802D8373
P407
P577
2007-01-01T00:00:00Z
P6179
1050701359