Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. - Wikidata - wikimedia - TriplyDB

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

http://www.wikidata.org/entity/Q31092753

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Hereditary haemorrhagic telangiectasia: a clinical and scientific review Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia Imaging 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 patients Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasia Optimal management of hereditary hemorrhagic telangiectasia.Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia Natural 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 PTPN14 A postal survey of hereditary hemorrhagic telangectasia in the northeast of England Hereditary 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 method Brain arteriovenous malformation multiplicity predicts the diagnosis of hereditary hemorrhagic telangiectasia: quantitative assessment Clinical 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.

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P2860

Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.

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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած

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Cesare Danesino

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Cyril Goizet

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Fabio Pagella

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Florence Coulet

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French-Italian-Rendu-Osler Network

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Gaëtan Lesca

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Jean-Christophe Saurin

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P2860

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

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

Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Hereditary hemorrhagic telangiectasia: A model for blood vessel growth and enlargement

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

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1

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Brigitte Gilbert-Dussardier

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hereditary hemorrhagic telangiectasia