Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
about
The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic TelangiectasiaA murine model of hereditary hemorrhagic telangiectasiaMutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.Treatment of cutaneous and mucosal telangiectases in hereditary hemorrhagic telangiectasia: Report of three cases.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 haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanismsClinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.Visceral manifestations in hereditary haemorrhagic telangiectasia type 2CT Manifestations of Osler-Weber-Rendu Syndrome in Liver: Report of Three Cases.Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.Normal and abnormal pulmonary arteriovenous shunting: occurrence and mechanisms.Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients.Hemoptysis. Three questions that can direct management.Mixture distributions in human genetics research.Soluble endoglin antagonizes Met signaling in spindle carcinoma cells.Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.Disease-associated mutations in conserved residues of ALK-1 kinase domain.Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.Pulmonary arteriovenous malformations. A state of the art review.
P2860
Q24678806-0F901C3C-0B90-4830-A988-CBAA0CF79D73Q28116278-C79DBACC-62E8-4E4B-BEAE-A2EDEFCD178DQ28592376-94597ADC-064C-4AB0-9C70-711B653C9A4EQ31912670-43E5878A-22EC-4676-80EF-6FE243F58B8DQ33284783-6D85F6EE-EB3C-4FA6-8856-09D0F2399AD9Q33677405-139B0EA4-A653-43F6-AAB5-DCC0E505B183Q33683412-6EF0A15E-ED3B-4BE9-B612-75BC2F264324Q33691285-8DFDD0AA-34A2-470F-B4C5-6CF0ABE67B30Q34006402-5BCDEB6F-30C1-4D55-9777-63CFB08C230DQ34608886-9B6B07CD-0514-4B65-8E62-2CE076DB6298Q35443190-531E29E3-0D0D-4DB3-81EC-DA407EF8FD18Q36064865-82ED3DF4-054F-45DD-B256-8DE563E5A33BQ37374995-2700680F-A913-498D-B0DC-9C11885D1009Q38086269-4F602794-1026-4648-9D3C-2B2EDA397AE1Q40819926-9D703404-66DB-42CC-8B6B-B8E60B3AE47EQ41007471-CAA1D178-2AD1-46C0-9AFC-8BED098353FAQ41119129-5A8285BE-7079-4E0B-B119-1D6CA2A2463BQ42470252-2A7CEC70-FF42-4331-A46C-41C9916B9D00Q42535747-20A5CEF1-7C86-4975-9FB0-52852CC028C8Q44407006-34EF8B9E-59CF-4E02-9E88-4285A972A314Q47444178-FADAA7B1-DC8A-4157-84B9-A08BFD31A915Q52237999-E788DEED-EF2F-4CB3-9B16-804932D57152
P2860
Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Genetic heterogeneity in hered ...... ation with clinical phenotype.
@ast
Genetic heterogeneity in hered ...... ation with clinical phenotype.
@en
type
label
Genetic heterogeneity in hered ...... ation with clinical phenotype.
@ast
Genetic heterogeneity in hered ...... ation with clinical phenotype.
@en
prefLabel
Genetic heterogeneity in hered ...... ation with clinical phenotype.
@ast
Genetic heterogeneity in hered ...... ation with clinical phenotype.
@en
P2093
P2860
P356
P1476
Genetic heterogeneity in hered ...... ation with clinical phenotype.
@en
P2093
A E Guttmacher
B Bowles-Biesecker
C E Jackson
D A Marchuk
D S Markel
E A Helmbold
K A McAllister
M A Pericak-Vance
W C McKinnon
P2860
P304
P356
10.1136/JMG.31.12.927
P407
P577
1994-12-01T00:00:00Z