Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
about
Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesisVE-cadherin is a critical endothelial regulator of TGF-beta signallingAppreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Optimal management of hereditary hemorrhagic telangiectasia.Targeting under-diagnosis in hereditary hemorrhagic telangiectasia: a model approach for rare diseases?Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.Novel biochemical pathways of endoglin in vascular cell physiology.Genetics and genomics of pulmonary arterial hypertension.Hereditary hemorrhagic telangiectasia.Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland.Clinical and molecular genetic features of hereditary pulmonary arterial hypertension.The genetic basis of pulmonary arterial hypertension.How to manage patients with hereditary haemorrhagic telangiectasia.The role of genetics in pulmonary arterial hypertension.Molecular diagnosis utility of multiplex ligation-dependent probe amplification.Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion in ACVRL1 Suggests the Causing Mechanism.Cervical artery dissection and iliac artery aneurysm in an SMAD-4 mutation carrier.Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutationsNeural deletion of Tgfbr2 impairs angiogenesis through an altered secretome.National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia.Differential diagnosis of hepatopulmonary syndrome (HPS): Portopulmonary hypertension (PPH) and hereditary hemorrhagic telangiectasia (HHT).Clinical and genetic findings in children with central nervous system arteriovenous fistulas.Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.Bilateral lung transplant for hereditary hemorrhagic telangiectasia in a pediatric patient.Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspectiveJuvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation
P2860
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P2860
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Hereditary haemorrhagic telang ...... nsitivity and novel mutations.
@en
Hereditary haemorrhagic telang ...... nsitivity and novel mutations.
@nl
type
label
Hereditary haemorrhagic telang ...... nsitivity and novel mutations.
@en
Hereditary haemorrhagic telang ...... nsitivity and novel mutations.
@nl
prefLabel
Hereditary haemorrhagic telang ...... nsitivity and novel mutations.
@en
Hereditary haemorrhagic telang ...... nsitivity and novel mutations.
@nl
P2093
P2860
P356
P1476
Hereditary haemorrhagic telang ...... ensitivity and novel mutations
@en
P2093
B Piovesan
K Vandezande
N L Prigoda
S A Abdalla
P2860
P304
P356
10.1136/JMG.2006.042606
P407
P577
2006-05-11T00:00:00Z