Condition: HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION


rs1057517944 in ACVRL1 gene and HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION PMID 15065824 2004 Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia.

PMID 23919827 2013 Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

PMID 14684682 2003 Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

PMID 20056902 2010 Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.

PMID 11484689 2001 Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

PMID 26387786 2015 Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

PMID 19357124 2009 Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.

PMID 21651515 2012 ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

PMID 25318803 2014 Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia.

PMID 23298310 2013 Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

PMID 15687131 2005 Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

PMID 21378382 2011 Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

PMID 18159113 2008 Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

rs1085307432 in ENG;LOC102723566 gene and HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION PMID 14684682 2003 Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

PMID 15115879 2004 Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension.

PMID 15687131 2005 Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.

PMID 18156574 2008 Early-life pulmonary arterial hypertension with subsequent development of diffuse pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia type 1.

PMID 23919827 2013 Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

rs1085307430 in LOC105379841;ENG gene and HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION PMID 14684682 2003 Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.