Condition: OSLER-RENDU-WEBER SYNDROME 2


rs1057517944 in ACVRL1 gene and OSLER-RENDU-WEBER SYNDROME 2 PMID 21158752 2011 Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

PMID 16470787 2006 Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

PMID 15024723 2004 Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

PMID 15065824 2004 Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia.

PMID 23722869 2014 Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes.

PMID 18673552 2008 Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

PMID 15517393 2005 Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

PMID 16705692 2006 Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

PMID 16429404 2006 DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

PMID 15712271 2005 Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.

PMID 20501893 2010 Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.

PMID 16540754 2006 Echocardiographic screening discloses increased values of pulmonary artery systolic pressure in 9 of 68 unselected patients affected with hereditary hemorrhagic telangiectasia.

PMID 17384219 2007 Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

PMID 19553198 2011 International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

PMID 10751092 2000 Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

PMID 18285823 2008 Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

PMID 25970827 2016 Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

PMID 12700602 2003 Disease-associated mutations in conserved residues of ALK-1 kinase domain.

PMID 27316748 2016 Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.

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

PMID 9245985 1997 The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

PMID 10767348 2000 Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.

PMID 11170071 2001 Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.

PMID 8640225 1996 Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

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

PMID 26176610 2015 Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

PMID 16525724 2006 Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

PMID 16752392 2006 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.

PMID 20414677 2010 Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

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

PMID 15712270 2005 Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.

PMID 10694922 1998 Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.

PMID 23805858 2013 HHT diagnosis by Mid-infrared spectroscopy and artificial neural network analysis.

PMID 16123970 2005 ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia.

PMID 10187774 1999 Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1.

PMID 12843319 2003 Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.

PMID 23124896 2013 Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.

PMID 15880681 2005 High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.

PMID 22718755 2012 Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.

PMID 22028876 2011 Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

PMID 22799562 2012 Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.

PMID 15879500 2006 Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

PMID 16542389 2006 Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.

PMID 19508727 2009 "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."

PMID 29171923 2017 Clinical and genetic findings in children with central nervous system arteriovenous fistulas.

PMID 26245826 2015 Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.

PMID 22991266 2012 Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations.

PMID 16690726 2006 Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

PMID 17786384 2007 Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

PMID 16861286 2006 A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.

PMID 16470589 2006 Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

PMID 24603890 2014 Long non-coding RNA expression profiles in hereditary haemorrhagic telangiectasia.

PMID 16282348 2006 Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia.

PMID 15375013 2004 Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes.

PMID 12114496 2002 Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.

PMID 19555857 2009 Genetics and genomics of pulmonary arterial hypertension.

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.

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

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

PMID 22632830 2012 Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.

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

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

PMID 16706966 2006 Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.

PMID 18498373 2008 Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.

PMID 22553411 2012 Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.

PMID 22377182 2013 A rare cause of fatal right ventricular cardiac decompensation.