Condition: Telangiectasia, Hereditary Hemorrhagic, Type 1


rs1057517944 in ACVRL1 gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 15065824 2004 Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia.

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

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

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

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

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

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

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

PMID 24196379 2014 Hereditary hemorrhagic telangiectasia in Japanese patients.

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

PMID 17219009 2007 Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.

rs121918401 in ENG;LOC102723566 gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

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

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

PMID 7894484 1994 Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

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

PMID 9157574 1997 A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.

PMID 9245986 1997 Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

PMID 10982033 2000 Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

PMID 9554745 1998 Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

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

PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

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

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

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

rs1554810378 in ENG;LOC105379841 gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 9554745 1998 Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

PMID 9157574 1997 A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.

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

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

PMID 10982033 2000 Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

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 9245986 1997 Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

PMID 7894484 1994 Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

PMID 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

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

rs373842615 in LOC102723566;ENG gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 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 9157574 1997 A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.

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

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

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

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

PMID 10982033 2000 Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

PMID 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

PMID 9554745 1998 Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

PMID 9245986 1997 Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

PMID 7894484 1994 Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

rs878853657 in LOC105379841;ENG gene and Telangiectasia, Hereditary Hemorrhagic, Type 1 PMID 10545596 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.

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

PMID 9157574 1997 A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.

PMID 7894484 1994 Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

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 10625079 2000 Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

PMID 9245986 1997 Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.

PMID 9554745 1998 Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

PMID 10982033 2000 Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

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

PMID 20414677 2010 Update on molecular diagnosis of 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.