Nosebleeds in hereditary hemorrhagic telangiectasia: Development of a patient‐completed daily eDiary
Sign Up to like & getrecommendations! Published in 2018 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.211
Abstract: A prospective, qualitative study was conducted to develop a patient‐reported outcome measure (PROM) for daily administration via electronic diary (eDiary) to assess the severity of nosebleeds in patients with hereditary hemorrhagic telangiectasia (HHT), in accordance… read more here.
Keywords: telangiectasia development; hereditary hemorrhagic; nosebleeds hereditary; hemorrhagic telangiectasia ... See more keywords
Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1498
Abstract: Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome. Next‐Generation Sequencing (NGS) techniques disclose causative sequence variants in around 90% of HHT… read more here.
Keywords: hereditary hemorrhagic; juvenile polyposis; hemorrhagic telangiectasia; polyposis syndrome ... See more keywords
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1972
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF‐β/BMPs signaling pathway. read more here.
Keywords: hereditary hemorrhagic; hemorrhagic telangiectasia; first demonstration; telangiectasia first ... See more keywords
ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.361
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT… read more here.
Keywords: hereditary hemorrhagic; mosaicism; mutational mosaicism; hemorrhagic telangiectasia ... See more keywords
Non‐invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.23649
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor‐like kinase 1 (ALK‐1/HHT2). HHT is… read more here.
Keywords: hereditary hemorrhagic; telangiectasia; non invasive; arteriovenous malformations ... See more keywords
Pazopanib for severe bleeding and transfusion-dependent anemia in hereditary hemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2021 at "Angiogenesis"
DOI: 10.1007/s10456-021-09807-4
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is a rare angiogenic disorder causing chronic gastrointestinal bleeding, epistaxis, and severe anemia. Pazopanib is an oral multi-kinase angiogenesis inhibitor with promise to treat bleeding in HHT. We analyzed outcomes of… read more here.
Keywords: pazopanib; severe bleeding; hereditary hemorrhagic; transfusion dependent ... See more keywords
Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation
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DOI: 10.1007/s11136-020-02415-7
Abstract: Objective The purpose of the study was to arrive at an accurate description of health-related quality of life of hereditary hemorrhagic telangiectasia patients. Methods Thirteen semi-structured interviews were conducted in patients with hereditary hemorrhagic telangiectasia.… read more here.
Keywords: hereditary hemorrhagic; health; quality life; life ... See more keywords
Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.01.007
Abstract: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease, with an autosomal dominant inheritance and a worldwide incidence of about 1: 5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG or… read more here.
Keywords: hht; hereditary hemorrhagic; binding site; hemorrhagic telangiectasia ... See more keywords
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.02.016
Abstract: Hereditary hemorrhagic telangiectasia (HHT) is a vascular rare disease characterized by nose and gastrointestinal bleeding, skin and mucosa telangiectasias, and arteriovenous malformations in internal organs. HHT shows an autosomal dominant inheritance and a worldwide prevalence… read more here.
Keywords: mutation; hereditary hemorrhagic; pellucida module; hemorrhagic telangiectasia ... See more keywords
Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia–Related Epistaxis and Gastrointestinal Bleeding
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DOI: 10.1016/j.mayocp.2017.11.013
Abstract: Objective: To present a multiyear clinical experience with intravenous bevacizumab for the management of severe gastrointestinal bleeding and/or epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). Patients and Methods: All patients treated with intravenous bevacizumab… read more here.
Keywords: hereditary hemorrhagic; gastrointestinal bleeding; hemorrhagic telangiectasia; intravenous bevacizumab ... See more keywords
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.160
Abstract: PurposePulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT). Mutations in ENG and ACVRL1 underlie the vast majority of clinically diagnosed cases. The aims of this study were… read more here.
Keywords: mutation carriers; hemorrhagic telangiectasia; hereditary hemorrhagic; eng ... See more keywords