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2. Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital. Karlsson T; Cherif H Ups J Med Sci; 2018 Sep; 123(3):153-157. PubMed ID: 30251589 [TBL] [Abstract][Full Text] [Related]
3. Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia. Yuan J; Wu X; Zhao J; Ding Q; Dai J; Wang X; Lu Y; Li J Thromb Res; 2024 Sep; 241():109117. PubMed ID: 39151291 [TBL] [Abstract][Full Text] [Related]
4. Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia. Kitayama K; Ishiguro T; Komiyama M; Morisaki T; Morisaki H; Minase G; Hamanaka K; Miyatake S; Matsumoto N; Kato M; Takahashi T; Yorifuji T BMC Med Genomics; 2021 Dec; 14(1):288. PubMed ID: 34872578 [TBL] [Abstract][Full Text] [Related]
5. Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism. Shovlin CL; Sulaiman NL; Govani FS; Jackson JE; Begbie ME Thromb Haemost; 2007 Nov; 98(5):1031-9. PubMed ID: 18000608 [TBL] [Abstract][Full Text] [Related]
6. Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia. Kim BG; Jung JH; Kim MJ; Moon EH; Oh JH; Park JW; Cha HE; Kim JH; Kim YJ; Chung JW; Hahm KB; Jin HR; Jang YJ; Kim SW; Chung SK; Kim DW; Lee YJ; Kim ST Clin Exp Otorhinolaryngol; 2021 Nov; 14(4):399-406. PubMed ID: 33677851 [TBL] [Abstract][Full Text] [Related]
7. Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence. Latif MA; Sobreira NLD; Guthrie KS; Motaghi M; Robinson GM; Shafaat O; Gong AJ; Weiss CR Am J Med Genet A; 2021 Jul; 185(7):1981-1990. PubMed ID: 33768677 [TBL] [Abstract][Full Text] [Related]
8. Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding. Beckman JD; Li Q; Hester ST; Leitner O; Smith KL; Kasthuri RS Orphanet J Rare Dis; 2020 Jul; 15(1):185. PubMed ID: 32660636 [TBL] [Abstract][Full Text] [Related]
9. The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants. Mutize TT; Seedat RY; Ploos van Amstel JK; Mager JJ; Brown SC; Gebremariam F; Coetzee MJ Mol Biol Rep; 2020 Dec; 47(12):9967-9972. PubMed ID: 33201366 [TBL] [Abstract][Full Text] [Related]
10. Screening for pulmonary and cerebral arteriovenous malformations in children with hereditary haemorrhagic telangiectasia. Al-Saleh S; Mei-Zahav M; Faughnan ME; MacLusky IB; Carpenter S; Letarte M; Ratjen F Eur Respir J; 2009 Oct; 34(4):875-81. PubMed ID: 19386691 [TBL] [Abstract][Full Text] [Related]
11. High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia. Kofoed MS; Tørring PM; Christensen AA; Lange B; Kjeldsen AD; Nielsen TH Eur J Neurol; 2024 Feb; 31(2):e16128. PubMed ID: 37955551 [TBL] [Abstract][Full Text] [Related]
12. The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. Pawlikowska L; Nelson J; Guo DE; McCulloch CE; Lawton MT; Young WL; Kim H; Faughnan ME; Am J Med Genet A; 2015 Jun; 167(6):1262-7. PubMed ID: 25847705 [TBL] [Abstract][Full Text] [Related]
13. Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH. Mahmoud M; Borthwick GM; Hislop AA; Arthur HM Lab Invest; 2009 Jan; 89(1):15-25. PubMed ID: 19015642 [TBL] [Abstract][Full Text] [Related]
14. Pulmonary hypertension in hereditary haemorrhagic telangiectasia. Vorselaars VM; Velthuis S; Snijder RJ; Vos JA; Mager JJ; Post MC World J Cardiol; 2015 May; 7(5):230-7. PubMed ID: 26015855 [TBL] [Abstract][Full Text] [Related]
15. Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarction. Shovlin CL; Awan I; Cahilog Z; Abdulla FN; Guttmacher AE Int J Cardiol; 2016 Jul; 215():179-85. PubMed ID: 27116331 [TBL] [Abstract][Full Text] [Related]