These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA; Letarte M J Med Genet; 2006 Feb; 43(2):97-110. PubMed ID: 15879500 [TBL] [Abstract][Full Text] [Related]
8. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1. Fernandez-L A; Sanz-Rodriguez F; Zarrabeitia R; Perez-Molino A; Morales C; Restrepo CM; Ramirez JR; Coto E; Lenato GM; Bernabeu C; Botella LM Hum Mutat; 2006 Mar; 27(3):295. PubMed ID: 16470589 [TBL] [Abstract][Full Text] [Related]
9. Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. Wehner LE; Folz BJ; Argyriou L; Twelkemeyer S; Teske U; Geisthoff UW; Werner JA; Engel W; Nayernia K Clin Genet; 2006 Mar; 69(3):239-45. PubMed ID: 16542389 [TBL] [Abstract][Full Text] [Related]
10. Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. Chen YJ; Yang QH; Liu D; Liu QQ; Eyries M; Wen L; Wu WH; Jiang X; Yuan P; Zhang R; Soubrier F; Jing ZC Eur J Clin Invest; 2013 Oct; 43(10):1016-24. PubMed ID: 23919827 [TBL] [Abstract][Full Text] [Related]
13. 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. Sadick H; Hage J; Goessler U; Stern-Straeter J; Riedel F; Hoermann K; Bugert P BMC Med Genet; 2009 Jun; 10():53. PubMed ID: 19508727 [TBL] [Abstract][Full Text] [Related]
14. [Hereditary hemorrhagic telangiectasia resulted from a nonsense mutation Arg479 Stop in the ALK-1 gene]. Xie BS; Xie S; Chen P; Zhu MY; Zheng JY; Wang XF; Fu QH; Zhou RF; Wang WB; Wu WM; Ding QL; Wang HL; Hu LM Zhonghua Xue Ye Xue Za Zhi; 2004 Sep; 25(9):536-9. PubMed ID: 15569532 [TBL] [Abstract][Full Text] [Related]
15. Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. Tørring PM; Larsen MJ; Kjeldsen AD; Ousager LB; Tan Q; Brusgaard K Microvasc Res; 2015 May; 99():118-26. PubMed ID: 25892364 [TBL] [Abstract][Full Text] [Related]
17. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. McDonald J; Bayrak-Toydemir P; Pyeritz RE Genet Med; 2011 Jul; 13(7):607-16. PubMed ID: 21546842 [TBL] [Abstract][Full Text] [Related]
18. Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia. Lee ST; Kim JA; Jang SY; Kim DK; Do YS; Suh GY; Kim JW; Ki CS J Korean Med Sci; 2009 Feb; 24(1):69-76. PubMed ID: 19270816 [TBL] [Abstract][Full Text] [Related]
19. Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia. Shoukier M; Teske U; Weise A; Engel W; Argyriou L Clin Genet; 2008 Apr; 73(4):320-30. PubMed ID: 18312453 [TBL] [Abstract][Full Text] [Related]
20. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Wooderchak W; Gedge F; McDonald M; Krautscheid P; Wang X; Malkiewicz J; Bukjiok CJ; Lewis T; Bayrak-Toydemir P Clin Genet; 2010 Nov; 78(5):484-9. PubMed ID: 20412114 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]