BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 21967607)

  • 1. Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.
    Kim MJ; Kim ST; Lee HD; Lee KY; Seo J; Lee JB; Lee YJ; Oh SP
    BMC Med Genet; 2011 Oct; 12():130. PubMed ID: 21967607
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.
    Albiñana V; Zafra MP; Colau J; Zarrabeitia R; Recio-Poveda L; Olavarrieta L; Pérez-Pérez J; Botella LM
    BMC Med Genet; 2017 Feb; 18(1):20. PubMed ID: 28231770
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.
    Damjanovich K; Langa C; Blanco FJ; McDonald J; Botella LM; Bernabeu C; Wooderchak-Donahue W; Stevenson DA; Bayrak-Toydemir P
    Orphanet J Rare Dis; 2011 Dec; 6():85. PubMed ID: 22192717
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
    Lesca G; Burnichon N; Raux G; Tosi M; Pinson S; Marion MJ; Babin E; Gilbert-Dussardier B; Rivière S; Goizet C; Faivre L; Plauchu H; Frébourg T; Calender A; Giraud S;
    Hum Mutat; 2006 Jun; 27(6):598. PubMed ID: 16705692
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. 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.
    Bossler AD; Richards J; George C; Godmilow L; Ganguly A
    Hum Mutat; 2006 Jul; 27(7):667-75. PubMed ID: 16752392
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
    Heimdal K; Dalhus B; Rødningen OK; Kroken M; Eiklid K; Dheyauldeen S; Røysland T; Andersen R; Kulseth MA
    Clin Genet; 2016 Feb; 89(2):182-6. PubMed ID: 25970827
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells.
    Albiñana V; Bernabeu-Herrero ME; Zarrabeitia R; Bernabéu C; Botella LM
    Thromb Haemost; 2010 Mar; 103(3):525-34. PubMed ID: 20135064
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
    Fontalba A; Fernandez-L A; García-Alegria E; Albiñana V; Garrido-Martin EM; Blanco FJ; Zarrabeitia R; Perez-Molino A; Bernabeu-Herrero ME; Ojeda ML; Fernandez-Luna JL; Bernabeu C; Botella LM
    BMC Med Genet; 2008 Aug; 9():75. PubMed ID: 18673552
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.
    Best DH; Vaughn C; McDonald J; Damjanovich K; Runo JR; Chibuk JM; Bayrak-Toydemir P
    J Med Genet; 2011 May; 48(5):358-60. PubMed ID: 21378382
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.
    Zhao Y; Zhang Y; Wang X; Zhang L
    Mol Genet Genomic Med; 2019 Sep; 7(9):e893. PubMed ID: 31400083
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.
    Sabbà C; Pasculli G; Lenato GM; Suppressa P; Lastella P; Memeo M; Dicuonzo F; Guant G
    J Thromb Haemost; 2007 Jun; 5(6):1149-57. PubMed ID: 17388964
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Hereditary hemorrhagic telangiectasia in Japanese patients.
    Komiyama M; Ishiguro T; Yamada O; Morisaki H; Morisaki T
    J Hum Genet; 2014 Jan; 59(1):37-41. PubMed ID: 24196379
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.
    Lu Y; Zhu Y; Shi L; Zhen H; Sun Z; Cheng L
    Mol Med Rep; 2015 Jul; 12(1):510-2. PubMed ID: 25760803
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.