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304 related items for PubMed ID: 19508727

  • 1. 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 09; 10():53. PubMed ID: 19508727
    [Abstract] [Full Text] [Related]

  • 2. 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 09; 69(3):239-45. PubMed ID: 16542389
    [Abstract] [Full Text] [Related]

  • 3. 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 09; 24(1):69-76. PubMed ID: 19270816
    [Abstract] [Full Text] [Related]

  • 4. 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 09; 27(7):667-75. PubMed ID: 16752392
    [Abstract] [Full Text] [Related]

  • 5. 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, Brain Vascular Malformation Consortium HHT Investigator Group.
    Am J Med Genet A; 2015 Jun 09; 167(6):1262-7. PubMed ID: 25847705
    [Abstract] [Full Text] [Related]

  • 6. 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 23; 18(1):20. PubMed ID: 28231770
    [Abstract] [Full Text] [Related]

  • 7. High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.
    Schulte C, Geisthoff U, Lux A, Kupka S, Zenner HP, Blin N, Pfister M.
    Hum Mutat; 2005 Jun 23; 25(6):595. PubMed ID: 15880681
    [Abstract] [Full Text] [Related]

  • 8. 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 23; 89(2):182-6. PubMed ID: 25970827
    [Abstract] [Full Text] [Related]

  • 9. 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 03; 12():130. PubMed ID: 21967607
    [Abstract] [Full Text] [Related]

  • 10. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
    Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M.
    Clin Genet; 2008 Aug 03; 74(2):171-7. PubMed ID: 18498373
    [Abstract] [Full Text] [Related]

  • 11. Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.
    Argyriou L, Twelkemeyer S, Panchulidze I, Wehner LE, Teske U, Engel W, Nayernia K.
    Int J Mol Med; 2006 Apr 03; 17(4):655-9. PubMed ID: 16525724
    [Abstract] [Full Text] [Related]

  • 12. 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, French Rendu-Osler Network.
    Hum Mutat; 2006 Jun 03; 27(6):598. PubMed ID: 16705692
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 123(3):153-157. PubMed ID: 30251589
    [Abstract] [Full Text] [Related]

  • 14. 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 03; 48(5):358-60. PubMed ID: 21378382
    [Abstract] [Full Text] [Related]

  • 15. [Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)].
    Major T, Gindele R, Szabó Z, Jóni N, Kis Z, Bora L, Bárdossy P, Rácz T, Karosi T, Bereczky Z.
    Orv Hetil; 2019 May 03; 160(18):710-719. PubMed ID: 31030535
    [Abstract] [Full Text] [Related]

  • 16. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
    Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.
    Hum Genet; 2005 Jan 03; 116(1-2):8-16. PubMed ID: 15517393
    [Abstract] [Full Text] [Related]

  • 17. Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.
    Boshuisen K, Brundel M, de Kovel CGF, Letteboer TG, Rinkel GJE, Westermann CJJ, Kim H, Pawlikowska L, Koeleman BPC, Klijn CJM.
    Transl Stroke Res; 2013 Jun 03; 4(3):375-378. PubMed ID: 24323303
    [Abstract] [Full Text] [Related]

  • 18. Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
    Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA.
    Am J Hum Genet; 2019 Nov 07; 105(5):894-906. PubMed ID: 31630786
    [Abstract] [Full Text] [Related]

  • 19. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
    Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M.
    J Med Genet; 2006 Sep 07; 43(9):722-8. PubMed ID: 16690726
    [Abstract] [Full Text] [Related]

  • 20. 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 07; 103(3):525-34. PubMed ID: 20135064
    [Abstract] [Full Text] [Related]

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