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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

664 related items for PubMed ID: 28231770

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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 06; 14(1):288. PubMed ID: 34872578
    [Abstract] [Full Text] [Related]

  • 6. 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 06; 103(3):525-34. PubMed ID: 20135064
    [Abstract] [Full Text] [Related]

  • 7. Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.
    Plumitallo S, Ruiz-Llorente L, Langa C, Morini J, Babini G, Cappelletti D, Scelsi L, Greco A, Danesino C, Bernabeu C, Olivieri C.
    Gene; 2018 Mar 20; 647():85-92. PubMed ID: 29305977
    [Abstract] [Full Text] [Related]

  • 8. 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 20; 123(3):153-157. PubMed ID: 30251589
    [Abstract] [Full Text] [Related]

  • 9. [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 20; 160(18):710-719. PubMed ID: 31030535
    [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 20; 27(7):667-75. PubMed ID: 16752392
    [Abstract] [Full Text] [Related]

  • 11. 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 20; 24(1):69-76. PubMed ID: 19270816
    [Abstract] [Full Text] [Related]

  • 12. Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.
    Ruiz-Llorente L, Gallardo-Vara E, Rossi E, Smadja DM, Botella LM, Bernabeu C.
    Expert Opin Ther Targets; 2017 Oct 20; 21(10):933-947. PubMed ID: 28796572
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 07; 27(3):295. PubMed ID: 16470589
    [Abstract] [Full Text] [Related]

  • 15. 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 07; 12(1):510-2. PubMed ID: 25760803
    [Abstract] [Full Text] [Related]

  • 16. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.
    Tørring PM, Kjeldsen AD, Ousager LB, Brusgaard K.
    Mol Genet Genomic Med; 2018 Jan 07; 6(1):121-125. PubMed ID: 29243366
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 27(6):598. PubMed ID: 16705692
    [Abstract] [Full Text] [Related]

  • 18. 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 07; 89(2):182-6. PubMed ID: 25970827
    [Abstract] [Full Text] [Related]

  • 19. Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.
    Fontalba A, Fernández-Luna JL, Zarrabeitia R, Recio-Poveda L, Albiñana V, Ojeda-Fernández ML, Bernabéu C, Alcaraz LA, Botella LM.
    BMC Med Genet; 2013 Nov 25; 14():121. PubMed ID: 24267784
    [Abstract] [Full Text] [Related]

  • 20. 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 25; 25(6):595. PubMed ID: 15880681
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 34.