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Journal Abstract Search

387 related items for PubMed ID: 32847536

  • 1. Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
    Villa D, Cinnante C, Valcamonica G, Manenti G, Lanfranconi S, Colombi A, Ghione I, Saetti MC, D'Amico M, Bonato S, Bresolin N, Comi GP, Ronchi D.
    BMC Neurol; 2020 Aug 26; 20(1):316. PubMed ID: 32847536
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  • 2. 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 26; 185(7):1981-1990. PubMed ID: 33768677
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  • 3. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.
    Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, Redhead J, McKnight AJ, Thomas GA, Genomics England Research ConsortiumGenomics England, London, UK., Aldred MA, Shovlin CL.
    Am J Med Genet A; 2022 Mar 26; 188(3):959-964. PubMed ID: 34904380
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  • 5. 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
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  • 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 23; 160(18):710-719. PubMed ID: 31030535
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  • 10. 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
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  • 12. 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
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  • 15. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).
    Cottin V, Dupuis-Girod S, Lesca G, Cordier JF.
    Respiration; 2007 Dec 06; 74(4):361-78. PubMed ID: 17641482
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  • 18. 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
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