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Journal Abstract Search

410 related items for PubMed ID: 31030535

  • 1. [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; 160(18):710-719. PubMed ID: 31030535
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  • 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 23; 18(1):20. PubMed ID: 28231770
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  • 8. 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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  • 10. 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 09; 185(7):1981-1990. PubMed ID: 33768677
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  • 11. Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
    Soysal N, Eyries M, Verlhac S, Escabasse V, Remus N, Tamalet A, Rioux JY, Franchi-Abella S, Vasile M, Robert S, Delestrain C, Hau I, Ducou-Le Pointe H, Soubrier F, Carette MF, Epaud R.
    Pediatr Pulmonol; 2017 May 09; 52(5):642-649. PubMed ID: 28165669
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  • 12. 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
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  • 13. 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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  • 14. 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 06; 167(6):1262-7. PubMed ID: 25847705
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  • 15. Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia.
    Lee NP, Matevski D, Dumitru D, Piovesan B, Rushlow D, Gallie BL.
    J Med Genet; 2011 May 06; 48(5):353-7. PubMed ID: 21415079
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  • 16. 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 06; 27(6):598. PubMed ID: 16705692
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  • 17. ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.
    Tørring PM, Kjeldsen AD, Ousager LB, Brusgaard K.
    Mol Genet Genomic Med; 2018 Jan 06; 6(1):121-125. PubMed ID: 29243366
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  • 18. [Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].
    Yi Y, Liu X, Wu B, Liu J, Ge S, Shi X.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2017 Sep 28; 42(9):1017-1022. PubMed ID: 28989145
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  • 19. Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
    Tusseau M, Eyries M, Chatron N, Coulet F, Guichet A, Colin E, Demeer B, Maillard H, Thevenon J, Lavigne C, Saillour V, Paris C, De Sainte Agathe JM, Pujalte M, Guilhem A, Dupuis-Girod S, Lesca G.
    Eur J Med Genet; 2024 Apr 28; 68():104919. PubMed ID: 38355093
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  • 20. 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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