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Journal Abstract Search

141 related items for PubMed ID: 34611981

  • 1. Clinical manifestations of patients with GDF2 mutations associated with hereditary hemorrhagic telangiectasia type 5.
    Farhan A, Yuan F, Partan E, Weiss CR.
    Am J Med Genet A; 2022 Jan; 188(1):199-209. PubMed ID: 34611981
    [Abstract] [Full Text] [Related]

  • 2. 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; 188(3):959-964. PubMed ID: 34904380
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  • 3. Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.
    Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.
    Blood; 2020 Oct 22; 136(17):1907-1918. PubMed ID: 32573726
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  • 4. 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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  • 5. 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 06; 123(3):153-157. PubMed ID: 30251589
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  • 6. 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 06; 185(7):1981-1990. PubMed ID: 33768677
    [Abstract] [Full Text] [Related]

  • 7. 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. A GDF2 missense mutation potentially involved in the pathogenesis of hereditary hemorrhagic telangiectasia: a case report.
    Ma L, Peng X, Gong Q.
    J Int Med Res; 2023 Mar 23; 51(3):3000605231159545. PubMed ID: 36891821
    [Abstract] [Full Text] [Related]

  • 9. New genetic drivers in hemorrhagic hereditary telangiectasia.
    Cerdà P, Castillo SD, Aguilera C, Iriarte A, Rocamora JL, Larrinaga AM, Viñals F, Graupera M, Riera-Mestre A.
    Eur J Intern Med; 2024 Jan 23; 119():99-108. PubMed ID: 37689549
    [Abstract] [Full Text] [Related]

  • 10. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
    Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stevenson DA, O'Fallon B, Velinder M, Farrell A, Shen W, Bedoukian E, Skrabann CM, Antaya RJ, Henderson K, Pollak J, Treat J, Day R, Jacher JE, Hannibal M, Bontempo K, Marth G, Bayrak-Toydemir P, McDonald J.
    Genet Med; 2019 Sep 23; 21(9):2007-2014. PubMed ID: 30760892
    [Abstract] [Full Text] [Related]

  • 11. 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 23; 167(6):1262-7. PubMed ID: 25847705
    [Abstract] [Full Text] [Related]

  • 12. [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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  • 15. Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
    Giraud S, Bardel C, Dupuis-Girod S, Carette MF, Gilbert-Dussardier B, Riviere S, Saurin JC, Eyries M, Patri S, Decullier E, Calender A, Lesca G.
    Orphanet J Rare Dis; 2020 Sep 22; 15(1):254. PubMed ID: 32962750
    [Abstract] [Full Text] [Related]

  • 16. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.
    Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fülöp GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P.
    Am J Hum Genet; 2013 Sep 05; 93(3):530-7. PubMed ID: 23972370
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  • 18. Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).
    McDonald J, Bayrak-Toydemir P, DeMille D, Wooderchak-Donahue W, Whitehead K.
    Genet Med; 2020 Jul 05; 22(7):1201-1205. PubMed ID: 32300199
    [Abstract] [Full Text] [Related]

  • 19. The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa-three novel pathogenic variants.
    Mutize TT, Seedat RY, Ploos van Amstel JK, Mager JJ, Brown SC, Gebremariam F, Coetzee MJ.
    Mol Biol Rep; 2020 Dec 05; 47(12):9967-9972. PubMed ID: 33201366
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