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Journal Abstract Search

213 related items for PubMed ID: 28989145

  • 1. [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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family.
    Li P, Gao C, Wei Y, Zhao X, Sun D, Lin L, Yang Y, Shao Q, Lv H.
    Eur Arch Otorhinolaryngol; 2024 Jan 23; 281(1):237-243. PubMed ID: 37603052
    [Abstract] [Full Text] [Related]

  • 4. [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
    [Abstract] [Full Text] [Related]

  • 5. [Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia].
    Song XY, Yang YJ, Yao Y, Zhang Y, Song XC.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2021 Dec 07; 56(12):1307-1312. PubMed ID: 34963219
    [Abstract] [Full Text] [Related]

  • 6. 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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  • 10. 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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  • 12. 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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  • 14. [Gene diagnosis and treatment of hereditary hemorrhagic telangiectasia with epistaxis as its main symptom].
    Leng H, Zhang Q, Shi L.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Jul 06; 33(7):591-592. PubMed ID: 31327192
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  • 16. 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
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, McDonald J, Stevenson DA.
    ; 1993 Jul 06. PubMed ID: 20301525
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