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Journal Abstract Search

316 related items for PubMed ID: 34872578

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  • 3. 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; 24(1):69-76. PubMed ID: 19270816
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  • 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; 167(6):1262-7. PubMed ID: 25847705
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  • 5. 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; 185(7):1981-1990. PubMed ID: 33768677
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  • 6. Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.
    Zhao Y, Zhang Y, Wang X, Zhang L.
    Mol Genet Genomic Med; 2019 Sep; 7(9):e893. PubMed ID: 31400083
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  • 8. 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; 89(2):182-6. PubMed ID: 25970827
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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; 6(1):121-125. PubMed ID: 29243366
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  • 12. 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; 27(6):598. PubMed ID: 16705692
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  • 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
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  • 14. 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 07; 188(3):959-964. PubMed ID: 34904380
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  • 15. 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 07; 22(7):1201-1205. PubMed ID: 32300199
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  • 18. 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 07; 21(9):2007-2014. PubMed ID: 30760892
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  • 19. [Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].
    Liu C, Lv YX, Yang XD, Huang YH, Luo Y, Yi Q.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr 07; 30(2):176-9. PubMed ID: 23568730
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  • 20. 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 07; 27(7):667-75. PubMed ID: 16752392
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