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Journal Abstract Search

248 related items for PubMed ID: 31400083

  • 1. 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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  • 2. 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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  • 4. 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 06; 24(1):69-76. PubMed ID: 19270816
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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. 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 06; 89(2):182-6. PubMed ID: 25970827
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  • 9. 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 06; 47(12):9967-9972. PubMed ID: 33201366
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  • 10. 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 06; 27(7):667-75. PubMed ID: 16752392
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  • 11. 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 06; 188(3):959-964. PubMed ID: 34904380
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  • 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 06; 160(18):710-719. PubMed ID: 31030535
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  • 14. 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 06; 21(9):2007-2014. PubMed ID: 30760892
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  • 15. 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 06; 52(5):642-649. PubMed ID: 28165669
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  • 16. Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
    Sánchez-Martínez R, Iriarte A, Mora-Luján JM, Patier JL, López-Wolf D, Ojeda A, Torralba MA, Juyol MC, Gil R, Añón S, Salazar-Mendiguchía J, Riera-Mestre A, RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine.
    Orphanet J Rare Dis; 2020 Jun 05; 15(1):138. PubMed ID: 32503579
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  • 17. [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 05; 30(2):176-9. PubMed ID: 23568730
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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
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  • 20. Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site.
    Plumitallo S, Ruiz-Llorente L, Langa C, Morini J, Babini G, Cappelletti D, Scelsi L, Greco A, Danesino C, Bernabeu C, Olivieri C.
    Gene; 2018 Mar 20; 647():85-92. PubMed ID: 29305977
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