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Journal Abstract Search

281 related items for PubMed ID: 32962750

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  • 4. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers.
    Sabbà C, Pasculli G, Lenato GM, Suppressa P, Lastella P, Memeo M, Dicuonzo F, Guant G.
    J Thromb Haemost; 2007 Jun; 5(6):1149-57. PubMed ID: 17388964
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  • 10. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.
    Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R.
    Am J Med Genet A; 2006 Mar 01; 140(5):463-70. PubMed ID: 16470787
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  • 11. 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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  • 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 07; 27(6):598. PubMed ID: 16705692
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  • 17. 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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  • 20. Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology.
    Bofarid S, Hosman AE, Mager JJ, Snijder RJ, Post MC.
    Int J Mol Sci; 2021 Mar 27; 22(7):. PubMed ID: 33801690
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