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Journal Abstract Search

316 related items for PubMed ID: 34872578

  • 21. Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.
    Kim BG, Jung JH, Kim MJ, Moon EH, Oh JH, Park JW, Cha HE, Kim JH, Kim YJ, Chung JW, Hahm KB, Jin HR, Jang YJ, Kim SW, Chung SK, Kim DW, Lee YJ, Kim ST.
    Clin Exp Otorhinolaryngol; 2021 Nov; 14(4):399-406. PubMed ID: 33677851
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  • 25. Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).
    Whitehead KJ, Toydemir D, Wooderchak-Donahue W, Oakley GM, McRae B, Putnam A, McDonald J, Bayrak-Toydemir P.
    Int J Mol Sci; 2024 Jul 12; 25(14):. PubMed ID: 39062925
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  • 27. 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 12; 52(5):642-649. PubMed ID: 28165669
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  • 28. Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.
    Aguilera C, Padró-Miquel A, Esteve-Garcia A, Cerdà P, Torres-Iglesias R, Llecha N, Riera-Mestre A.
    Genes (Basel); 2023 Mar 22; 14(3):. PubMed ID: 36981042
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  • 30. Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.
    Mu W, Cordner ZA, Yuqi Wang K, Reed K, Robinson G, Mitchell S, Lin D.
    Genet Med; 2018 Jun 22; 20(6):639-644. PubMed ID: 29048420
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  • 32. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
    Brakensiek K, Frye-Boukhriss H, Mälzer M, Abramowicz M, Bahr MJ, von Beckerath N, Bergmann C, Caselitz M, Holinski-Feder E, Muschke P, Oexle K, Strobl-Wildemann G, Wolff G, El-Harith EA, Stuhrmann M.
    Clin Genet; 2008 Aug 22; 74(2):171-7. PubMed ID: 18498373
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  • 33. Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.
    Wehner LE, Folz BJ, Argyriou L, Twelkemeyer S, Teske U, Geisthoff UW, Werner JA, Engel W, Nayernia K.
    Clin Genet; 2006 Mar 22; 69(3):239-45. PubMed ID: 16542389
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  • 35. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia.
    Tørring PM, Brusgaard K, Ousager LB, Andersen PE, Kjeldsen AD.
    Clin Genet; 2014 Aug 22; 86(2):123-33. PubMed ID: 24001356
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  • 36. 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 22; 281(1):237-243. PubMed ID: 37603052
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  • 39. Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients.
    Baysal M, Demir S, Ümit EG, Gürkan H, Baş V, Karaman Gülsaran S, Demirci U, Kırkızlar HO, Demir AM.
    Balkan Med J; 2019 Dec 20; 37(1):43-46. PubMed ID: 31594285
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  • 40. Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.
    Gamboa NT, Joyce EJ, Eli I, Park MS, Taussky P, Schmidt RH, McDonald J, Whitehead KJ, Kalani MYS.
    J Clin Neurosci; 2018 May 20; 51():22-28. PubMed ID: 29483005
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