BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

219 related articles for article (PubMed ID: 31511490)

  • 1. Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.
    Yokokawa T; Sugimoto K; Kimishima Y; Misaka T; Yoshihisa A; Morisaki H; Yamada O; Nakazato K; Ishida T; Takeishi Y
    Intern Med; 2020 Jan; 59(2):221-227. PubMed ID: 31511490
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia.
    Ishiwata T; Terada J; Tanabe N; Abe M; Sugiura T; Tsushima K; Tada Y; Sakao S; Kasahara Y; Nakanishi N; Morisaki H; Tatsumi K
    Intern Med; 2014; 53(20):2359-63. PubMed ID: 25318803
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pulmonary arterial hypertension in hereditary hemorrhagic telangiectasia associated with ACVRL1 mutation: a case report.
    Walsh LJ; Collins C; Ibrahim H; Kerins DM; Brady AP; O Connor TM
    J Med Case Rep; 2022 Mar; 16(1):99. PubMed ID: 35232468
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.
    Eyries M; Coulet F; Girerd B; Montani D; Humbert M; Lacombe P; Chinet T; Gouya L; Roume J; Axford MM; Pearson CE; Soubrier F
    Clin Genet; 2012 Aug; 82(2):173-9. PubMed ID: 21651515
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Hereditary pulmonary hypertension family with
    Lin YK; Yang DH; Lei C; Luo H
    Zhonghua Jie He He Hu Xi Za Zhi; 2023 Jun; 46(6):558-564. PubMed ID: 37278169
    [No Abstract]   [Full Text] [Related]  

  • 6. [Genetic analysis of a family affected with pulmonary hypertension secondary to hereditary hemorrhagic telangiectasia].
    Du X; Wang Y; Ye Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Apr; 35(2):197-201. PubMed ID: 29652991
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.
    Du J; Zhu Y; Zhang YL; Li S; Huang J; Luo XH; Liu L
    J Thromb Thrombolysis; 2015 Nov; 40(4):515-9. PubMed ID: 26245826
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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;
    Am J Med Genet A; 2015 Jun; 167(6):1262-7. PubMed ID: 25847705
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pulmonary arterial hypertension and portal hypertension in a patient with hereditary hemorrhagic telangiectasia.
    Pousada G; Baloira A; Valverde D
    Med Clin (Barc); 2015 Mar; 144(6):261-4. PubMed ID: 25543221
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 74(2):171-7. PubMed ID: 18498373
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 27(7):667-75. PubMed ID: 16752392
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 14(1):288. PubMed ID: 34872578
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene.
    Vandenbriele C; Peerlinck K; de Ravel T; Verhamme P; Vanassche T
    Acta Clin Belg; 2014 Apr; 69(2):139-41. PubMed ID: 24724759
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical features and screening of ACVRL1 gene in II hereditary hemorrhagic telangiectasia].
    Jia JJ; Zhang J; Zhao LD; Zhou XJ; Cheng J; Yuan HJ; Wang HT
    Zhonghua Yi Xue Za Zhi; 2012 Apr; 92(16):1107-11. PubMed ID: 22781769
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 12q13.12q13.13 microdeletion encompassing ACVRL1 and SCN8A genes: Clinical report of a new contiguous gene syndrome.
    Poisson A; Lesca G; Chatron N; Favre E; Cottin V; Gamondes D; Sanlaville D; Edery P; Giraud S; Demily C; Dupuis-Girod S
    Eur J Med Genet; 2019 Nov; 62(11):103565. PubMed ID: 30389587
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 123(3):153-157. PubMed ID: 30251589
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia.
    Rigelsky CM; Jennings C; Lehtonen R; Minai OA; Eng C; Aldred MA
    Am J Med Genet A; 2008 Oct; 146A(19):2551-6. PubMed ID: 18792970
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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; 33(7):591-592. PubMed ID: 31327192
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.