BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 35279593)

  • 1. Establishment of a human induced pluripotent stem cell line, KMUGMCi001-A, from a patient bearing a heterozygous c.772 + 3_772 + 4dup mutation in the ACVRL1 gene leading Telangiectasia, hereditary hemorrhagic, type 2 (HHT2).
    Ura H; Togi S; Iwata Y; Ozaki M; Niida Y
    Stem Cell Res; 2022 May; 61():102743. PubMed ID: 35279593
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Generation and genetic repair of 2 iPSC clones from a patient bearing a heterozygous c.1120del18 mutation in the ACVRL1 gene leading to Hereditary Hemorrhagic Telangiectasia (HHT) type 2.
    Bouma MJ; Orlova V; van den Hil FE; Mager HJ; Baas F; de Knijff P; Mummery CL; Mikkers H; Freund C
    Stem Cell Res; 2020 Jul; 46():101786. PubMed ID: 32485642
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Generation of a Syngeneic Heterozygous
    Xiang-Tischhauser L; Bette M; Rusche JR; Roth K; Kasahara N; Stuck BA; Bakowsky U; Wartenberg M; Sauer H; Geisthoff UW; Mandic R
    Cells; 2023 Jun; 12(12):. PubMed ID: 37371070
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.
    Yu Q; Shen XH; Li Y; Li RJ; Li J; Luo YY; Liu SF; Deng MY; Pei MF; Zhang GS
    PLoS One; 2013; 8(2):e58031. PubMed ID: 23460919
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia].
    Luo JW; Chen H; Yang LQ; Zhu AL; Wu YA; Li JW
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Jun; 25(3):308-10. PubMed ID: 18543223
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.
    Alaa El Din F; Patri S; Thoreau V; Rodriguez-Ballesteros M; Hamade E; Bailly S; Gilbert-Dussardier B; Abou Merhi R; Kitzis A
    PLoS One; 2015; 10(7):e0132111. PubMed ID: 26176610
    [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. Decreased Expression of Vascular Endothelial Growth Factor Receptor 1 Contributes to the Pathogenesis of Hereditary Hemorrhagic Telangiectasia Type 2.
    Thalgott JH; Dos-Santos-Luis D; Hosman AE; Martin S; Lamandé N; Bracquart D; Srun S; Galaris G; de Boer HC; Tual-Chalot S; Kroon S; Arthur HM; Cao Y; Snijder RJ; Disch F; Mager JJ; Rabelink TJ; Mummery CL; Raymond K; Lebrin F
    Circulation; 2018 Dec; 138(23):2698-2712. PubMed ID: 30571259
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
    Lesca G; Olivieri C; Burnichon N; Pagella F; Carette MF; Gilbert-Dussardier B; Goizet C; Roume J; Rabilloud M; Saurin JC; Cottin V; Honnorat J; Coulet F; Giraud S; Calender A; Danesino C; Buscarini E; Plauchu H;
    Genet Med; 2007 Jan; 9(1):14-22. PubMed ID: 17224686
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
    Ricard N; Bidart M; Mallet C; Lesca G; Giraud S; Prudent R; Feige JJ; Bailly S
    Blood; 2010 Sep; 116(9):1604-12. PubMed ID: 20501893
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
    Yu B; Shi K; Wen Y; Yang Y
    BMC Cardiovasc Disord; 2023 Apr; 23(1):224. PubMed ID: 37120586
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
    Giraud S; Bardel C; Dupuis-Girod S; Carette MF; Gilbert-Dussardier B; Riviere S; Saurin JC; Eyries M; Patri S; Decullier E; Calender A; Lesca G
    Orphanet J Rare Dis; 2020 Sep; 15(1):254. PubMed ID: 32962750
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 52(5):642-649. PubMed ID: 28165669
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [Hereditary hemorrhagic telangiectasia. Report of a pediatric case].
    Maaloul I; Aloulou H; Fourati H; Sfaihi L; Chabchoub I; Kamoun T; Mnif Z; Hachicha M
    Arch Pediatr; 2014 Jul; 21(7):768-71. PubMed ID: 24935454
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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; 140(5):463-70. PubMed ID: 16470787
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.