These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 24724759)

  • 1. 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]  

  • 2. 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]  

  • 3. Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia (rendu-osler disease).
    Cottin V; Dupuis-Girod S; Lesca G; Cordier JF
    Respiration; 2007; 74(4):361-78. PubMed ID: 17641482
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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; 69(3):239-45. PubMed ID: 16542389
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 20(6):639-644. PubMed ID: 29048420
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Endothelial-to-Mesenchymal Transition in an Hereditary Hemorrhagic Telangiectasia-like Pediatric Case of Multiple Pulmonary Arteriovenous Malformations.
    Lorente-Herraiz L; Cuesta AM; Recio-Poveda L; Botella LM; Albiñana V
    Int J Mol Sci; 2024 Jun; 25(11):. PubMed ID: 38892351
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia.
    Anderson E; Sharma L; Alsafi A; Shovlin CL
    Thorax; 2022 Jun; 77(6):628-630. PubMed ID: 35165143
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; ; Aldred MA; Shovlin CL
    Am J Med Genet A; 2022 Mar; 188(3):959-964. PubMed ID: 34904380
    [TBL] [Abstract][Full Text] [Related]  

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

  • 11. 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]  

  • 12. 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]  

  • 13. Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations.
    Dunphy L; Talwar A; Patel N; Evans A
    BMJ Case Rep; 2021 Jan; 14(1):. PubMed ID: 33419752
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
    Villa D; Cinnante C; Valcamonica G; Manenti G; Lanfranconi S; Colombi A; Ghione I; Saetti MC; D'Amico M; Bonato S; Bresolin N; Comi GP; Ronchi D
    BMC Neurol; 2020 Aug; 20(1):316. PubMed ID: 32847536
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel de novo mutation of ENG gene in a fetus with pulmonary arteriovenous malformation.
    Cheng C; Zhu X; Yang F; Zhao S; Chen X
    Clin Genet; 2020 Dec; 98(6):626-627. PubMed ID: 32954511
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.
    Best DH; Vaughn C; McDonald J; Damjanovich K; Runo JR; Chibuk JM; Bayrak-Toydemir P
    J Med Genet; 2011 May; 48(5):358-60. PubMed ID: 21378382
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Subcutaneous temporal abscess as a clinical manifestation of pulmonary arteriovenous malformations in a patient with hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease).
    Haarmann S; Budihardja AS; Hölzle F; Wolff KD
    Int J Oral Maxillofac Surg; 2007 Dec; 36(12):1211-4. PubMed ID: 17681734
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.