BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

141 related articles for article (PubMed ID: 25318803)

  • 1. 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]  

  • 2. 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]  

  • 3. Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.
    Smoot LB; Obler D; McElhinney DB; Boardman K; Wu BL; Lip V; Mullen MP
    Arch Dis Child; 2009 Jul; 94(7):506-11. PubMed ID: 19357124
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. [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]  

  • 9. [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]  

  • 10. [Genetic diagnostics of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease)].
    Major T; Gindele R; Szabó Z; Jóni N; Kis Z; Bora L; Bárdossy P; Rácz T; Karosi T; Bereczky Z
    Orv Hetil; 2019 May; 160(18):710-719. PubMed ID: 31030535
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.
    Girerd B; Montani D; Coulet F; Sztrymf B; Yaici A; Jaïs X; Tregouet D; Reis A; Drouin-Garraud V; Fraisse A; Sitbon O; O'Callaghan DS; Simonneau G; Soubrier F; Humbert M
    Am J Respir Crit Care Med; 2010 Apr; 181(8):851-61. PubMed ID: 20056902
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. The intersection of genes and environment: development of pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and stimulant exposure.
    Ayala E; Kudelko KT; Haddad F; Zamanian RT; de Jesus Perez V
    Chest; 2012 Jun; 141(6):1598-1600. PubMed ID: 22670022
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population.
    Pahl KS; Choudhury A; Wusik K; Hammill A; White A; Henderson K; Pollak J; Kasthuri RS
    J Pediatr; 2018 Jun; 197():207-213. PubMed ID: 29655863
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Longitudinal Assessment of Curaçao Criteria in Children with Hereditary Hemorrhagic Telangiectasia.
    Pollak M; Gatt D; Shaw M; Hewko SL; Lamanna A; Santos S; Ratjen F
    J Pediatr; 2023 Dec; 263():113665. PubMed ID: 37572862
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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;
    Hum Mutat; 2006 Jun; 27(6):598. PubMed ID: 16705692
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
    McDonald J; Damjanovich K; Millson A; Wooderchak W; Chibuk JM; Stevenson DA; Gedge F; Bayrak-Toydemir P
    Clin Genet; 2011 Apr; 79(4):335-44. PubMed ID: 21158752
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.