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 *

235 related articles for article (PubMed ID: 23568730)

  • 1. [Clinical features and genetic screening of hereditary hemorrhagic telangiectasia].
    Liu C; Lv YX; Yang XD; Huang YH; Luo Y; Yi Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):176-9. PubMed ID: 23568730
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.
    Lee ST; Kim JA; Jang SY; Kim DK; Do YS; Suh GY; Kim JW; Ki CS
    J Korean Med Sci; 2009 Feb; 24(1):69-76. PubMed ID: 19270816
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia.
    Kim MJ; Kim ST; Lee HD; Lee KY; Seo J; Lee JB; Lee YJ; Oh SP
    BMC Med Genet; 2011 Oct; 12():130. PubMed ID: 21967607
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. 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]  

  • 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. 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]  

  • 13. A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.
    Lu Y; Zhu Y; Shi L; Zhen H; Sun Z; Cheng L
    Mol Med Rep; 2015 Jul; 12(1):510-2. PubMed ID: 25760803
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hereditary hemorrhagic telangiectasia type 1 and 2 mutations in Finland.
    Sankelo M; Halme M; Laitinen T; Mattila PS
    Acta Otolaryngol; 2008 Nov; 128(11):1238-41. PubMed ID: 18607909
    [TBL] [Abstract][Full Text] [Related]  

  • 15. High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.
    Schulte C; Geisthoff U; Lux A; Kupka S; Zenner HP; Blin N; Pfister M
    Hum Mutat; 2005 Jun; 25(6):595. PubMed ID: 15880681
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.
    Albiñana V; Zafra MP; Colau J; Zarrabeitia R; Recio-Poveda L; Olavarrieta L; Pérez-Pérez J; Botella LM
    BMC Med Genet; 2017 Feb; 18(1):20. PubMed ID: 28231770
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.
    Sadick H; Hage J; Goessler U; Stern-Straeter J; Riedel F; Hoermann K; Bugert P
    BMC Med Genet; 2009 Jun; 10():53. PubMed ID: 19508727
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Allelic dropout in the ENG gene, affecting the results of genetic testing in hereditary hemorrhagic telangiectasia.
    Tørring PM; Kjeldsen AD; Ousager LB; Brasch-Andersen C; Brusgaard K
    Genet Test Mol Biomarkers; 2012 Dec; 16(12):1419-23. PubMed ID: 23046070
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.
    Fernandez-L A; Sanz-Rodriguez F; Zarrabeitia R; Perez-Molino A; Morales C; Restrepo CM; Ramirez JR; Coto E; Lenato GM; Bernabeu C; Botella LM
    Hum Mutat; 2006 Mar; 27(3):295. PubMed ID: 16470589
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family.
    Wooderchak W; Gedge F; McDonald M; Krautscheid P; Wang X; Malkiewicz J; Bukjiok CJ; Lewis T; Bayrak-Toydemir P
    Clin Genet; 2010 Nov; 78(5):484-9. PubMed ID: 20412114
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.