195 related articles for article (PubMed ID: 18498373)
1. 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]
2. 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]
3. Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.
Kuehl HK; Caselitz M; Hasenkamp S; Wagner S; El-Harith el-HA; Manns MP; Stuhrmann M
Hum Mutat; 2005 Mar; 25(3):320. PubMed ID: 15712270
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.
Argyriou L; Twelkemeyer S; Panchulidze I; Wehner LE; Teske U; Engel W; Nayernia K
Int J Mol Med; 2006 Apr; 17(4):655-9. PubMed ID: 16525724
[TBL] [Abstract][Full Text] [Related]
10. Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system.
Simon M; Franke D; Ludwig M; Aliashkevich AF; Köster G; Oldenburg J; Boström A; Ziegler A; Schramm J
J Neurosurg; 2006 Jun; 104(6):945-9. PubMed ID: 16776339
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Does the genotype of HHT patients with mutations of the ENG and ACVRL1 gene correlate to different expression levels of the angiogenic factor VEGF?
Sadick H; Hage J; Goessler U; Bran G; Riedel F; Bugert P; Hoermann K
Int J Mol Med; 2008 Nov; 22(5):575-80. PubMed ID: 18949376
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA; Letarte M
J Med Genet; 2006 Feb; 43(2):97-110. PubMed ID: 15879500
[TBL] [Abstract][Full Text] [Related]
16. Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL; Savas S; Abdalla SA; Piovesan B; Rushlow D; Vandezande K; Zhang E; Ozcelik H; Gallie BL; Letarte M
J Med Genet; 2006 Sep; 43(9):722-8. PubMed ID: 16690726
[TBL] [Abstract][Full Text] [Related]
17. Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells.
Albiñana V; Bernabeu-Herrero ME; Zarrabeitia R; Bernabéu C; Botella LM
Thromb Haemost; 2010 Mar; 103(3):525-34. PubMed ID: 20135064
[TBL] [Abstract][Full Text] [Related]
18. Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia.
Abdalla SA; Cymerman U; Rushlow D; Chen N; Stoeber GP; Lemire EG; Letarte M
Hum Mutat; 2005 Mar; 25(3):320-1. PubMed ID: 15712271
[TBL] [Abstract][Full Text] [Related]
19. Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
Olivieri C; Pagella F; Semino L; Lanzarini L; Valacca C; Pilotto A; Corno S; Scappaticci S; Manfredi G; Buscarini E; Danesino C
J Hum Genet; 2007; 52(10):820-829. PubMed ID: 17786384
[TBL] [Abstract][Full Text] [Related]
20. SMAD4 mutations found in unselected HHT patients.
Gallione CJ; Richards JA; Letteboer TG; Rushlow D; Prigoda NL; Leedom TP; Ganguly A; Castells A; Ploos van Amstel JK; Westermann CJ; Pyeritz RE; Marchuk DA
J Med Genet; 2006 Oct; 43(10):793-7. PubMed ID: 16613914
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
