217 related articles for article (PubMed ID: 18607909)
21. 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]
22. Identification of clinically relevant mosaicism in type I hereditary haemorrhagic telangiectasia.
Lee NP; Matevski D; Dumitru D; Piovesan B; Rushlow D; Gallie BL
J Med Genet; 2011 May; 48(5):353-7. PubMed ID: 21415079
[TBL] [Abstract][Full Text] [Related]
23. 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.
Damjanovich K; Langa C; Blanco FJ; McDonald J; Botella LM; Bernabeu C; Wooderchak-Donahue W; Stevenson DA; Bayrak-Toydemir P
Orphanet J Rare Dis; 2011 Dec; 6():85. PubMed ID: 22192717
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG; Zewald RA; Kamping EJ; de Haas G; Mager JJ; Snijder RJ; Lindhout D; Hennekam FA; Westermann CJ; Ploos van Amstel JK
Hum Genet; 2005 Jan; 116(1-2):8-16. PubMed ID: 15517393
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia.
Suzuki A; Nakashima D; Miyawaki Y; Fujita J; Maki A; Fujimori Y; Takagi A; Murate T; Teranishi M; Matsushita T; Saito H; Kojima T
Thromb Res; 2012 May; 129(5):e200-8. PubMed ID: 22385575
[TBL] [Abstract][Full Text] [Related]
30. [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]
31. Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.
Brusgaard K; Kjeldsen AD; Poulsen L; Moss H; Vase P; Rasmussen K; Kruse TA; Hørder M
Clin Genet; 2004 Dec; 66(6):556-61. PubMed ID: 15521985
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia.
Tørring PM; Larsen MJ; Kjeldsen AD; Ousager LB; Tan Q; Brusgaard K
Microvasc Res; 2015 May; 99():118-26. PubMed ID: 25892364
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia.
Argyriou L; Pfitzmann R; Wehner LE; Twelkemeyer S; Neuhaus P; Nayernia K; Engel W
Liver Transpl; 2005 Sep; 11(9):1132-5. PubMed ID: 16123970
[TBL] [Abstract][Full Text] [Related]
36. Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J; Grant K; Chao EC; Walther SE; Ganguly A
Hum Genet; 2010 Jul; 128(1):61-77. PubMed ID: 20414677
[TBL] [Abstract][Full Text] [Related]
37. Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A; Fernandez-L A; García-Alegria E; Albiñana V; Garrido-Martin EM; Blanco FJ; Zarrabeitia R; Perez-Molino A; Bernabeu-Herrero ME; Ojeda ML; Fernandez-Luna JL; Bernabeu C; Botella LM
BMC Med Genet; 2008 Aug; 9():75. PubMed ID: 18673552
[TBL] [Abstract][Full Text] [Related]
38. Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R; Iriarte A; Mora-Luján JM; Patier JL; López-Wolf D; Ojeda A; Torralba MA; Juyol MC; Gil R; Añón S; Salazar-Mendiguchía J; Riera-Mestre A;
Orphanet J Rare Dis; 2020 Jun; 15(1):138. PubMed ID: 32503579
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]