258 related articles for article (PubMed ID: 28231770)
21. Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.
Cymerman U; Vera S; Karabegovic A; Abdalla S; Letarte M
Hum Mutat; 2003 May; 21(5):482-92. PubMed ID: 12673790
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM; Lastella P; Di Giacomo MC; Resta N; Suppressa P; Pasculli G; Sabbà C; Guanti G
Hum Mutat; 2006 Feb; 27(2):213-4. PubMed ID: 16429404
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Tusseau M; Eyries M; Chatron N; Coulet F; Guichet A; Colin E; Demeer B; Maillard H; Thevenon J; Lavigne C; Saillour V; Paris C; De Sainte Agathe JM; Pujalte M; Guilhem A; Dupuis-Girod S; Lesca G
Eur J Med Genet; 2024 Apr; 68():104919. PubMed ID: 38355093
[TBL] [Abstract][Full Text] [Related]
26. Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia.
Morita S; Nomura S; Azuma K; Chida-Nagai A; Furutani Y; Inai K; Inoue T; Niimi Y; Iizuka Y; Tsutsumi Y; Ishizaki R; Yamagishi H; Kawamata T; Akagawa H
Clin Genet; 2024 May; 105(5):543-548. PubMed ID: 38225712
[TBL] [Abstract][Full Text] [Related]
27. Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Bernabéu-Herrero ME; Patel D; Bielowka A; Zhu J; Jain K; Mackay IS; Chaves Guerrero P; Emanuelli G; Jovine L; Noseda M; Marciniak SJ; Aldred MA; Shovlin CL
Blood; 2024 May; 143(22):2314-2331. PubMed ID: 38457357
[TBL] [Abstract][Full Text] [Related]
28. Hereditary hemorrhagic telangiectasia is caused by the Q490X mutation of the ACVRL1 gene in a large Arab family: support of homozygous lethality.
El-Harith el-HA; Kühnau W; Schmidtke J; Gadzicki D; Ahmed M; Krawczak M; Stuhrmann M
Eur J Med Genet; 2006; 49(4):323-30. PubMed ID: 16829353
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.
Shovlin CL; Hughes JM; Scott J; Seidman CE; Seidman JG
Am J Hum Genet; 1997 Jul; 61(1):68-79. PubMed ID: 9245986
[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. Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience.
Mei-Zahav M; Letarte M; Faughnan ME; Abdalla SA; Cymerman U; MacLusky IB
Arch Pediatr Adolesc Med; 2006 Jun; 160(6):596-601. PubMed ID: 16754821
[TBL] [Abstract][Full Text] [Related]
33. Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.
Kjeldsen AD; Brusgaard K; Poulsen L; Kruse T; Rasmussen K; Green A; Vase P
Am J Med Genet; 2001 Feb; 98(4):298-302. PubMed ID: 11170071
[TBL] [Abstract][Full Text] [Related]
34. A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.
Yan ZM; Fan ZP; Du J; Hua H; Xu YY; Wang SL
J Dent Res; 2006 Aug; 85(8):705-10. PubMed ID: 16861286
[TBL] [Abstract][Full Text] [Related]
35. A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.
Yamaguchi H; Azuma H; Shigekiyo T; Inoue H; Saito S
Thromb Haemost; 1997 Feb; 77(2):243-7. PubMed ID: 9157574
[TBL] [Abstract][Full Text] [Related]
36. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia.
Kjeldsen AD; Møller TR; Brusgaard K; Vase P; Andersen PE
J Intern Med; 2005 Oct; 258(4):349-55. PubMed ID: 16164574
[TBL] [Abstract][Full Text] [Related]
37. Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan.
Dakeishi M; Shioya T; Wada Y; Shindo T; Otaka K; Manabe M; Nozaki J; Inoue S; Koizumi A
Hum Mutat; 2002 Feb; 19(2):140-8. PubMed ID: 11793473
[TBL] [Abstract][Full Text] [Related]
38. Hereditary Haemorrhagic Telangiectasia (HHT): genetic and molecular aspects.
Lenato GM; Guanti G
Curr Pharm Des; 2006; 12(10):1173-93. PubMed ID: 16611099
[TBL] [Abstract][Full Text] [Related]
39. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.
Gallione CJ; Scheessele EA; Reinhardt D; Duits AJ; Berg JN; Westermann CJ; Marchuk DA
Hum Genet; 2000 Jul; 107(1):40-4. PubMed ID: 10982033
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
