202 related articles for article (PubMed ID: 37695357)
21. 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]
22. 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]
23. An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms.
Arthur HM; Roman BL
Front Med (Lausanne); 2022; 9():973964. PubMed ID: 36250069
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. SMAD4 Prevents Flow Induced Arteriovenous Malformations by Inhibiting Casein Kinase 2.
Ola R; Künzel SH; Zhang F; Genet G; Chakraborty R; Pibouin-Fragner L; Martin K; Sessa W; Dubrac A; Eichmann A
Circulation; 2018 Nov; 138(21):2379-2394. PubMed ID: 29976569
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Pulmonary Vascular Complications in Hereditary Hemorrhagic Telangiectasia and the Underlying Pathophysiology.
Bofarid S; Hosman AE; Mager JJ; Snijder RJ; Post MC
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33801690
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.
Latif MA; Sobreira NLD; Guthrie KS; Motaghi M; Robinson GM; Shafaat O; Gong AJ; Weiss CR
Am J Med Genet A; 2021 Jul; 185(7):1981-1990. PubMed ID: 33768677
[TBL] [Abstract][Full Text] [Related]
32. Hereditary hemorrhagic telangiectasia in Japanese patients.
Komiyama M; Ishiguro T; Yamada O; Morisaki H; Morisaki T
J Hum Genet; 2014 Jan; 59(1):37-41. PubMed ID: 24196379
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Hereditary hemorrhagic telangiectasia: an update on clinical manifestations and diagnostic measures.
Sadick H; Sadick M; Götte K; Naim R; Riedel F; Bran G; Hörmann K
Wien Klin Wochenschr; 2006 Mar; 118(3-4):72-80. PubMed ID: 16703249
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. BMP10-mediated ALK1 signaling is continuously required for vascular development and maintenance.
Capasso TL; Li B; Volek HJ; Khalid W; Rochon ER; Anbalagan A; Herdman C; Yost HJ; Villanueva FS; Kim K; Roman BL
Angiogenesis; 2020 May; 23(2):203-220. PubMed ID: 31828546
[TBL] [Abstract][Full Text] [Related]
37. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network.
Lesca G; Olivieri C; Burnichon N; Pagella F; Carette MF; Gilbert-Dussardier B; Goizet C; Roume J; Rabilloud M; Saurin JC; Cottin V; Honnorat J; Coulet F; Giraud S; Calender A; Danesino C; Buscarini E; Plauchu H;
Genet Med; 2007 Jan; 9(1):14-22. PubMed ID: 17224686
[TBL] [Abstract][Full Text] [Related]
38. Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
Giraud S; Bardel C; Dupuis-Girod S; Carette MF; Gilbert-Dussardier B; Riviere S; Saurin JC; Eyries M; Patri S; Decullier E; Calender A; Lesca G
Orphanet J Rare Dis; 2020 Sep; 15(1):254. PubMed ID: 32962750
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care.
Dupuis-Girod S; Bailly S; Plauchu H
J Thromb Haemost; 2010 Jul; 8(7):1447-56. PubMed ID: 20345718
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]