| 1 | ACVRL1, ENG, ORW1, ORW2
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| Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
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| Snellings DA, Gallione CJ, Clark DS, Vozoris NT, Faughnan ME, Marchuk DA.
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| Am J Hum Genet 105(5):894-906. doi: 10.1016/j.ajhg.2019.09.010. Epub 2019 Oct 17.
2019
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| 2 | ACVRL1, ENG, ORW1, ORW2
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| Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
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| McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk J, Stevenson D, Gedge F, Bayrak-Toydemir P.
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| Clin Genet 79(4):335-344. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.
2011
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| 3 | ACVRL1,ENG,ORW1,ORW2
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| Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.
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| Fernandez-Lopez A, Garrido-Martin EM, Sanz-Rodriguez F, Pericacho M, Rodriguez-Barbero A, Eleno N, Lopez-Novoa JM, Duwell A, Vega MA, Bernabeu C, Botella LM.
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| Hum Mol Genet 16(13):1515-33. Epub 2007 Apr 9. 2007
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| 4 | ENG, ORW1, ACVRL1, ORW2
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| Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
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| Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C.
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| J Hum Genet 52(10):820-9. Epub 2007 Sep 5. 2007
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| 5 | ORW1, ORW2, ORW3, ENG, ACVRL1
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| Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
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| Prigoda NL, Savas S, Abdalla SA, Piovesan B, Rushlow D, Vandezande K, Zhang E, Ozcelik H, Gallie BL, Letarte M.
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| J Med Genet 43(9):722-8. Epub 2006 May 11. 2006
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| 6 | ENG, ORW1, ORW2, ACVRL1, JPS, SMAD4
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| Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
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| Abdalla SA, Letarte M.
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| J Med Genet 43(2):97-110. Epub 2005 May 6. 2006
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| 7 | ORW1, ORW2
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| Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.
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| Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R.
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| Am J Med Genet A 140(5):463-70. 2006
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| 8 | ENG, ACVRL1, ORW1, ORW2
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| Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.
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| Wehner LE, Folz BJ, Argyriou L, Twelkemeyer S, Teske U, Geisthoff UW, Werner JA, Engel W, Nayernia K.
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| Clin Genet 69(3):239-45. 2006
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| 9 | ENG, ACVRL1, ORW1, ORW2, ORW5
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| Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
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| Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Riviere S, Goizet C, Faivre L, Plauchu H, Frebourg T, Calender A, Giraud S; French Rendu-Osler Network.
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| Hum Mutat 27(6):598. 2006
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| 10 | ORW1, ORW2, ACVRL1, ENG
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| Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
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| Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.
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| Hum Genet 116(1-2):8-16. Epub 2004 Oct 23. 2005
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| 11 | ACVRL1, ORW2, ENG, ORW1
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| Mutations in endoglin and in activin receptor-like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia.
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| Brusgaard K, Kjeldsen AD, Poulsen L, Moss H, Vase P, Rasmussen K, Kruse TA, Horder M.
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| Clin Genet 66(6):556-61. 2004
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| 12 | ENG, ORW1
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| Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.
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| Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M.
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| Hum Mutat 21(5):482-92. 2003
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| 13 | ORW1, ORW2, ORW3
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| Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).
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| Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H.
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| Am J Med Genet 91(1):66-7. 2000
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| 14 | ENG, ORW1
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| Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.
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| Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr, Dunn J, Letarte M.
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| Pediatr Res 47(1):24-35. 2000
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| 15 | ENG, ORW1
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| Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.
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| Lux A, Gallione CJ, Marchuk DA.
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| Hum Mol Genet 9(5):745-55. 2000
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| 16 | ACVRL1, ENG, ORW1, ORW2
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| Assignment of transforming growth factor beta1 and beta3 and a third new ligand to the type I receptor ALK-1.
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| Lux A, et al.
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| J Biol Chem 274(15):9984-92. 1999
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| 17 | ENG, ORW1
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| Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
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| Pece-Barbara N, et al.
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| Hum Mol Genet 8(12):2171-2181 1999
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| 18 | ENG, ORW1
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| Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
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| Gallione CJ, et al.
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| Hum Mutat 11 : 286-294. 1998
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| 19 | ENG, ORW1
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| Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1.
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| Rius C, et al.
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| Blood 92 : 4677-4690. 1998
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| 20 | ENG, ORW1
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| Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia.
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| Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG.
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| Am J Hum Genet 61(1):68-79. 1997
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| 21 | ENG, ORW1
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| Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative.
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| Pece N, Vera S, Cymerman U, White RI Jr, Wrana JL, Letarte M.
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| J Clin Invest 100(10):2568-79. 1997
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| 22 | ORW1, ENG
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| Clinical heterogeneity in hereditary haemorrhagic telangiectasia : are pulmonary arteriovenous malformations more common in families linked to endoglin?
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| Berg JN, et al.
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| J Med Genet 33 : 256-257. 1996
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| 23 | ORW1
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| A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.
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| McDonald MT, et al.
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| Nat Genet 6 : 197-204. 1994
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| 24 | ORW1
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| A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3.
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| Shovlin CL, et al.
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| Nat Genet 6 : 205-209. 1994
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| 25 | ORW1
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| Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity. (abstr)
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| Breedveld GJ, et al.
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| Am J Hum Genet 55 : A349. 1994
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| 26 | ORW1, ENG
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| Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.
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| McAllister KA, et al.
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| Nat Genet 8 : 345-351. 1994
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| 27 | ORW1, ORW2
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| Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
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| Porteous MEM, et al.
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| J Med Genet 31 : 925-926. 1994
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| 28 | ORW1, ORW2
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| Genetic heterogeneity in hereditary haemorrhagic telangiectasia : possible correlation with clinical phenotype.
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| McAllister KA, et al.
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| J Med Genet 31 : 927-932. 1994
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| 29 | ORW1
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| Linkage of hereditary haemorrhagic telangiectasia to chromosome 9q34 and evidence for locus heterogeneity.
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| Heutink P, et al.
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| J Med Genet 31 : 933-936. 1994
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| 30 | ORW1
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| Genetic mapping of hereditary haemorrhagic telangiectasia. (abstr)
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| Marchuk DA, et al.
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| Ann Hum Genet 58 : 224. 1994
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| 31 | ORW1
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| Genetic linkage of hereditary hemorrhagic telangiectasia to markers on 9q.
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| McDonald M, et al.
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| Am J Hum Genet 53 : 140. 1993
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