| 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, ORW2
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| Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
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| Hume AN, John A, Akawi NA, Al-Awadhi AM, Al-Suwaidi SS, Al-Gazali L, Ali BR.
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| Mol Cell Biochem 373(1-2):247-57. doi: 10.1007/s11010-012-1496-3. Epub 2012 Nov 4.
2013
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| 3 | 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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| 4 | ACVRL1, ORW2
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| Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
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| Lesca G, Genin E, Blachier C, Olivieri C, Coulet F, Brunet G, Dupuis-Girod S, Buscarini E, Soubrier F, Calender A, Danesino C, Giraud S, Plauchu H; French-Italian HHT Network.
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| Eur J Hum Genet 16(6):742-9. Epub 2008 Feb 20. 2008
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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | ACVRL1, ENG, ORW2
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| A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2.
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| Yan ZM, Fan ZP, Du J, Hua H, Xu YY, Wang SL.
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| J Dent Res 85(8):705-10. 2006
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| 12 | ACVRL1, ENG, ORW2
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| Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.
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| Argyriou L, Twelkemeyer S, Panchulidze I, Wehner LE, Teske U, Engel W, Nayernia K.
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| Int J Mol Med 17(4):655-9. 2006
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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | ACVRL1, ORW2
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| Disease-associated mutations in conserved residues of ALK-1 kinase domain.
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| Abdalla SA, Cymerman U, Johnson RM, Deber CM, Letarte M.
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| Eur J Hum Genet 11(4):279-87. 2003
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| 17 | ACVRL1, ORW2
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| Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
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| Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Laitinen T, Morrell NW, Trembath RC, Halme M, Raisanen-Sokolowski A.
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| J Med Genet 40(12):865-71. 2003
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| 18 | ACVRL1, ORW2
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| Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.
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| Kjeldsen AD, Brusgaard K, Poulsen L, Kruse T, Rasmussen K, Green A, Vase P.
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| Am J Med Genet 98(4):298-302. 2001
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| 19 | ACVRL1, ORW2
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| Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
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| Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L.
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| N Engl J Med 345(5):325-34. 2001
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| 20 | 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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| 21 | ACVRL1, ORW2
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| Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
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| Abdalla SA, Pece-Barbara N, Vera S, Tapia E, Paez E, Bernabeu C, Letarte M.
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| Hum Mol Genet 9(8):1227-37. 2000
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| 22 | 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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| 23 | ACVRL1, ORW2
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| The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
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| Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA.
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| Am J Hum Genet 61(1):60-7. 1997
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| 24 | ACVRL1, ORW2
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| Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
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| Johnson DW, et al.
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| Nat Genet 13 : 189-195. 1996
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| 25 | ORW2, ORW3
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| A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.
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| Vincent P, et al.
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| Hum Mol Genet 4 : 945-949. 1995
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| 26 | 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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| 27 | 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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