References
- Porteous ME, Burn J, Proctor SJ. Hereditary haemorrhagic telangiectasia: a clinical analysis. J Med Genet 1992; 29: 527–30
- Vase P, Grove O. Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 1986; 91: 1079–83
- Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, et al. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutation in Dutch patients. Hum Genet 2005; 116: 8–16
- Geisthoff, UW, Heckmann, K, D'Amelio, R, Grünewald, S, Knöbber, D, Falkai, P, , et al. Health-related quality of life in hereditary hemorrhagic telangiectasia. Otolaryngol Head Neck Surg 2007;136:726–33; discussion 734–5.
- Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91: 66–7
- Pasculli G, Resta F, Guastamacchia E, Di Gennaro L, Suppressa P, Sabbà C. Health-related quality of life in a rare disease: hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease. Qual Life Res 2004; 13: 1715–23
- Bayrak-Toydemir P, McDonald J, Arkusu N, Toydemir RM, Calderon F, Tuncali T, et al. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet 2006; 140: 2155–62
- World Medical Association Declaration of Helsinki. Ethical principles for medical research involving human subjects. JAMA 2000;284:3043–5.
- Schulte C, Geisthoff U, Lux A, Kupka S, Zenner HP, Blin N, et al. High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Hum Mutat 2005; 25: 595–601
- McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994; 8: 345–51
- Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996; 13: 189–95
- Garratt A, Schmidt L, Mackintosh A, Fitzpatrick R. Quality of life measurement: bibliographic study of patient assessed health outcome measures. BMJ 2002; 324: 1417
- Ware JE. The SF-36 Health Survey Update. Spine 2000; 25: 3130–19
- Bullinger M, Kirchberger I. SF-36 Fragebogen zum Gesundheitszustand. Handanweisung. Hogrefe Verlag für Psychologie Göttingen, Bern 1998
- Kurth BM, Ellert U. The SF-36 questionnaire and its usefulness in population studies: results of the German Health Interview and Examination Survey 1998. Soz Präventivmed 2002; 47: 266–77
- Cohen J. Quantitative methods in psychology: a power primer. Psychol Bull 1992; 112: 155–9
- Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?. J Med Genet 1996; 33: 256–7
- Marchuk DA. Genetic abnormalities in hereditary hemorrhagic telangiectasia. Curr Opin Hematol 1998; 5: 332–8
- McDonald JE, Miller FJ, Hallam SE, Nelson L, Marchuk DA, Ward KJ. Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred. Am J Med Genet 2000; 93: 320–7
- Karapantzos I, Tsimpiris N, Goulis DG, Van Hoecke H, Van Cauwenberge P, Danielides V. Management of epistaxis in hereditary hemorrhagic teleangiectasia by Nd:YAG laser and quality of life assessment using HR-QOL questionnaire. Eur Arch Otorhinolaryngol 2005; 262: 830–3