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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; HHT Foundation International - Guidelines Working Group. Faughnan ME, et al. Among authors: westermann cj. J Med Genet. 2011 Feb;48(2):73-87. doi: 10.1136/jmg.2009.069013. Epub 2009 Jun 23. J Med Genet. 2011. PMID: 19553198 Free article.
Life expextancy of parents with Hereditary Haemorrhagic Telangiectasia.
de Gussem EM, Edwards CP, Hosman AE, Westermann CJ, Snijder RJ, Faughnan ME, Mager JJ. de Gussem EM, et al. Among authors: westermann cj. Orphanet J Rare Dis. 2016 Apr 22;11:46. doi: 10.1186/s13023-016-0427-x. Orphanet J Rare Dis. 2016. PMID: 27102204 Free PMC article.
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA. Gallione CJ, et al. Among authors: westermann cj. Hum Mutat. 1998;11(4):286-94. doi: 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B. Hum Mutat. 1998. PMID: 9554745
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.
Letteboer TG, Mager JJ, Snijder RJ, Koeleman BP, Lindhout D, Ploos van Amstel JK, Westermann CJ. Letteboer TG, et al. Among authors: westermann cj. J Med Genet. 2006 Apr;43(4):371-7. doi: 10.1136/jmg.2005.035451. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155196 Free PMC article.
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK. Letteboer TG, et al. Among authors: westermann cj. Hum Genet. 2005 Jan;116(1-2):8-16. doi: 10.1007/s00439-004-1196-5. Epub 2004 Oct 23. Hum Genet. 2005. PMID: 15517393
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. Gallione CJ, et al. Among authors: westermann cj. J Med Genet. 2006 Oct;43(10):793-7. doi: 10.1136/jmg.2006.041517. Epub 2006 Apr 13. J Med Genet. 2006. PMID: 16613914 Free PMC article.
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