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The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: grahame r. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, Norsworthy P, Biggs J, Abdullah A, Ross D, Black HA, Ferguson D, Cheshire NJ, Kazkaz H, Grahame R, Ghali N, Vandersteen A, Pope FM, Aitman TJ. Weerakkody RA, et al. Among authors: grahame r. Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24. Genet Med. 2016. PMID: 27011056 Free article.
The genetic basis of the joint hypermobility syndromes.
Malfait F, Hakim AJ, De Paepe A, Grahame R. Malfait F, et al. Among authors: grahame r. Rheumatology (Oxford). 2006 May;45(5):502-7. doi: 10.1093/rheumatology/kei268. Epub 2006 Jan 17. Rheumatology (Oxford). 2006. PMID: 16418200 Review. No abstract available.
Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated?
Remvig L, Engelbert RH, Berglund B, Bulbena A, Byers PH, Grahame R, Juul-Kristensen B, Lindgren KA, Uitto J, Wekre LL. Remvig L, et al. Among authors: grahame r. Rheumatology (Oxford). 2011 Jun;50(6):1169-71. doi: 10.1093/rheumatology/ker140. Epub 2011 Apr 10. Rheumatology (Oxford). 2011. PMID: 21482540 No abstract available.
223 results