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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: burrows np. 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
Ehlers-Danlos syndrome has varied molecular mechanisms.
Pope FM, Burrows NP. Pope FM, et al. Among authors: burrows np. J Med Genet. 1997 May;34(5):400-10. doi: 10.1136/jmg.34.5.400. J Med Genet. 1997. PMID: 9152838 Free PMC article. Review. No abstract available.
Elastosis perforans serpiginosa and associated disorders.
Mehta RK, Burrows NP, Payne CM, Mendelsohn SS, Pope FM, Rytina E. Mehta RK, et al. Among authors: burrows np. Clin Exp Dermatol. 2001 Sep;26(6):521-4. doi: 10.1046/j.1365-2230.2001.00882.x. Clin Exp Dermatol. 2001. PMID: 11678881 Review.
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.
Rahman N, Dunstan M, Teare MD, Hanks S, Douglas J, Coleman K, Bottomly WE, Campbell ME, Berglund B, Nordenskjöld M, Forssell B, Burrows N, Lunt P, Young I, Williams N, Bignell GR, Futreal PA, Pope FM. Rahman N, et al. Am J Hum Genet. 2003 Jul;73(1):198-204. doi: 10.1086/376416. Epub 2003 May 29. Am J Hum Genet. 2003. PMID: 12776252 Free PMC article.
Ehlers-Danlos syndrome, classical type.
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Bowen JM, et al. Among authors: burrows np. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Am J Med Genet C Semin Med Genet. 2017. PMID: 28192633 Free article. Review.
155 results