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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: frank m. 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
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Byers PH, et al. Among authors: frank m. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306228 Review.
Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.
Henneton P, Legrand A, Giunta C, Frank M. Henneton P, et al. Among authors: frank m. BMJ Case Rep. 2018 Jul 6;2018:bcr2018224423. doi: 10.1136/bcr-2018-224423. BMJ Case Rep. 2018. PMID: 29982180 Free PMC article.
3,582 results