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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: francomano ca. 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.
Pain management in the Ehlers-Danlos syndromes.
Chopra P, Tinkle B, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C. Chopra P, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):212-219. doi: 10.1002/ajmg.c.31554. Epub 2017 Feb 10. Am J Med Genet C Semin Med Genet. 2017. PMID: 28186390 Review.
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC. Henderson FC Sr, et al. Among authors: francomano ca. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):195-211. doi: 10.1002/ajmg.c.31549. Epub 2017 Feb 21. Am J Med Genet C Semin Med Genet. 2017. PMID: 28220607 Review.
The international consortium on the Ehlers-Danlos syndromes.
Bloom L, Byers P, Francomano C, Tinkle B, Malfait F; Steering Committee of The International Consortium on the Ehlers-Danlos Syndromes. Bloom L, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):5-7. doi: 10.1002/ajmg.c.31547. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306227
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. 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
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, Gass JM, Cousin MA, Boczek NJ, Mitkov MV, Cappel MA, Francomano CA, Parisi JE, Klee EW, Faqeih E, Alkuraya FS, Layne MD, McDonnell NB, Atwal PS. Blackburn PR, et al. Among authors: francomano ca. Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29. Am J Hum Genet. 2018. PMID: 29606302 Free PMC article.
177 results