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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: bowen jm. 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, classical type.
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Bowen JM, et al. 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.
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Green C, Ghali N, Akilapa R, Angwin C, Baker D, Bartlett M, Bowen J, Brady AF, Brock J, Chamberlain E, Cheema H, McConnell V, Crookes R, Kazkaz H, Johnson D, Pope FM, Vandersteen A, Sobey G, van Dijk FS. Green C, et al. Genet Med. 2020 Oct;22(10):1576-1582. doi: 10.1038/s41436-020-0850-1. Epub 2020 Jun 23. Genet Med. 2020. PMID: 32572181 Free article.
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
Lepperdinger U, Angwin C, Milnes D, Sobey G, Ghali N, Johnson D, Brady AF, Kammin T, Bowen JM, Gröbner R, Lundberg P, Scott J, Zschocke J, van Dijk FS, Kapferer-Seebacher I. Lepperdinger U, et al. Among authors: bowen jm. J Clin Periodontol. 2022 Dec;49(12):1244-1252. doi: 10.1111/jcpe.13698. Epub 2022 Jul 29. J Clin Periodontol. 2022. PMID: 35833531 Free PMC article.
Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.
Angwin C, Zschocke J, Kammin T, Björck E, Bowen J, Brady AF, Burns H, Cummings C, Gardner R, Ghali N, Gröbner R, Harris J, Higgins M, Johnson D, Lepperdinger U, Milnes D, Pope FM, Sehra R, Kapferer-Seebacher I, Sobey G, Van Dijk FS. Angwin C, et al. Front Genet. 2023 May 31;14:1136339. doi: 10.3389/fgene.2023.1136339. eCollection 2023. Front Genet. 2023. PMID: 37323685 Free PMC article.
An exemplary model of genetic counselling for highly specialised services.
Harris J, Bartlett M, Baker D, Berlin C, Bowen J, Cummings C, Fallows C, Green C, Griffin J, Julier K, Kammin T, Sehra R, Stacey C, Cobben J, Ghali N, Johnson D, Sobey G, van Dijk FS. Harris J, et al. J Community Genet. 2023 Apr;14(2):115-119. doi: 10.1007/s12687-023-00640-4. Epub 2023 Mar 9. J Community Genet. 2023. PMID: 36892793 Free PMC article. Review.
398 results