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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A; NIHR BioResource; Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, van Dijk FS, Cordell HJ, Aitman TJ. Vandersteen AM, et al. Among authors: pope fm. J Med Genet. 2024 Feb 21;61(3):232-238. doi: 10.1136/jmg-2023-109329. J Med Genet. 2024. PMID: 37813462 Free 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. Among authors: pope fm. Front Genet. 2023 May 31;14:1136339. doi: 10.3389/fgene.2023.1136339. eCollection 2023. Front Genet. 2023. PMID: 37323685 Free PMC article.
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. Among authors: pope fm. 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.
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C, Brady AF, Pope FM, Vandersteen A, Baker D, Cheema H, Sobey G, Johnson D, von Klemperer K, Kazkaz H, van Dijk F, Ghali N. Angwin C, et al. Among authors: pope fm. J Med Genet. 2020 Nov;57(11):769-776. doi: 10.1136/jmedgenet-2019-106689. Epub 2020 May 28. J Med Genet. 2020. PMID: 32467296
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS. Ayoub S, et al. Among authors: pope fm. Am J Med Genet A. 2020 May;182(5):994-1007. doi: 10.1002/ajmg.a.61523. Epub 2020 Feb 24. Am J Med Genet A. 2020. PMID: 32091183
199 results