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Page 1
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Verstraeten A, Perik MHAM, Baranowska AA, Meester JAN, Van Den Heuvel L, Bastianen J, Kempers M, Krapels IPC, Maas A, Rideout A, Vandersteen A, Sobey G, Johnson D, Fransen E, Ghali N, Webb T, Al-Hussaini A, de Leeuw P, Delmotte P, Lopez-Sublet M, Pappaccogli M, Sprynger M, Toubiana L; European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI); Van Laer L, Van Dijk FS, Vikkula M, Samani NJ, Persu A, Adlam D, Loeys B; Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI). Verstraeten A, et al. Among authors: sobey g. Circulation. 2020 Sep 8;142(10):1021-1024. doi: 10.1161/CIRCULATIONAHA.120.045946. Epub 2020 Sep 8. Circulation. 2020. PMID: 32897753 Free article. No abstract available.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M. Giunta C, et al. Among authors: sobey g. Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15. Genet Med. 2018. PMID: 28617417 Free PMC article.
Ehlers-Danlos syndromes.
Ghali N, Sobey G, Burrows N. Ghali N, et al. Among authors: sobey g. BMJ. 2019 Sep 18;366:l4966. doi: 10.1136/bmj.l4966. BMJ. 2019. PMID: 31533917 Review. No abstract available.
Authors' reply to Mahmood, Borumandi, and Williams.
Ghali N, Sobey G, Burrows N. Ghali N, et al. Among authors: sobey g. BMJ. 2019 Oct 23;367:l6125. doi: 10.1136/bmj.l6125. BMJ. 2019. PMID: 31645329 No abstract available.
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: sobey g. 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
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: sobey g. 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
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: sobey g. 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.
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature.
Kapferer-Seebacher I, Oakley-Hannibal E, Lepperdinger U, Johnson D, Ghali N, Brady AF, Sobey G, Zschocke J, van Dijk FS. Kapferer-Seebacher I, et al. Among authors: sobey g. Genet Med. 2021 Feb;23(2):316-322. doi: 10.1038/s41436-020-00985-y. Epub 2020 Oct 2. Genet Med. 2021. PMID: 33005042 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: sobey g. 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.
33 results