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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: kapferer seebacher i. 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
Periodontal Ehlers-Danlos Syndrome.
Kapferer-Seebacher I, van Dijk FS, Zschocke J. Kapferer-Seebacher I, et al. 2021 Jul 29. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Jul 29. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 34324282 Free Books & Documents. Review.
Oral manifestations of Ehlers-Danlos syndromes.
Lepperdinger U, Zschocke J, Kapferer-Seebacher I. Lepperdinger U, et al. Among authors: kapferer seebacher i. Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):520-526. doi: 10.1002/ajmg.c.31941. Epub 2021 Nov 6. Am J Med Genet C Semin Med Genet. 2021. PMID: 34741498 Free PMC article. Review.
The Ehlers-Danlos syndromes, rare types.
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. Brady AF, et al. Among authors: kapferer seebacher i. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306225 Review.
Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.
Amberger A, Pertoll J, Traunfellner P, Kapferer-Seebacher I, Stoiber H, Klimaschewski L, Thielens N, Gaboriaud C, Zschocke J. Amberger A, et al. Among authors: kapferer seebacher i. Front Immunol. 2023 Mar 7;14:1157421. doi: 10.3389/fimmu.2023.1157421. eCollection 2023. Front Immunol. 2023. PMID: 36960056 Free PMC article.
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.
Kapferer-Seebacher I, Waisfisz Q, Boesch S, Bronk M, van Tintelen P, Gizewski ER, Groebner R, Zschocke J, van der Knaap MS. Kapferer-Seebacher I, et al. Neurogenetics. 2019 Mar;20(1):1-8. doi: 10.1007/s10048-018-0560-x. Epub 2018 Dec 8. Neurogenetics. 2019. PMID: 30535813 Free PMC 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: kapferer seebacher i. 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.
A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci.
De Almeida SD, Richter GM, de Coo A, Jepsen S, Kapferer-Seebacher I, Dommisch H, Berger K, Laudes M, Lieb W, Loos BG, van der Velde N, van Schoor N, de Groot L; PerioGEN Cohort Group; Blanco J, Carracedo A, Cruz R, Schaefer AS. De Almeida SD, et al. Among authors: kapferer seebacher i. J Clin Periodontol. 2024 Apr;51(4):431-440. doi: 10.1111/jcpe.13922. Epub 2023 Dec 23. J Clin Periodontol. 2024. PMID: 38140892
36 results