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Page 1
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D. El Chehadeh S, et al. Among authors: bursztejn ac. Clin Genet. 2021 Aug;100(2):206-212. doi: 10.1111/cge.13972. Epub 2021 Apr 29. Clin Genet. 2021. PMID: 33890303
High prevalence of extracutaneous involvement in ITG junctional epidermolysis bullosa.
Bonigen J, Charbit-Henrion F, Leclerc-Mercier S, Rosenthal JM, Bursztejn AC, Berthaud R, Steffan J, Chiaverini C, Hadj-Rabia S, Bodemer C. Bonigen J, et al. Among authors: bursztejn ac. J Eur Acad Dermatol Venereol. 2025 Oct;39(10):e862-e865. doi: 10.1111/jdv.20579. Epub 2025 Feb 19. J Eur Acad Dermatol Venereol. 2025. PMID: 39969087 No abstract available.
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Bessis D, Bursztejn AC, Morice-Picard F, Capri Y, Barbarot S, Aubert H, Bodet D, Bourrat E, Chiaverini C, Poujade L, Willems M, Rouanet J, Dompmartin-Blanchère A, Geneviève D, Gerard M, Ginglinger E, Hadj-Rabia S, Martin L, Mazereeuw-Hautier J, Bibas N, Molinari N, Herman F, Phan A, Rod J, Roger H, Sigaudy S, Ziegler A, Vial Y, Verloes A, Cavé H, Lacombe D. Bessis D, et al. Among authors: bursztejn ac. J Eur Acad Dermatol Venereol. 2024 Sep;38(9):1818-1827. doi: 10.1111/jdv.19996. Epub 2024 Apr 10. J Eur Acad Dermatol Venereol. 2024. PMID: 38595321
Vascular endothelial growth factor, tissue factor, coagulation and fibrinolysis markers in slow-flow vascular malformations: a prospective study of treatment with sirolimus.
Maruani A, Moineau AG, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengelle C, Woillard JB, Herbreteau D, Le Touze A, Binet A, Morel B, Bourgoin H, Gissot V, Giraudeau B, Gruel Y, Tavernier E, Rollin J. Maruani A, et al. Among authors: bursztejn ac. Br J Dermatol. 2023 Jan 23;188(1):152-154. doi: 10.1093/bjd/ljac028. Br J Dermatol. 2023. PMID: 36689523 Free article. No abstract available.
Aortitis: A new feature of Schnitzler syndrome.
Bursztejn AC, Imperiale A, Lipsker D. Bursztejn AC, et al. JAAD Case Rep. 2017 Sep 8;3(5):454-456. doi: 10.1016/j.jdcr.2017.06.016. eCollection 2017 Sep. JAAD Case Rep. 2017. PMID: 28971133 Free PMC article. No abstract available.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L. Garde A, et al. Among authors: bursztejn ac. Clin Genet. 2021 May;99(5):650-661. doi: 10.1111/cge.13918. Epub 2021 Jan 20. Clin Genet. 2021. PMID: 33415748
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Faivre L, et al. Among authors: bursztejn ac. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14. Clin Genet. 2023. PMID: 37580112
169 results