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144 results

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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
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
Clinical and Therapeutic Aspects of Linear Psoriasis: A Study of 30 Cases.
Say M, Boralévi F, Lenormand C, Bursztejn AC, Estève E, Phan A, Bourrat E, Lacour JP, Richard MA, Acher A, Jullien D, Beneton N, Descamps V, Bodemer C, Lagaude M, Chiaverini C, Mahé E; Groupe de Recherche sur le Psoriasis de la Société Française de Dermatologie, and the Groupe de Recherche de la Société Française de Dermatologie Pédiatrique. Say M, et al. Among authors: bursztejn ac. Am J Clin Dermatol. 2018 Aug;19(4):609-615. doi: 10.1007/s40257-018-0354-9. Am J Clin Dermatol. 2018. PMID: 29594973
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Ravel JM, Comel M, Wandzel M, Bronner M, Tatopoulos A, Renaud M, Lambert L, Bursztejn AC, Bonnet C. Ravel JM, et al. Among authors: bursztejn ac. Am J Med Genet A. 2022 Nov;188(11):3343-3349. doi: 10.1002/ajmg.a.62954. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35972031 Free PMC article. Review.
144 results