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308 results

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Page 1
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N, Greff G, Obringer C, Kempf N, Gasnier C, Tarabeux J, Miguet M, Baujat G, Bessis D, Bretones P, Cavau A, Digeon B, Doco-Fenzy M, Doray B, Feillet F, Gardeazabal J, Gener B, Julia S, Llano-Rivas I, Mazur A, Michot C, Renaldo-Robin F, Rossi M, Sabouraud P, Keren B, Depienne C, Muller J, Mandel JL, Laugel V. Calmels N, et al. Among authors: bessis d. Orphanet J Rare Dis. 2016 Mar 22;11:26. doi: 10.1186/s13023-016-0408-0. Orphanet J Rare Dis. 2016. PMID: 27004399 Free PMC article.
[Familial dyskeratotic comedone].
Michot C, Guilhou JJ, Bessis D. Michot C, et al. Among authors: bessis d. Ann Dermatol Venereol. 2004 Aug-Sep;131(8-9):811-3. doi: 10.1016/s0151-9638(04)93766-0. Ann Dermatol Venereol. 2004. PMID: 15505550 French.
[Huriez syndrome].
Michot C, Girard C, Guillot B, Bessis D. Michot C, et al. Among authors: bessis d. Ann Dermatol Venereol. 2005 Aug-Sep;132(8-9 Pt 1):727. doi: 10.1016/s0151-9638(05)79431-x. Ann Dermatol Venereol. 2005. PMID: 16230933 French. No abstract available.
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Kuentz P, et al. Among authors: bessis d. Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2. Genet Med. 2017. PMID: 28151489 Free article.
TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1γ positive cancer-associated dermatomyositis.
Cordel N, Derambure C, Coutant S, Mariette X, Jullien D, Debarbieux S, Chosidow O, Meyer A, Bessis D, Joly P, Mathian A, Levesque H, Sabourin JC, Tournier I, Boyer O; OncoMyositis Study group. Cordel N, et al. Among authors: bessis d. Rheumatology (Oxford). 2021 Dec 1;60(12):5863-5867. doi: 10.1093/rheumatology/keab260. Rheumatology (Oxford). 2021. PMID: 33764396
Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.
Legoupil S, Bessis D, Picard F, Mallet S, Mazereeuw J, Phan A, Dupin-Deguine D, Kalamarides M; Research Group of the French Society of Paediatric Dermatology; Chiaverini C. Legoupil S, et al. Among authors: bessis d. Orphanet J Rare Dis. 2022 Jun 21;17(1):242. doi: 10.1186/s13023-022-02379-6. Orphanet J Rare Dis. 2022. PMID: 35729665 Free PMC article.
Migraine with aura induced by efalizumab.
Kluger N, Heroum C, Michot C, Guillot B, Bessis D. Kluger N, et al. Among authors: bessis d. Clin Exp Dermatol. 2009 Oct;34(7):e401-2. doi: 10.1111/j.1365-2230.2009.03378.x. Epub 2009 Jun 22. Clin Exp Dermatol. 2009. PMID: 19549238 No abstract available.
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: bessis d. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C, Frouin E, Seyger M, Girard M, Puechberty J, Costes V, Rodière M, Carbasse A, Jeziorski E, Portales P, Sarrabay G, Mondain M, Jorgensen C, Apparailly F, Hoppenreijs E, Touitou I, Geneviève D. Grandemange S, et al. Among authors: bessis d. Ann Rheum Dis. 2017 Jul;76(7):1191-1198. doi: 10.1136/annrheumdis-2016-210021. Epub 2016 Dec 13. Ann Rheum Dis. 2017. PMID: 27965258
308 results