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Page 1
Fetal phenotypes in otopalatodigital spectrum disorders.
Naudion S, Moutton S, Coupry I, Sole G, Deforges J, Guerineau E, Hubert C, Deves S, Pilliod J, Rooryck C, Abel C, Le Breton F, Collardeau-Frachon S, Cordier MP, Delezoide AL, Goldenberg A, Loget P, Melki J, Odent S, Patrier S, Verloes A, Viot G, Blesson S, Bessières B, Lacombe D, Arveiler B, Goizet C, Fergelot P. Naudion S, et al. Among authors: deforges j. Clin Genet. 2016 Mar;89(3):371-7. doi: 10.1111/cge.12679. Epub 2015 Oct 29. Clin Genet. 2016. PMID: 26404489
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: deforges j. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: deforges j. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Angelini C, Durand CM, Fergelot P, Deforges J, Vital A, Menegon P, Sarrazin E, Bellance R, Mathis S, Gonzalez V, Renaud M, Frismand S, Schmitt E, Rouanet M, Burglen L, Chabrol B, Desnous B, Arveiler B, Stevanin G, Coupry I, Goizet C. Angelini C, et al. Among authors: deforges j. Mov Disord. 2023 Nov;38(11):2103-2115. doi: 10.1002/mds.29576. Epub 2023 Aug 21. Mov Disord. 2023. PMID: 37605305
Patient-derived tumoroids and proteomic signatures: tools for early drug discovery.
Lê H, Deforges J, Cutolo P, Lamarque A, Hua G, Lindner V, Jain S, Balloul JM, Benkirane-Jessel N, Quéméneur E. Lê H, et al. Among authors: deforges j. Front Immunol. 2024 Apr 18;15:1379613. doi: 10.3389/fimmu.2024.1379613. eCollection 2024. Front Immunol. 2024. PMID: 38698850 Free PMC article.
In vitro vascularized immunocompetent patient-derived model to test cancer therapies.
Lê H, Deforges J, Hua G, Idoux-Gillet Y, Ponté C, Lindner V, Olland A, Falcoz PE, Zaupa C, Jain S, Quéméneur E, Benkirane-Jessel N, Balloul JM. Lê H, et al. Among authors: deforges j. iScience. 2023 Sep 29;26(10):108094. doi: 10.1016/j.isci.2023.108094. eCollection 2023 Oct 20. iScience. 2023. PMID: 37860774 Free PMC article.
Vectorized Treg-depleting αCTLA-4 elicits antigen cross-presentation and CD8+ T cell immunity to reject 'cold' tumors.
Semmrich M, Marchand JB, Fend L, Rehn M, Remy C, Holmkvist P, Silvestre N, Svensson C, Kleinpeter P, Deforges J, Junghus F, Cleary KL, Bodén M, Mårtensson L, Foloppe J, Teige I, Quéméneur E, Frendéus B. Semmrich M, et al. Among authors: deforges j. J Immunother Cancer. 2022 Jan;10(1):e003488. doi: 10.1136/jitc-2021-003488. J Immunother Cancer. 2022. PMID: 35058324 Free PMC article.
24 results