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NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Jordan P, Verebi C, Perol S, Grotto S, Fouveaut C, Christin-Maitre S, de la Perrière AB, Grouthier V, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, El Khattabi L, Bienvenu T. Jordan P, et al. J Assist Reprod Genet. 2024 Jan;41(1):135-146. doi: 10.1007/s10815-023-02981-y. Epub 2023 Nov 3. J Assist Reprod Genet. 2024. PMID: 37921973
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Quilichini J, Perol S, Cuisset L, Grotto S, Fouveaut C, Barbot JC, Verebi C, Jordan P, Héron D, Molina-Gomes D, Pipiras E, Grynberg M, Catteau-Jonard S, Touraine P, Christin-Maître S, Plu-Bureau G, El Khattabi L, Bienvenu T. Quilichini J, et al. Among authors: jordan p. Am J Med Genet A. 2024 Apr;194(4):e63479. doi: 10.1002/ajmg.a.63479. Epub 2023 Nov 21. Am J Med Genet A. 2024. PMID: 37987117
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P, Verebi C, Hervé B, Perol S, Chakhtoura Z, Courtillot C, Bachelot A, Karila D, Renard C, Grouthier V, de la Croix SM, Bernard V, Fouveaut C, de la Perrière AB, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, Christin-Maitre S, Bienvenu T. Jordan P, et al. Clin Genet. 2024 Apr 1. doi: 10.1111/cge.14526. Online ahead of print. Clin Genet. 2024. PMID: 38558253
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Jordan P, Dorval G, Arrondel C, Morinière V, Tournant C, Audrezet MP, Michel-Calemard L, Putoux A, Lesca G, Labalme A, Whalen S, Loeuillet L, Martinovic J, Attie-Bitach T, Bessières B, Schaefer E, Scheidecker S, Lambert L, Beneteau C, Patat O, Boute-Benejean O, Molin A, Guimiot F, Fontanarosa N, Nizon M, Lefebvre M, Jeanpierre C, Saunier S, Heidet L. Jordan P, et al. Hum Mutat. 2022 Mar;43(3):347-361. doi: 10.1002/humu.24324. Epub 2022 Jan 10. Hum Mutat. 2022. PMID: 35005812
A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome.
Bekhouche B, Tourville A, Ravichandran Y, Tacine R, Abrami L, Dussiot M, Khau-Dancasius A, Boccara O, Khirat M, Mangeney M, Dingli F, Loew D, Boëda B, Jordan P, Molina TJ, Bellon N, Fraitag S, Hadj-Rabia S, Blanche S, Puel A, Etienne-Manneville S, van der Goot FG, Cherfils J, Hermine O, Casanova JL, Bodemer C, Smahi A, Delon J. Bekhouche B, et al. Among authors: jordan p. J Allergy Clin Immunol. 2020 Nov;146(5):1201-1204.e8. doi: 10.1016/j.jaci.2020.03.020. Epub 2020 Apr 10. J Allergy Clin Immunol. 2020. PMID: 32283203 No abstract available.
Listening to patients, for the patients: The COVAD Study-Vision, organizational structure, and challenges.
Joshi M, Darooka N, Saha S, Dyball S, Sen P, Yaadav P, Javaid M, Kadam E, Shinjo SK, Dey D, Cavagna L, Makol A, Gutiérrez CET, Caballero Uribe CV, Kuwana M, Burmester GR, Ziade N, Wincup C, Andreoli L, Parodis I, Tan AL, Guillemin F, Knitza J, Wang G, Dalbeth N, Velikova T, Gracia-Ramos AE, Nikiphorou E, Day J, Chinoy H, Aggarwal R, Agarwal V, Gupta L; COVAD study group. Joshi M, et al. Int J Rheum Dis. 2024 May;27(5):e15161. doi: 10.1111/1756-185X.15161. Int J Rheum Dis. 2024. PMID: 38720408
1,156 results