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246 results

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Page 1
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Tucker EJ, Sharp MF, Lokchine A, Bell KM, Palmer CS, Kline BL, Robevska G, van den Bergen J, Dulon J, Stojanovski D, Ayers KL, Touraine P, Crismani W, Jaillard S, Sinclair AH. Tucker EJ, et al. Among authors: touraine p. Clin Genet. 2024 Sep;106(3):321-335. doi: 10.1111/cge.14543. Epub 2024 May 23. Clin Genet. 2024. PMID: 38779778
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
Bakhshalizadeh S, Bird AD, Sreenivasan R, Bell KM, Robevska G, van den Bergen J, Asghari-Jafarabadi M, Kueh AJ, Touraine P, Lokchine A, Jaillard S, Ayers KL, Wilhelm D, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: touraine p. Genes (Basel). 2024 Mar 4;15(3):333. doi: 10.3390/genes15030333. Genes (Basel). 2024. PMID: 38540391 Free PMC article.
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: touraine 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
Premature ovarian insufficiency.
Touraine P, Chabbert-Buffet N, Plu-Bureau G, Duranteau L, Sinclair AH, Tucker EJ. Touraine P, et al. Nat Rev Dis Primers. 2024 Sep 12;10(1):63. doi: 10.1038/s41572-024-00547-5. Nat Rev Dis Primers. 2024. PMID: 39266563 Review.
Cardiometabolic Aspects of Congenital Adrenal Hyperplasia.
Krysiak R, Claahsen-van der Grinten HL, Reisch N, Touraine P, Falhammar H. Krysiak R, et al. Among authors: touraine p. Endocr Rev. 2024 Sep 6:bnae026. doi: 10.1210/endrev/bnae026. Online ahead of print. Endocr Rev. 2024. PMID: 39240753
Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?
Jordan P, Verebi C, Hervé B, Perol S, Bernard V, Karila D, Jali E, Brac de la Perrière A, Grouthier V, Jonard-Catteau S, Touraine P, Fouveaut C, Plu-Bureau G, Michel Dupont J, Bachelot A, Christin-Maitre S, Bienvenu T. Jordan P, et al. Among authors: touraine p. Gene. 2024 Nov 15;927:148734. doi: 10.1016/j.gene.2024.148734. Epub 2024 Jun 26. Gene. 2024. PMID: 38942181 Free article.
Comparison of modified-release hydrocortisone capsules versus prednisolone in the treatment of congenital adrenal hyperplasia.
Rees DA, Merke DP, Arlt W, Brac De La Perriere A, Hirschberg AL, Juul A, Newell-Price J, Prete A, Reisch N, Stikkelbroeck NM, Touraine PA, Lewis A, Porter J, Coope H, Ross RJ. Rees DA, et al. Among authors: touraine pa. Endocr Connect. 2024 Jul 18;13(8):e240150. doi: 10.1530/EC-24-0150. Print 2024 Aug 1. Endocr Connect. 2024. PMID: 38934378 Free PMC article.
Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.
Auchus RJ, Hamidi O, Pivonello R, Bancos I, Russo G, Witchel SF, Isidori AM, Rodien P, Srirangalingam U, Kiefer FW, Falhammar H, Merke DP, Reisch N, Sarafoglou K, Cutler GB Jr, Sturgeon J, Roberts E, Lin VH, Chan JL, Farber RH; CAHtalyst Adult Trial Investigators. Auchus RJ, et al. N Engl J Med. 2024 Aug 8;391(6):504-514. doi: 10.1056/NEJMoa2404656. Epub 2024 Jun 1. N Engl J Med. 2024. PMID: 38828955 Free PMC article. Clinical Trial.
Lessons from prospective longitudinal follow-up of a French APECED cohort.
Humbert L, Proust-Lemoine E, Dubucquoi S, Kemp EH, Saugier-Veber P, Fabien N, Raymond-Top I, Cardot-Bauters C, Carel JC, Cartigny M, Chabre O, Chanson P, Delemer B, Do Cao C, Guignat L, Kahn JE, Kerlan V, Lefebvre H, Linglart A, Mallone R, Reynaud R, Sendid B, Souchon PF, Touraine P, Wémeau JL, Vantyghem MC. Humbert L, et al. Among authors: touraine p. J Clin Endocrinol Metab. 2024 Apr 12:dgae211. doi: 10.1210/clinem/dgae211. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38605470 Free article.
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. Among authors: touraine p. Clin Genet. 2024 Jul;106(1):102-108. doi: 10.1111/cge.14526. Epub 2024 Apr 1. Clin Genet. 2024. PMID: 38558253
246 results