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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. Among authors: touraine p. 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
Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.
Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R, Dewailly D, Reyss AC, Jeffery L, Bachelot A, Massin N, Fellous M, Veitia RA. Laissue P, et al. Among authors: touraine p. Eur J Endocrinol. 2006 May;154(5):739-44. doi: 10.1530/eje.1.02135. Eur J Endocrinol. 2006. PMID: 16645022
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C. Marcos S, et al. Among authors: touraine p. J Clin Endocrinol Metab. 2014 Oct;99(10):E2138-43. doi: 10.1210/jc.2014-2110. Epub 2014 Jul 31. J Clin Endocrinol Metab. 2014. PMID: 25077900
Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey.
Bouvattier C, Esterle L, Renoult-Pierre P, de la Perrière AB, Illouz F, Kerlan V, Pascal-Vigneron V, Drui D, Christin-Maitre S, Galland F, Brue T, Reznik Y, Schillo F, Pinsard D, Piguel X, Chabrier G, Decoudier B, Emy P, Tauveron I, Raffin-Sanson ML, Bertherat J, Kuhn JM, Caron P, Cartigny M, Chabre O, Dewailly D, Morel Y, Touraine P, Tardy-Guidollet V, Young J. Bouvattier C, et al. Among authors: touraine p. J Clin Endocrinol Metab. 2015 Jun;100(6):2303-13. doi: 10.1210/jc.2014-4124. Epub 2015 Mar 30. J Clin Endocrinol Metab. 2015. PMID: 25822101
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
Bernard V, Donadille B, Zenaty D, Courtillot C, Salenave S, Brac de la Perrière A, Albarel F, Fèvre A, Kerlan V, Brue T, Delemer B, Borson-Chazot F, Carel JC, Chanson P, Léger J, Touraine P, Christin-Maitre S; CMERC Center for Rare Disease. Bernard V, et al. Among authors: touraine p. Hum Reprod. 2016 Apr;31(4):782-8. doi: 10.1093/humrep/dew012. Epub 2016 Feb 13. Hum Reprod. 2016. PMID: 26874361
Gain-of-function Prolactin Receptor Variants Are Not Associated With Breast Cancer and Multiple Fibroadenoma Risk.
Chakhtoura Z, Laki F, Bernadet M, Cherifi I, Chiche A, Pigat N, Bernichtein S, Courtillot C, Boutillon F, Bièche I, Vacher S, Tanguy ML, Bissery A, Grouthier V, Camparo P, Foretz M, Do Cruzeiro M, Pierre R, Rakotozafy F, Tichet J, Tejedor I, Guidotti JE, Sigal-Zafrani B, Goffin V, Touraine P. Chakhtoura Z, et al. Among authors: touraine p. J Clin Endocrinol Metab. 2016 Nov;101(11):4449-4460. doi: 10.1210/jc.2016-2372. Epub 2016 Aug 30. J Clin Endocrinol Metab. 2016. PMID: 27575941
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S. Lerat J, et al. Among authors: touraine p. Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7. Hum Mutat. 2016. PMID: 27650058 Review.
240 results