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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
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
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency.
Chakhtoura Z, Bachelot A, Samara-Boustani D, Ruiz JC, Donadille B, Dulon J, Christin-Maître S, Bouvattier C, Raux-Demay MC, Bouchard P, Carel JC, Leger J, Kuttenn F, Polak M, Touraine P; Centre des Maladies Endocriniennes Rares de la Croissance and Association Surrénales. Chakhtoura Z, et al. Among authors: touraine p. Eur J Endocrinol. 2008 Jun;158(6):879-87. doi: 10.1530/EJE-07-0887. Epub 2008 Apr 7. Eur J Endocrinol. 2008. PMID: 18390993
Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E. Beysen D, et al. Among authors: touraine p. Hum Mutat. 2008 Nov;29(11):E205-19. doi: 10.1002/humu.20819. Hum Mutat. 2008. PMID: 18642388
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F. Bidet M, et al. Among authors: touraine p. J Clin Endocrinol Metab. 2009 May;94(5):1570-8. doi: 10.1210/jc.2008-1582. Epub 2009 Feb 10. J Clin Endocrinol Metab. 2009. PMID: 19208730
Cardiovascular findings and management in Turner syndrome: insights from a French cohort.
Donadille B, Rousseau A, Zenaty D, Cabrol S, Courtillot C, Samara-Boustani D, Salenave S, Monnier-Cholley L, Meuleman C, Jondeau G, Iserin L, Duranteau L, Cabanes L, Bourcigaux N, Bonnet D, Bouchard P, Chanson P, Polak M, Touraine P, Lebouc Y, Carel JC, Léger J, Christin-Maitre S. Donadille B, et al. Among authors: touraine p. Eur J Endocrinol. 2012 Oct;167(4):517-22. doi: 10.1530/EJE-12-0434. Epub 2012 Jul 16. Eur J Endocrinol. 2012. PMID: 22802424 Free article.
240 results