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Page 1
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A, Ogur C, Da Costa S, Braham I, Billaud-Rist L, Findikli N, Beneteau C, Reynaud R, Mahmoud K, Legrand S, Marchand M, Cedrin-Durnerin I, Cantalloube A, Peigne M, Bretault M, Dagher-Hayeck B, Perol S, Droumaguet C, Cavkaytar S, Nicolas-Bonne C, Elloumi H, Khrouf M, Rougier-LeMasle C, Fradin M, Le Boette E, Luigi P, Guerrot AM, Ginglinger E, Zampa A, Fauconnier A, Auger N, Paris F, Brischoux-Boucher E, Cabrol C, Brun A, Guyon L, Berard M, Riviere A, Gruchy N, Odent S, Gilbert-Dussardier B, Isidor B, Piard J, Lambert L, Hamamah S, Guedj AM, Brac de la Perriere A, Fernandez H, Raffin-Sanson ML, Polak M, Letur H, Epelboin S, Plu-Bureau G, Wołczyński S, Hieronimus S, Aittomaki K, Catteau-Jonard S, Misrahi M. Heddar A, et al. Among authors: brac de la perriere a. EBioMedicine. 2022 Oct;84:104246. doi: 10.1016/j.ebiom.2022.104246. Epub 2022 Sep 10. EBioMedicine. 2022. PMID: 36099812 Free PMC article.
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Christin-Maitre S, Givony M, Albarel F, Bachelot A, Bidet M, Blanc JV, Bouvattier C, Brac de la Perrière A, Catteau-Jonard S, Chevalier N, Carel JC, Coutant R, Donadille B, Duranteau L, El-Khattabi L, Hugon-Rodin J, Houang M, Grynberg M, Kerlan V, Leger J, Misrahi M, Pienkowski C, Plu-Bureau G, Polak M, Reynaud R, Siffroi JP, Sonigo C, Touraine P, Zenaty D. Christin-Maitre S, et al. Among authors: brac de la perriere a. Ann Endocrinol (Paris). 2021 Dec;82(6):555-571. doi: 10.1016/j.ando.2021.09.001. Epub 2021 Sep 8. Ann Endocrinol (Paris). 2021. PMID: 34508691
Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype.
Karila D, Donadille B, Léger J, Bouvattier C, Bachelot A, Kerlan V, Catteau-Jonard S, Salenave S, Albarel F, Briet C, Coutant R, Brac De La Perriere A, Valent A, Siffroi JP, Christin-Maitre S. Karila D, et al. Among authors: brac de la perriere a. Eur J Endocrinol. 2022 Nov 24;187(6):873-881. doi: 10.1530/EJE-22-0593. Print 2022 Dec 1. Eur J Endocrinol. 2022. PMID: 36305565
Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Bonnet E, Winter M, Mallet D, Plotton I, Bouvattier C, Cartigny M, Martinerie L, Polak M, Bachelot A, Huet F, Baron S, Houang M, Soskin S, Lienhardt A, Bertherat J, Amouroux C, Bouty A, Duranteau L, Besson R, El Ghoneimi A, Samara-Boustani D, Becmeur F, Kalfa N, Paris F, Medjkane F, Brac de la Perrière A, Bretones P, Lejeune H, Nicolino M, Mouriquand P, Gorduza DB, Gay CL. Bonnet E, et al. Among authors: brac de la perriere a. Endocr Connect. 2023 Feb 14;12(3):e220227. doi: 10.1530/EC-22-0227. Print 2023 Mar 1. Endocr Connect. 2023. PMID: 36606580 Free PMC article.
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: brac de la perriere a. Hum Reprod. 2016 Apr;31(4):782-8. doi: 10.1093/humrep/dew012. Epub 2016 Feb 13. Hum Reprod. 2016. PMID: 26874361
Gonadal function in adult male patients with congenital adrenal hyperplasia.
Engels M, Gehrmann K, Falhammar H, Webb EA, Nordenström A, Sweep FC, Span PN, van Herwaarden AE, Rohayem J, Richter-Unruh A, Bouvattier C, Köhler B, Kortmann BB, Arlt W, Roeleveld N, Reisch N, Stikkelbroeck NMML, Claahsen-van der Grinten HL; dsd-LIFE group. Engels M, et al. Eur J Endocrinol. 2018 Mar;178(3):285-294. doi: 10.1530/EJE-17-0862. Epub 2018 Jan 16. Eur J Endocrinol. 2018. PMID: 29339528 Free article.
Triple-A syndrome: a wide spectrum of adrenal dysfunction.
Roucher-Boulez F, Brac de la Perriere A, Jacquez A, Chau D, Guignat L, Vial C, Morel Y, Nicolino M, Raverot G, Pugeat M. Roucher-Boulez F, et al. Among authors: brac de la perriere a. Eur J Endocrinol. 2018 Mar;178(3):199-207. doi: 10.1530/EJE-17-0642. Epub 2017 Dec 13. Eur J Endocrinol. 2018. PMID: 29237697
Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.
Hacquart T, Ltaief-Boudrigua A, Jeannerod C, Hannoun S, Raverot G, Pugeat M, Brac de la Perriere A, Lapras V, Nugues F, Dode C, Cotton F. Hacquart T, et al. Among authors: brac de la perriere a. Ann Endocrinol (Paris). 2017 Oct;78(5):455-461. doi: 10.1016/j.ando.2016.12.003. Epub 2017 Aug 12. Ann Endocrinol (Paris). 2017. PMID: 28807454
Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development.
Nordenström A, Röhle R, Thyen U, Bouvattier C, Slowikowska-Hilczer J, Reisch N, Claahsen van der Grinten H, Brac de la Perriere A, Cohen-Kettenis PT, Köhler B; dsd-LIFE group. Nordenström A, et al. Among authors: brac de la perriere a. Clin Endocrinol (Oxf). 2018 Mar;88(3):397-408. doi: 10.1111/cen.13518. Epub 2017 Dec 17. Clin Endocrinol (Oxf). 2018. PMID: 29149458
45 results