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NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Chachlaki K, Messina A, Delli V, Leysen V, Maurnyi C, Huber C, Ternier G, Skrapits K, Papadakis G, Shruti S, Kapanidou M, Cheng X, Acierno J, Rademaker J, Rasika S, Quinton R, Niedziela M, L'Allemand D, Pignatelli D, Dirlewander M, Lang-Muritano M, Kempf P, Catteau-Jonard S, Niederländer NJ, Ciofi P, Tena-Sempere M, Garthwaite J, Storme L, Avan P, Hrabovszky E, Carleton A, Santoni F, Giacobini P, Pitteloud N, Prevot V. Chachlaki K, et al. Sci Transl Med. 2022 Oct 5;14(665):eabh2369. doi: 10.1126/scitranslmed.abh2369. Epub 2022 Oct 5. Sci Transl Med. 2022. PMID: 36197968 Free PMC article.
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. 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
Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process.
Mimouni NEH, Paiva I, Barbotin AL, Timzoura FE, Plassard D, Le Gras S, Ternier G, Pigny P, Catteau-Jonard S, Simon V, Prevot V, Boutillier AL, Giacobini P. Mimouni NEH, et al. Cell Metab. 2021 Mar 2;33(3):513-530.e8. doi: 10.1016/j.cmet.2021.01.004. Epub 2021 Feb 3. Cell Metab. 2021. PMID: 33539777 Free PMC article.
98 results