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1991 1
2004 4
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Page 1
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC. Canton APM, et al. Lancet Diabetes Endocrinol. 2023 Aug;11(8):545-554. doi: 10.1016/S2213-8587(23)00131-6. Epub 2023 Jun 26. Lancet Diabetes Endocrinol. 2023. PMID: 37385287 Free PMC article.
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.
Vallette-Kasic S, Pulichino AM, Gueydan M, Barlier A, David M, Malpuech G, Deal C, Van Vliet G, de Vroede M, Riepe F, Partsch CJ, Sippell W, Berberoglu M, Atasay B, de Zegher F, Kyllo J, Donohoue P, Dechelotte P, Fassnacht M, Noordam K, Dunkel L, Pigeon B, Weill J, Yigit S, Brauner R, Leger J, Heinrich JJ, Enjalbert A, Brue T, Drouin J. Vallette-Kasic S, et al. Endocr Res. 2004 Nov;30(4):943-4. doi: 10.1081/erc-200044166. Endocr Res. 2004. PMID: 15666849 No abstract available.
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J. Vallette-Kasic S, et al. J Clin Endocrinol Metab. 2005 Mar;90(3):1323-31. doi: 10.1210/jc.2004-1300. Epub 2004 Dec 21. J Clin Endocrinol Metab. 2005. PMID: 15613420
11 results