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Testicular differentiation in 46,XX DSD: an overview of genetic causes.
Ferrari MTM, Silva ESDN, Nishi MY, Batista RL, Mendonca BB, Domenice S. Ferrari MTM, et al. Among authors: nishi my. Front Endocrinol (Lausanne). 2024 Apr 24;15:1385901. doi: 10.3389/fendo.2024.1385901. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38721146 Free PMC article. Review.
Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.
Martins JMES, Braga BL, Sampaio KNF, de Souza Garcia T, Van de Sande Lee J, Cechinel E, Simoni G, Nascimento ML, da Silva PCA, Fragoso MCV, Bachega TAAS, Nishi MY, Mendonca BB. Martins JMES, et al. Among authors: nishi my. Arch Endocrinol Metab. 2024 Feb 29;68:e220395. doi: 10.20945/2359-4292-2022-0395. Arch Endocrinol Metab. 2024. PMID: 38427811 Free PMC article.
PROP1-Related Combined Pituitary Hormone Deficiency.
Carvalho LR, Nishi MY, Correa FA, Moreira Marques J, Arnhold IJP, Mendonca BB. Carvalho LR, et al. Among authors: nishi my. 2000 Dec 7 [updated 2022 Feb 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Dec 7 [updated 2022 Feb 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301521 Free Books & Documents. Review.
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
Gomes NL, Batista RL, Nishi MY, Lerário AM, Silva TE, de Moraes Narcizo A, Benedetti AFF, de Assis Funari MF, Faria Junior JA, Moraes DR, Quintão LML, Montenegro LR, Ferrari MTM, Jorge AA, Arnhold IJP, Costa EMF, Domenice S, Mendonca BB. Gomes NL, et al. Among authors: nishi my. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. doi: 10.1210/clinem/dgac064. J Clin Endocrinol Metab. 2022. PMID: 35134971
86 results