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DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis.
de Oliveira FR, Mazzola TN, de Mello MP, Francese-Santos AP, Lemos-Marini SHV, Maciel-Guerra AT, Hiort O, Werner R, Guerra-Junior G, Fabbri-Scallet H. de Oliveira FR, et al. Among authors: francese santos ap. Life (Basel). 2023 Apr 27;13(5):1093. doi: 10.3390/life13051093. Life (Basel). 2023. PMID: 37240737 Free PMC article.
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
Francese-Santos AP, Meinel JA, Piveta CSC, Andrade JGR, Barros BA, Fabbri-Scallet H, Gil-da-Silva-Lopes VL, Guerra-Junior G, Künstner A, Busch H, Hiort O, de Mello MP, Werner R, Maciel-Guerra AT. Francese-Santos AP, et al. Int J Mol Sci. 2022 Dec 28;24(1):494. doi: 10.3390/ijms24010494. Int J Mol Sci. 2022. PMID: 36613932 Free PMC article.
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.
Esquiaveto-Aun AM, de Mello MP, Guaragna MS, da Silva Lopes VLG, Francese-Santos AP, Dos Santos Cruz Piveta C, Mazolla TN, de Lemos-Marini SHV, Guerra-Junior G. Esquiaveto-Aun AM, et al. Among authors: francese santos ap. Am J Med Genet A. 2024 Jun;194(6):e63536. doi: 10.1002/ajmg.a.63536. Epub 2024 Jan 19. Am J Med Genet A. 2024. PMID: 38243380