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Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
Warman DM, Costanzo M, Marino R, Berensztein E, Galeano J, Ramirez PC, Saraco N, Baquedano MS, Ciaccio M, Guercio G, Chaler E, Maceiras M, Lazzatti JM, Bailez M, Rivarola MA, Belgorosky A. Warman DM, et al. Among authors: bailez m. Horm Res Paediatr. 2011;75(1):70-7. doi: 10.1159/000320029. Epub 2010 Sep 22. Horm Res Paediatr. 2011. PMID: 20861607
Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.
Baquedano MS, Guercio G, Marino R, Berensztein E, Costanzo M, Bailez M, Vaiani E, Maceiras M, Ramirez P, Chaler E, Rivarola MA, Belgorosky A. Baquedano MS, et al. Among authors: bailez m. J Clin Endocrinol Metab. 2013 Jan;98(1):E153-61. doi: 10.1210/jc.2012-2865. Epub 2012 Nov 21. J Clin Endocrinol Metab. 2013. PMID: 23175692
Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty.
Aliberti P, Perez Garrido N, Marino R, Ramirez P, Solari AJ, Sciurano R, Costanzo M, Guercio G, Warman DM, Bailez M, Baquedano MS, Rivarola MA, Belgorosky A, Berensztein E. Aliberti P, et al. Among authors: bailez m. Sex Dev. 2017;11(5-6):225-237. doi: 10.1159/000486089. Epub 2018 Jan 24. Sex Dev. 2017. PMID: 29393262
New Simulator for Neuroendoscopy: A Realistic and Attainable Model.
Argañaraz R, Sáenz A, Liñares JM, Martinez P, Bailez M, Mantese B. Argañaraz R, et al. Among authors: bailez m. World Neurosurg. 2020 Feb;134:33-38. doi: 10.1016/j.wneu.2019.10.092. Epub 2019 Oct 23. World Neurosurg. 2020. PMID: 31655233
41 results