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868 results

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Page 1
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, Askari M, Merel-Chali T, Bignon-Topalovic J, Migale R, Costanzo M, Marino R, Ramirez P, Perez Garrido N, Berensztein E, Mekkawy MK, Schimenti JC, Bertalan R, Mazen I, McElreavey K, Belgorosky A, Lovell-Badge R, Rajkovic A, Bashamboo A. Eozenou C, et al. Among authors: costanzo m. Proc Natl Acad Sci U S A. 2020 Jun 16;117(24):13680-13688. doi: 10.1073/pnas.1921676117. Epub 2020 Jun 3. Proc Natl Acad Sci U S A. 2020. PMID: 32493750 Free PMC article.
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: costanzo m. Horm Res Paediatr. 2011;75(1):70-7. doi: 10.1159/000320029. Epub 2010 Sep 22. Horm Res Paediatr. 2011. PMID: 20861607
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Ciaccio M, Costanzo M, Guercio G, De Dona V, Marino R, Ramirez PC, Galeano J, Warman DM, Berensztein E, Saraco N, Baquedano MS, Chaler E, Maceiras M, Lazzatti JM, Rivarola MA, Belgorosky A. Ciaccio M, et al. Among authors: costanzo m. Horm Res Paediatr. 2012;78(2):119-26. doi: 10.1159/000338346. Epub 2012 Aug 14. Horm Res Paediatr. 2012. PMID: 22907560 Clinical Trial.
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: costanzo 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
Five new cases of 46,XX aromatase deficiency: clinical follow-up from birth to puberty, a novel mutation, and a founder effect.
Marino R, Perez Garrido N, Costanzo M, Guercio G, Juanes M, Rocco C, Ramirez P, Warman DM, Ciaccio M, Pena G, Feyling JG, Miras M, Rivarola MA, Belgorosky A, Saraco N. Marino R, et al. Among authors: costanzo m. J Clin Endocrinol Metab. 2015 Feb;100(2):E301-7. doi: 10.1210/jc.2014-2967. Epub 2014 Nov 21. J Clin Endocrinol Metab. 2015. PMID: 25415177
Fertility Issues in Disorders of Sex Development.
Guercio G, Costanzo M, Grinspon RP, Rey RA. Guercio G, et al. Among authors: costanzo m. Endocrinol Metab Clin North Am. 2015 Dec;44(4):867-81. doi: 10.1016/j.ecl.2015.07.012. Epub 2015 Sep 3. Endocrinol Metab Clin North Am. 2015. PMID: 26568498 Review.
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: costanzo m. Sex Dev. 2017;11(5-6):225-237. doi: 10.1159/000486089. Epub 2018 Jan 24. Sex Dev. 2017. PMID: 29393262
Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone.
Baquedano MS, Guercio G, Costanzo M, Marino R, Rivarola MA, Belgorosky A. Baquedano MS, et al. Among authors: costanzo m. Vitam Horm. 2018;108:75-123. doi: 10.1016/bs.vh.2018.05.002. Epub 2018 Jun 30. Vitam Horm. 2018. PMID: 30029738 Review.
868 results