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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: rivarola ma. 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
The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
Pepe CM, Saraco NI, Baquedano MS, Guercio G, Vaiani E, Marino R, Pandey AV, Flück CE, Rivarola MA, Belgorosky A. Pepe CM, et al. Among authors: rivarola ma. Clin Endocrinol (Oxf). 2007 Nov;67(5):698-705. doi: 10.1111/j.1365-2265.2007.02948.x. Epub 2007 Jul 2. Clin Endocrinol (Oxf). 2007. PMID: 17608756
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: rivarola ma. Horm Res Paediatr. 2011;75(1):70-7. doi: 10.1159/000320029. Epub 2010 Sep 22. Horm Res Paediatr. 2011. PMID: 20861607
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A. Marino R, et al. Among authors: rivarola ma. Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x. Clin Endocrinol (Oxf). 2011. PMID: 21609351
189 results