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786 results
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Gonadoblastoma in patients with Ullrich-Turner syndrome.
Zelaya G, López Marti JM, Marino R, Garcia de Dávila MT, Gallego MS. Zelaya G, et al. Among authors: marino r. Pediatr Dev Pathol. 2015 Mar-Apr;18(2):117-21. doi: 10.2350/14-08-1539-OA.1. Epub 2014 Dec 23. Pediatr Dev Pathol. 2015. PMID: 25535833
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. Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x. Clin Endocrinol (Oxf). 2011. PMID: 21609351
Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency.
Juanes M, Marino R, Ciaccio M, Di Palma I, Ramirez P, Warman DM, De Dona V, Chaler E, Maceiras M, Rivarola MA, Belgorosky A. Juanes M, et al. Among authors: marino r. Clin Endocrinol (Oxf). 2014 Apr;80(4):618-20. doi: 10.1111/cen.12267. Epub 2013 Jul 11. Clin Endocrinol (Oxf). 2014. PMID: 23789946 No abstract available.
An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.
Saraco N, Nesi-Franca S, Sainz R, Marino R, Marques-Pereira R, La Pastina J, Perez Garrido N, Sandrini R, Rivarola MA, de Lacerda L, Belgorosky A. Saraco N, et al. Among authors: marino r. Horm Res Paediatr. 2015;84(4):275-82. doi: 10.1159/000437142. Epub 2015 Aug 5. Horm Res Paediatr. 2015. PMID: 26279340
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: marino r. 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: marino r. Horm Res Paediatr. 2011;75(1):70-7. doi: 10.1159/000320029. Epub 2010 Sep 22. Horm Res Paediatr. 2011. PMID: 20861607
Molecular analysis of the 21-hydroxylase gene.
Belgorosky A, Marino R, Rivarola M. Belgorosky A, et al. Among authors: marino r. Clin Endocrinol (Oxf). 2003 Feb;58(2):247. doi: 10.1046/j.1365-2265.2003.17092.x. Clin Endocrinol (Oxf). 2003. PMID: 12580943 No abstract available.
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