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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: perez garrido n. Horm Res Paediatr. 2015;84(4):275-82. doi: 10.1159/000437142. Epub 2015 Aug 5. Horm Res Paediatr. 2015. PMID: 26279340
Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient.
Costanzo M, Garcia-Feyling J, Saraco N, Marino R, Pérez Garrido N, Touzon MS, Viterbo G, Lazzati JM, Patiño HC, Mattone C, Maceiras M, Belgorosky A, Guercio G. Costanzo M, et al. Among authors: perez garrido n. Horm Res Paediatr. 2018;90(4):275-282. doi: 10.1159/000492128. Epub 2018 Aug 31. Horm Res Paediatr. 2018. PMID: 30173221
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: perez garrido n. Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x. Clin Endocrinol (Oxf). 2011. PMID: 21609351
A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.
Baquedano MS, Ciaccio M, Marino R, Perez Garrido N, Ramirez P, Maceiras M, Turjanski A, Defelipe LA, Rivarola MA, Belgorosky A. Baquedano MS, et al. Among authors: perez garrido n. J Clin Endocrinol Metab. 2015 Jan;100(1):E191-6. doi: 10.1210/jc.2014-2676. J Clin Endocrinol Metab. 2015. PMID: 25322271
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: perez garrido n. 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
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome.
Marino R, Moresco A, Perez Garrido N, Ramirez P, Belgorosky A. Marino R, et al. Among authors: perez garrido n. Front Endocrinol (Lausanne). 2022 Feb 25;13:803226. doi: 10.3389/fendo.2022.803226. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35282436 Free PMC article. Review.
Molecular analysis of the CYP21A2 gene in dried blood spot samples.
Marino S, Perez Garrido N, Ramírez P, Pujana M, Dratler G, Belgorosky A, Marino R. Marino S, et al. Among authors: perez garrido n. Medicina (B Aires). 2020;80(3):197-202. Medicina (B Aires). 2020. PMID: 32442933 Free article. English.
20 results