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A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
Yancoski J, Rocco C, Bernasconi A, Oleastro M, Bezrodnik L, Vrátnica C, Haerynck F, Rosenzweig SD. Yancoski J, et al. Among authors: rocco c. Infect Genet Evol. 2009 Jul;9(4):574-80. doi: 10.1016/j.meegid.2009.02.010. Epub 2009 Mar 9. Infect Genet Evol. 2009. PMID: 19460324 Free PMC article.
A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.
Simesen de Bielke MG, Yancoski J, Rocco C, Pérez LE, Cantisano C, Pérez N, Oleastro M, Danielian S. Simesen de Bielke MG, et al. Among authors: rocco c. J Clin Immunol. 2012 Dec;32(6):1197-203. doi: 10.1007/s10875-012-9731-y. Epub 2012 Jul 3. J Clin Immunol. 2012. PMID: 22752343
Longitudinal analysis of HIV-1 BF1 recombinant strains in vertically infected children from Argentina reveals a decrease in CRF12_BF pol gene mosaic patterns and high diversity of BF unique recombinant forms.
Aulicino PC, Bello G, Guimaraes ML, Ruchansky D, Rocco C, Mangano A, Morgado MG, Sen L. Aulicino PC, et al. Among authors: rocco c. Infect Genet Evol. 2011 Mar;11(2):349-57. doi: 10.1016/j.meegid.2010.11.008. Epub 2010 Dec 3. Infect Genet Evol. 2011. PMID: 21130901 Free article.
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: rocco c. 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
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: rocco c. Clin Endocrinol (Oxf). 2011 Oct;75(4):427-35. doi: 10.1111/j.1365-2265.2011.04123.x. Clin Endocrinol (Oxf). 2011. PMID: 21609351
545 results