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Page 1
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Hum Mutat. 2018 Jan;39(1):5-22. doi: 10.1002/humu.23351. Epub 2017 Nov 6.
Hum Mutat. 2018.
PMID: 29035424
Review.
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Fernández CS, Taboas M, Bruque CD, Benavides-Mori B, Belli S, Stivel M, Oneto A, Pasqualini T, Delea M, Espeche LD, Kolomenski JE, Alba L, Buzzalino N, Dain L.
Fernández CS, et al.
Clin Endocrinol (Oxf). 2020 Jul;93(1):19-27. doi: 10.1111/cen.14190. Epub 2020 May 3.
Clin Endocrinol (Oxf). 2020.
PMID: 32289882
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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Delea M, Massara LS, Espeche LD, Bidondo MP, Barbero P, Oliveri J, Brun P, Fabro M, Galain M, Fernández CS, Taboas M, Bruque CD, Kolomenski JE, Izquierdo A, Berenstein A, Cosentino V, Martinoli C, Vilas M, Rittler M, Mendez R, Furforo L, Liascovich R, Groisman B, Rozental S, Dain L, On Behalf Of The Pid Acm-Cc Group.
Delea M, et al. Among authors: fernandez cs.
Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172.
Genes (Basel). 2022.
PMID: 35885957
Free PMC article.
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Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Bruque CD, Delea M, Fernández CS, Orza JV, Taboas M, Buzzalino N, Espeche LD, Solari A, Luccerini V, Alba L, Nadra AD, Dain L.
Bruque CD, et al. Among authors: fernandez cs.
Sci Rep. 2016 Dec 14;6:39082. doi: 10.1038/srep39082.
Sci Rep. 2016.
PMID: 27966633
Free PMC article.
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Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
Espeche LD, Chiauzzi V, Ferder I, Arrar M, Solari AP, Bruque CD, Delea M, Belli S, Fernández CS, Buzzalino ND, Charreau EH, Dain LB.
Espeche LD, et al.
Genes (Basel). 2017 Aug 16;8(8):194. doi: 10.3390/genes8080194.
Genes (Basel). 2017.
PMID: 28812997
Free PMC article.
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Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Fernández CS, Bruque CD, Taboas M, Buzzalino ND, Espeche LD, Pasqualini T, Charreau EH, Alba LG, Ghiringhelli PD, Dain L.
Fernández CS, et al.
Endocrine. 2015 Sep;50(1):72-8. doi: 10.1007/s12020-015-0680-0. Epub 2015 Jul 17.
Endocrine. 2015.
PMID: 26184415
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