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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 Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Delea M, Espeche LD, Bruque CD, Bidondo MP, Massara LS, Oliveri J, Brun P, Cosentino VR, Martinoli C, Tolaba N, Picon C, Ponce Zaldua ME, Ávila S, Gutnisky V, Perez M, Furforo L, Buzzalino ND, Liascovich R, Groisman B, Rittler M, Rozental S, Barbero P, Dain L.
Delea M, et al. Among authors: buzzalino nd.
Genes (Basel). 2018 Sep 11;9(9):454. doi: 10.3390/genes9090454.
Genes (Basel). 2018.
PMID: 30208644
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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Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients.
Dain LB, Buzzalino ND, Oneto A, Belli S, Stivel M, Pasqualini T, Minutolo C, Charreau EH, Alba LG.
Dain LB, et al. Among authors: buzzalino nd.
Clin Endocrinol (Oxf). 2002 Feb;56(2):239-45. doi: 10.1046/j.0300-0664.2001.01419.x.
Clin Endocrinol (Oxf). 2002.
PMID: 11874416
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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. Among authors: buzzalino nd.
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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