Buzzalino ND - Search Results

1

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.

2

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. Among authors: buzzalino nd. Genes (Basel). 2017 Aug 16;8(8):194. doi: 10.3390/genes8080194. Genes (Basel). 2017. PMID: 28812997 Free PMC article.

3

Genetics and genomic medicine in Argentina.

Cotignola J, Rozental S, Buzzalino N, Dain L. Cotignola J, et al. Mol Genet Genomic Med. 2019 Apr;7(4):e00571. doi: 10.1002/mgg3.571. Epub 2019 Feb 5. Mol Genet Genomic Med. 2019. PMID: 30724040 Free PMC article.

4

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

5

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Simonetti L, Bruque CD, Fernández CS, Benavides-Mori B, Delea M, Kolomenski JE, Espeche LD, Buzzalino ND, Nadra AD, Dain L. Simonetti L, et al. Among authors: buzzalino nd. Hum Mutat. 2018 Jan;39(1):5-22. doi: 10.1002/humu.23351. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29035424 Review.

6

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. Sci Rep. 2016 Dec 14;6:39082. doi: 10.1038/srep39082. Sci Rep. 2016. PMID: 27966633 Free PMC article.

7

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.

Taboas M, Gómez Acuña L, Scaia MF, Bruque CD, Buzzalino N, Stivel M, Ceballos NR, Dain L. Taboas M, et al. PLoS One. 2014 Mar 25;9(3):e92181. doi: 10.1371/journal.pone.0092181. eCollection 2014. PLoS One. 2014. PMID: 24667412 Free PMC article.

8

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

9

Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.

Taboas M, Fernández C, Belli S, Buzzalino N, Alba L, Dain L. Taboas M, et al. Case Rep Genet. 2013;2013:143781. doi: 10.1155/2013/143781. Epub 2013 Jul 7. Case Rep Genet. 2013. PMID: 23936690 Free PMC article.

10

[Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families].

Ormazábal M, Solari A, Espeche L, Castro T, Buzzalino N; Collaborators. Ormazábal M, et al. Arch Argent Pediatr. 2019 Jun 1;117(3):e257-e262. doi: 10.5546/aap.2019.e257. Arch Argent Pediatr. 2019. PMID: 31063313 Free article. Spanish.

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