Dain L - Search Results

1

Castro IH, Pignataro MF, Sewell KE, Espeche LD, Herrera MG, Noguera ME, Dain L, Nadra AD, Aran M, Smal C, Gallo M, Santos J. Castro IH, et al. Among authors: dain l. Subcell Biochem. 2019;93:393-438. doi: 10.1007/978-3-030-28151-9_13. Subcell Biochem. 2019. PMID: 31939159 Review.

2

Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.

Espeche LD, Sewell KE, Castro IH, Capece L, Pignataro MF, Dain L, Santos J. Espeche LD, et al. Among authors: dain l. Arch Biochem Biophys. 2022 Jan 15;715:109086. doi: 10.1016/j.abb.2021.109086. Epub 2021 Nov 19. Arch Biochem Biophys. 2022. PMID: 34801473

3

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

4

An update on genetic variants of the NKX2-5.

Kolomenski JE, Delea M, Simonetti L, Fabbro MC, Espeche LD, Taboas M, Nadra AD, Bruque CD, Dain L. Kolomenski JE, et al. Among authors: dain l. Hum Mutat. 2020 Jul;41(7):1187-1208. doi: 10.1002/humu.24030. Epub 2020 May 22. Hum Mutat. 2020. PMID: 32369864

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: dain l. 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 analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.

Minutolo C, Nadra AD, Fernández C, Taboas M, Buzzalino N, Casali B, Belli S, Charreau EH, Alba L, Dain L. Minutolo C, et al. Among authors: dain l. PLoS One. 2011 Jan 11;6(1):e15899. doi: 10.1371/journal.pone.0015899. PLoS One. 2011. PMID: 21264314 Free PMC article.

7

Expression and characterisation of Fmr1 splice variants during folliculogenesis in the rat.

Ferder IC, Espeche LD, Bruque CD, Parborell F, Tesone M, Dain L. Ferder IC, et al. Among authors: dain l. Reprod Fertil Dev. 2022 Oct;34(16):1034-1042. doi: 10.1071/RD22059. Reprod Fertil Dev. 2022. PMID: 36116785

8

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.

9

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. Among authors: dain l. Clin Endocrinol (Oxf). 2020 Jul;93(1):19-27. doi: 10.1111/cen.14190. Epub 2020 May 3. Clin Endocrinol (Oxf). 2020. PMID: 32289882

10

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.

Espeche LD, Solari AP, Mori MÁ, Arenas RM, Palomares M, Pérez M, Martínez C, Lotersztein V, Segovia M, Armando R, Dain LB, Nevado J, Lapunzina P, Rozental S. Espeche LD, et al. Among authors: dain lb. Mol Biol Rep. 2020 Sep;47(9):6863-6878. doi: 10.1007/s11033-020-05743-6. Epub 2020 Sep 13. Mol Biol Rep. 2020. PMID: 32920771

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