Publications by authors named "Lucia D Espeche"

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Expression and characterisation of splice variants during folliculogenesis in the rat.
Ianina C Ferder, Lucía D Espeche, Carlos D Bruque, Fernanda Parborell, Marta Tesone

Reprod Fertil Dev· October 2022

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Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Marisol Delea, Lucia S Massara, Lucia D Espeche, María Paz Bidondo, Pablo Barbero

Genes (Basel)· June 2022

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Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay.
Lucía D Espeche, Karl Ellioth Sewell, Ignacio H Castro, Luciana Capece, María Florencia Pignataro

Arch Biochem Biophys· January 2022

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Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Lucía Daniela Espeche, Andrea Paula Solari, María Ángeles Mori, Rubén Martín Arenas, María Palomares

Mol Biol Rep· September 2020

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Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Cecilia S Fernández, Melisa Taboas, Carlos D Bruque, Belén Benavides-Mori, Susana Belli, Lucía D Espeche

Clin Endocrinol (Oxf)· July 2020

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An update on genetic variants of the NKX2-5.
Jorge E Kolomenski, Marisol Delea, Leandro Simonetti, Mónica C Fabbro, Lucía D Espeche

Hum Mutat· July 2020

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Frataxin Structure and Function.
Ignacio Hugo Castro, María Florencia Pignataro, Karl Ellioth Sewell, Lucía Daniela Espeche, María Georgina Herrera

Subcell Biochem· February 2020

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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Marisol Delea, Lucía D Espeche, Carlos D Bruque, María Paz Bidondo, Lucía S Massara

Genes (Basel)· September 2018

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CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.
Leandro Simonetti, Carlos D Bruque, Cecilia S Fernández, Belén Benavides-Mori, Marisol Delea, Lucía D Espeche

Hum Mutat· January 2018

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Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
Lucía Daniela Espeche, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari

Genes (Basel)· August 2017

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Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Carlos D Bruque, Marisol Delea, Cecilia S Fernández, Juan V Orza, Melisa Taboas, Lucía D Espeche

Sci Rep· December 2016

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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.
Cecilia S Fernández, Carlos D Bruque, Melisa Taboas, Noemí D Buzzalino, Lucia D Espeche

Endocrine· September 2015

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