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

by Melisa Taboas, Cecilia Fernández, Susana Belli, Noemi Buzzalino, Liliana Alba, Liliana Dain
Published 2013-01-01

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

by Melisa Taboas, Luciana Gómez Acuña, María Florencia Scaia, Carlos D Bruque, Noemí Buzzalino, Mirta Stivel, Nora R Ceballos, Liliana Dain
Published 2014-01-01

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.

by Carolina Minutolo, Alejandro D Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H Charreau, Liliana Alba, Liliana Dain
Published 2011-01-01

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

by Marisol Delea, Lucía D. Espeche, Carlos D. Bruque, María Paz Bidondo, Lucía S. Massara, Jaen Oliveri, Paloma Brun, Viviana R. Cosentino, Celeste Martinoli, Norma Tolaba, Claudina Picon, María Eugenia Ponce Zaldua, Silvia Ávila, Viviana Gutnisky, Myriam Perez, Lilian Furforo, Noemí D. Buzzalino, Rosa Liascovich, Boris Groisman, Mónica Rittler, Sandra Rozental, Pablo Barbero, Liliana Dain
Published 2018-09-01