Search Results - "Buzzalino, Noemí D"

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants by Simonetti, Leandro, Bruque, Carlos D., Fernández, Cecilia S., Benavides‐Mori, Belén, Delea, Marisol, Kolomenski, Jorge E., Espeche, Lucía D., Buzzalino, Noemí D., Nadra, Alejandro D., Dain, Liliana

“…Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21‐hydroxylation account for…”
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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 by Fernández, Cecilia S., Bruque, Carlos D., Taboas, Melisa, Buzzalino, Noemí D., Espeche, Lucia D., Pasqualini, Titania, Charreau, Eduardo H., Alba, Liliana G., Ghiringhelli, Pablo D., Dain, Liliana

“…The aim of the current study was to search for the presence of genetic variants in the CYP21A2 Z promoter regulatory region in patients with congenital adrenal…”
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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects by Delea, Marisol, Espeche, Lucía D, Bruque, Carlos D, Bidondo, María Paz, Massara, Lucía S, Oliveri, Jaen, Brun, Paloma, Cosentino, Viviana R, Martinoli, Celeste, Tolaba, Norma, Picon, Claudina, Ponce Zaldua, María Eugenia, Ávila, Silvia, Gutnisky, Viviana, Perez, Myriam, Furforo, Lilian, Buzzalino, Noemí D, Liascovich, Rosa, Groisman, Boris, Rittler, Mónica, Rozental, Sandra, Barbero, Pablo, Dain, Liliana

“…Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its…”
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Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients by Dain, Liliana B., Buzzalino, Noemí D., Oneto, Adriana, Belli, Susana, Stivel, Mirta, Pasqualini, Titania, Minutolo, Carolina, Charreau, Eduardo H., Alba, Liliana G.

“…Summary objective To characterize the molecular basis of the 21‐hydroxylase deficiency in a group of Argentine patients presenting the classical and…”
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