학술논문

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발행년	- (예 : 2010-2015)

Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies

Academic Journal

Massara, L.S.; Delea, M.; Espeche, L.; Bruque, C.D.; Dain, L.; Rozental, S.; Oliveri, J.; Brun, P.; Furforo, L.

In: Cytogenetic and Genome Research. (Cytogenetic and Genome Research, 1 January 2020, 159(3):137-142)

Full Text (Karger) Web of Science JCR 저널정보 Scopus Find it@PNU

Prognostic significance of α- and β2-adrenoceptor gene expression in breast cancer patients

Academic Journal

Rivero, E.M.; Gargiulo, L.; Lüthy, I.A.; Martinez, L.M.; Bruque, C.D.; Bruzzone, A.

In: British Journal of Clinical Pharmacology. (British Journal of Clinical Pharmacology, 2019, 85(9):2143-2154)

Full Text (Wiley Journals) Full Text (Wiley-DB) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

Genetic imbalances in argentinean patients with congenital conotruncal heart defects

Academic Journal

Delea, M.; Espeche, L.D.; Bruque, C.D.; Bidondo, M.P.; Perez, M.; Buzzalino, N.D.; Liascovich, R.; Groisman, B.; Rozental, S.; Barbero, P.; Dain, L.; Massara, L.S.; Oliveri, J.; Brun, P.; Cosentino, V.R.; Martinoli, C.; Tolaba, N.; Picon, C.; Zaldua, M.E.P.; Ávila, S.; Gutnisky, V.; Furforo, L.; Rittler, M.

In: Genes. (Genes, 11 September 2018, 9(9))

Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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

Academic Journal

Simonetti, L.; Bruque, C.D.; Fernández, C.S.; Benavides-Mori, B.; Delea, M.; Espeche, L.D.; Buzzalino, N.D.; Dain, L.; Kolomenski, J.E.; Nadra, A.D.

In: Human Mutation. (Human Mutation, January 2018, 39(1):5-22)

Full Text (Wiley Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

Distribution of FMR1 and FMR2 repeats in Argentinean patients with primary ovarian insufficiency

Academic Journal

Espeche, L.D.; Solari, A.P.; Bruque, C.D.; Delea, M.; Fernández, C.S.; Buzzalino, N.D.; Dain, L.B.; Chiauzzi, V.; Ferder, I.; Charreau, E.H.; Arrar, M.; Belli, S.

In: Genes. (Genes, 16 August 2017, 8(8))

Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

Academic Journal

Bruque, C.D.; Delea, M.; Fernández, C.S.; Orza, J.V.; Taboas, M.; Buzzalino, N.; Espeche, L.D.; Solari, A.; Alba, L.; Dain, L.; Luccerini, V.; Nadra, A.D.

In: Scientific Reports. (Scientific Reports, 14 December 2016, 6)

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Adrenergic receptors in breast cancer

Book

Pérez Piñero, C.; Rivero, E.M.; Gargiulo, L.; Rodríguez, M.S.; Lüthy, I.A.; Bruque, C.D.; Bruzzone, A.

In: G Protein-Coupled Receptors - Part A. (Progress in Molecular Biology and Translational Science, January 2022, 193(1):37-63)

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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

Academic Journal

Fernández, C.S.; Bruque, C.D.; Taboas, M.; Buzzalino, N.D.; Espeche, L.D.; Alba, L.G.; Dain, L.; Charreau, E.H.; Pasqualini, T.; Ghiringhelli, P.D.

In: Endocrine. (Endocrine, 25 September 2015, 50(1):72-78)

Web of Science JCR 저널정보 Scopus Find it@PNU

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

Academic Journal

Taboas, M.; Bruque, C.D.; Buzzalino, N.; Dain, L.; Gómez Acuña, L.; Scaia, M.F.; Ceballos, N.R.; Stivel, M.

In: PLoS ONE. (PLoS ONE, 25 March 2014, 9(3))

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