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List of works by Carlos D Bruque

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

scientific article published on 16 October 2017

Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.

scientific article

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

scientific article published on 30 November 2019

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

scientific article

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

scientific article published on 21 October 2020

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

article

Genetic characterization of a large cohort of Argentine 21-hydroxylase deficiency

scientific article published on 14 April 2020

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

scientific article published on 17 July 2015

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

scientific article published in 2022

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

scientific article published on 31 July 2019

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

scientific article published on 14 December 2016

Update of genetic variants in the NKX2-5 gene

scientific article published on 05 May 2020

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