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Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment

Frontiers in endocrinology (Lausanne), 2022-08, Vol.13, p.995151-995151

2022

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

Genes, 2017-08, Vol.8 (8), p.194

2017

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

PloS one, 2011-01, Vol.6 (1), p.e15899-e15899

2011

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Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat

Reproduction (Cambridge, England), 2013-04, Vol.145 (4), p.335-343

2013

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

PloS one, 2014-03, Vol.9 (3), p.e92181-e92181

2014

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Expression and characterisation of

Reproduction fertility and development, 2022-09, Vol.34 (16), p.1034-1042

2022

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

Case reports in genetics, 2013-01, Vol.2013 (2013), p.1-4

2013

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

Human mutation, 2018-01, Vol.39 (1), p.5-22

2018

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Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families

Archivos argentinos de pediatría, 2019-06, Vol.117 (3), p.e257

2019

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A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome

Clinical dysmorphology, 2020-01, Vol.29 (1), p.42-45

2020

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Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay

Archives of biochemistry and biophysics, 2022-01, Vol.715, p.109086, Article 109086

2022

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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Human molecular genetics, 2018-04, Vol.27 (7), p.1228-1240

2018

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Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients

Clinical endocrinology (Oxford), 2002-02, Vol.56 (2), p.239-245

2002

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An update on genetic variants of the NKX2‐5

Human mutation, 2020-07, Vol.41 (7), p.1187-1208

2020

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Genetic characterization of a large cohort of Argentine 21‐hydroxylase Deficiency

Clinical endocrinology (Oxford), 2020-07, Vol.93 (1), p.19-27

2020

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Genetics and genomic medicine in Argentina

Molecular genetics & genomic medicine, 2019-04, Vol.7 (4), p.e00571-n/a

2019

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

Scientific reports, 2016-12, Vol.6 (1), p.39082-39082, Article 39082

2016

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

Cytogenetic and genome research, 2019-01, Vol.159 (3), p.137-142

2019

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Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

Molecular biology reports, 2020-09, Vol.47 (9), p.6863-6878

2020

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Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2AG Mutations of the CYP21A2 Gene

PloS one, 2014-03, Vol.9 (3), p.e92181

2014

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ANALISIS DE ANOMALIAS CROMOSOMICAS, DESBALANCES GENÓMICOS Y VARIANTES DE SECUENCIA COMO CAUSA DE CARDIOPATÍAS CONGÉNITAS

Revista argentina de salud pública, 2021-02, Vol.13, p.81-90

2021

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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

Endocrine, 2015-09, Vol.50 (1), p.72-78

2015

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Frataxin Structure and Function

Macromolecular Protein Complexes II: Structure and Function, 2019, Vol.93, p.393-438

2019

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Structural and functional comparison of SARS-CoV-2-spike receptor binding domain produced in Pichia pastoris and mammalian cells

Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment

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

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

Expression of fragile X mental retardation protein and Fmr1 mRNA during folliculogenesis in the rat

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

Expression and characterisation of

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

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

Fragile X syndrome and other entities associated with the FMR1 gene: Study of 28 affected families

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome

Conformational stability, dynamics and function of human frataxin: Tryptophan side chain interplay

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Classical and nonclassical 21-hydroxylase deficiency: a molecular study of Argentine patients

An update on genetic variants of the NKX2‐5

Genetic characterization of a large cohort of Argentine 21‐hydroxylase Deficiency

Genetics and genomic medicine in Argentina

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

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

Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2AG Mutations of the CYP21A2 Gene

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease

ANALISIS DE ANOMALIAS CROMOSOMICAS, DESBALANCES GENÓMICOS Y VARIANTES DE SECUENCIA COMO CAUSA DE CARDIOPATÍAS CONGÉNITAS

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

Frataxin Structure and Function

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