Cecilia S. Fernandez

B, Argentina

Last Updated: 09/26/2026

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Found 11 publications

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.

High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing.

Journal: Scientific reports

Published: March 21, 2025

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

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

Journal: Genes

Published: April 29, 2022

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.

Journal: Ophthalmic genetics

Published: February 18, 2021

First custom next-generation sequencing infertility panel in Latin America: design and first results.

First custom next-generation sequencing infertility panel in Latin America: design and first results.

Journal: JBRA assisted reproduction

Published: March 11, 2020

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Journal: Clinical endocrinology

Published: March 10, 2020

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

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

Journal: Human mutation

Published: July 08, 2017

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

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

Journal: Genes

Published: May 21, 2017

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

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

Journal: Scientific reports

Published: July 24, 2016

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.

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.

Journal: Endocrine

Published: April 17, 2015

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

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

Journal: Case reports in genetics

Published: May 13, 2013

Final height in symptomatic boys with late-onset adrenal hyperplasia (LOCAH), treated with glucocorticoids. Clinical cases

Final height in symptomatic boys with late-onset adrenal hyperplasia (LOCAH), treated with glucocorticoids. Clinical cases

Journal: Archivos argentinos de pediatria

Published: April 10, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026