Ana E. Chiesa

B, Argentina

Last Updated: 09/26/2026

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Found 41 publications

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.

Journal: Frontiers in endocrinology

Published: April 15, 2025

A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.

Journal: Endocrine

Published: October 01, 2024

Prevalent genetic alterations in pediatric thyroid carcinoma: Insights from an Argentinean study.

Prevalent genetic alterations in pediatric thyroid carcinoma: Insights from an Argentinean study.

Journal: PloS one

Published: August 28, 2024

Pediatric Graves' disease in Argentina: analyzing treatment strategies and outcomes.

Pediatric Graves' disease in Argentina: analyzing treatment strategies and outcomes.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 16, 2024

Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism.

Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism.

Journal: Frontiers in endocrinology

Published: July 15, 2024

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.

Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.

Journal: Reviews in endocrine & metabolic disorders

Published: December 12, 2023

Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.

Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.

Journal: Molecular genetics and metabolism reports

Published: November 14, 2023

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.

Journal: International journal of molecular sciences

Published: July 04, 2022

Galactose epimerase deficiency: lessons from the GalNet registry.

Galactose epimerase deficiency: lessons from the GalNet registry.

Journal: Orphanet journal of rare diseases

Published: May 24, 2022

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.

Burden of phenylketonuria in Latin American patients: a systematic review and meta-analysis of observational studies.

Journal: Orphanet journal of rare diseases

Published: February 15, 2022

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.

Journal: Endocrine

Published: January 07, 2022

An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.

An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.

Journal: Thyroid : official journal of the American Thyroid Association

Published: November 02, 2021

Showing 1-12 of 41

Last Updated: 09/26/2026