Carina M. Rivolta

B, Argentina

Last Updated: 09/26/2026

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Found 23 publications

Congenital goitrous hypothyroidism due to thyroglobulin deficiency associated with angioinvasive follicular thyroid carcinoma: comprehensive and integral analysis of the p.Cys1897_Glu1900 deletion.

Congenital goitrous hypothyroidism due to thyroglobulin deficiency associated with angioinvasive follicular thyroid carcinoma: comprehensive and integral analysis of the p.Cys1897_Glu1900 deletion.

Journal: Endocrine

Published: March 03, 2026

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

The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.

The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism.

Journal: Molecular and cellular endocrinology

Published: March 20, 2023

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.

Journal: Endocrine

Published: October 14, 2022

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review.

Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review.

Journal: Molecular and cellular endocrinology

Published: June 22, 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

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.

Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.

Journal: Molecular and cellular endocrinology

Published: February 07, 2021

Structure and genetic variants of thyroglobulin: Pathophysiological implications.

Structure and genetic variants of thyroglobulin: Pathophysiological implications.

Journal: Molecular and cellular endocrinology

Published: November 19, 2020

A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis.

A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis.

Journal: Molecular and cellular endocrinology

Published: November 06, 2020

p.L571P in the linker domain of rat thyroglobulin causes intracellular retention.

p.L571P in the linker domain of rat thyroglobulin causes intracellular retention.

Journal: Molecular and cellular endocrinology

Published: September 30, 2019

Defects in protein folding in congenital hypothyroidism.

Defects in protein folding in congenital hypothyroidism.

Journal: Molecular and cellular endocrinology

Published: July 29, 2019

Showing 1-12 of 23

Last Updated: 09/26/2026