1. 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. (15th February 2021) Authors: Pio, Mauricio Gomes; Molina, Maricel F.; Siffo, Sofia; Chiesa, Ana; Rivolta, Carina M.; Targovnik, Héctor M. Journal: Molecular and cellular endocrinology Issue: Volume 522(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms. (20th August 2021) Authors: Pio, Mauricio Gomes; Siffo, Sofia; Scheps, Karen G.; Molina, Maricel F.; Adrover, Ezequiela; Abelleyro, Miguel M.; Rivolta, Carina M.; Targovnik, Héctor M. Journal: Molecular and cellular endocrinology Issue: Volume 534(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review. (1st December 2022) Authors: Molina, Maricel F.; Pio, Mauricio Gomes; Scheps, Karen G.; Adrover, Ezequiela; Abelleyro, Miguel M.; Targovnik, Héctor M.; Rivolta, Carina M. Journal: Molecular and cellular endocrinology Issue: Volume 558(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. P.L571P in the linker domain of rat thyroglobulin causes intracellular retention. (5th April 2020) Authors: Citterio, Cintia E.; Siffo, Sofia; Moya, Christian M.; Pio, Mauricio Gomes; Molina, Maricel F.; Scheps, Karen G.; Rey, Osvaldo A.; Arvan, Peter; Rivolta, Carina M.; Targovnik, Héctor M. Journal: Molecular and cellular endocrinology Issue: Volume 505(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗