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Thyroid : Official Journal of the American Thyroid Association|June 14, 2003
Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin geneChristian M Moya, Viviana Varela, Carina M Rivolta, et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology|November 8, 2005
Nonsense-associated alternative splicing of the human thyroglobulin geneFernando M Mendive, Carina M Rivolta, Rogelio González-Sarmiento, et al.
Clinical Chemistry|December 3, 2005
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defectViviana Varela, Carina M Rivolta, Sebastián A Esperante, et al.
Molecular and Cellular Endocrinology|December 15, 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 analysisMauricio Gomes Pio, Maricel F Molina, Sofia Siffo, et al.
Clinical Endocrinology|November 6, 2007
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glandsSebastián A Esperante, Carina M Rivolta, Lucrecia Miravalle, et al.
Medicina|July 27, 2005
[The thyroid as a model for molecular mechanisms in genetic diseases]Carina M Rivolta, Christian M Moya, Sebastian A Esperante, et al.
The Journal of Clinical Endocrinology and Metabolism|August 14, 2003
Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidismPhilippe Caron, Christian M Moya, David Malet, et al.
Molecular and Cellular Endocrinology|October 1, 2011
Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19Héctor M Targovnik, Thomas Edouard, Viviana Varela, et al.
Endocrine|October 26, 2010
Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control studyViviana Varela, Leonardo Rizzo, Sabina Domené, et al.
Clinical Endocrinology|June 6, 2007
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defectCarina M Rivolta, Mariana Louis-Tisserand, Viviana Varela, et al.
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