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Viviana Varela Selected Research

Goiter

02/2006Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.
06/2005A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
02/2004Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
09/2003Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

Articles by Research Topic

Disease

4Goiter
02/2006 - 09/2003
1Hypothyroidism
06/2005

Drug/Important Bio-Agent (IBA)

2ThyroglobulinFDA Link
06/2005 - 02/2004
1OxidoreductasesIBA
02/2006
1Iodide Peroxidase (Deiodinase)IBA
09/2003