Héctor M Targovnik Selected Research

Goiter

10/2007	Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
02/2006	Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.
06/2005	A 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.
02/2004	Two 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.
09/2003	Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

5	Goiter 10/2007 - 09/2003
3	Hypothyroidism 10/2007 - 08/2003
1	Congenital Hypothyroidism (Cretinism) 09/2007

5	Thyroglobulin FDA Link 10/2007 - 08/2003
1	OxidoreductasesIBA 02/2006
1	Iodide Peroxidase (Deiodinase)IBA 09/2003