Héctor M Targovnik Selected Research

Thyroglobulin

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.
09/2007	Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
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.
08/2003	Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.

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