Héctor M Targovnik Selected Research

Thyroglobulin

1/2021	Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death.
1/2019	The role of thyroglobulin in thyroid hormonogenesis.
1/2018	Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
3/2015	Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
12/2013	Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.
1/2013	New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
1/2012	Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.
4/2011	A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism.
1/2011	Thyroglobulin gene mutations in congenital hypothyroidism.
12/2010	Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.

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Héctor M Targovnik Research Topics

Disease

16	Goiter 01/2021 - 09/2003
14	Hypothyroidism 01/2021 - 08/2003
11	Congenital Hypothyroidism (Cretinism) 01/2022 - 06/2005
3	Thyroid Diseases (Thyroid Disease) 12/2010 - 12/2006
2	Thalassemia 09/2018 - 06/2018
2	Autoimmune Thyroiditis (Lymphomatous Thyroiditis) 12/2010 - 06/2010
1	Graves Disease (Basedow Disease) 01/2019
1	Endocrine System Diseases (Endocrine Diseases) 01/2017
1	Deficiency Diseases (Deficiency Disease) 12/2013
1	Genetic Predisposition to Disease (Genetic Predisposition) 06/2010
1	Thyroid Dysgenesis (Thyroid Agenesis) 05/2008
1	Splenomegaly 01/2007
1	Hemolysis 01/2007
1	Hemoglobinopathies 01/2007
1	Hemolytic Anemia 01/2007
1	Euthyroid Goiter 12/2006
1	Infections 09/2005

Drug/Important Bio-Agent (IBA)

22	Thyroglobulin FDA Link 01/2021 - 08/2003
7	IodidesIBA 01/2019 - 09/2003
4	Dual OxidasesIBA 01/2022 - 02/2006
3	Iodide Peroxidase (Deiodinase)IBA 01/2016 - 09/2003
2	Thyroid HormonesIBA 01/2019 - 01/2017
2	GlobinsIBA 09/2018 - 06/2018
2	Nonsense Codon (Nonsense Mutation)IBA 06/2005 - 01/2005
2	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 09/2004 - 01/2004
1	Thyroxine (Levothyroxine)FDA LinkGeneric 01/2021
1	DNA (Deoxyribonucleic Acid)IBA 12/2013
1	A-Form DNA (A-DNA)IBA 12/2013
1	AutoantigensIBA 12/2010
1	perchlorateIBA 06/2010
1	AntigensIBA 06/2010
1	Paired Box Transcription Factors (Pax Transcription Factors)IBA 05/2008
1	Heme (Haem)IBA 01/2007
1	Valine (L-Valine)FDA Link 01/2007
1	CationsIBA 09/2005
1	Peroxidase (Myeloperoxidase)IBA 09/2005
1	MetalsIBA 09/2005
1	IodineIBA 09/2003

Therapy/Procedure

1	Erythrocyte Transfusion 01/2007