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Samuel Refetoff Selected Research

Congenital Hypothyroidism (Cretinism)

02/2008Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism.
06/2007Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
05/2007Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
10/2003Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.

Articles by Research Topic

Disease

4Congenital Hypothyroidism (Cretinism)
02/2008 - 10/2003
3Hypothyroidism
02/2008 - 11/2003
2Syndrome
06/2007 - 08/2003
1Hyperthyroidism
05/2008
1Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal)
01/2006
1Anoxia (Hypoxia)
12/2005
1Thyroid Dysgenesis (Thyroid Agenesis)
07/2005
1Goiter
01/2004

Drug/Important Bio-Agent (IBA)

4HormonesIBA
06/2007 - 01/2004
2Thyrotropin Receptors (Thyrotropin Receptor)IBA
05/2008 - 11/2003
2Thyrotropin (Thyroid-Stimulating Hormone)FDA Link
02/2008 - 08/2003
2OxidoreductasesIBA
02/2008 - 06/2007
1Thyroid HormonesIBA
02/2008
1Iodide Peroxidase (Deiodinase)IBA
05/2007
13 (or 17)-beta-hydroxysteroid dehydrogenaseIBA
01/2006
1beta Subunit Thyrotropin (Thyrotropin-beta)IBA
08/2004
1Triiodothyronine (Liothyronine)FDA Link
01/2004
1thyroid nuclear factor 1 (thyroid transcription factor 1)IBA
11/2003
1sodium-iodide symporter (sodium iodide symporter)IBA
10/2003