Giovanna Weber Selected Research

Congenital Hypothyroidism (Cretinism)

02/2008	Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism.
09/2007	Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy.
08/2003	Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement.

3	Congenital Hypothyroidism (Cretinism) 02/2008 - 08/2003
2	Hypocalcemia 01/2006 - 04/2004
1	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 01/2004
1	Pseudohypoparathyroidism 09/2003
1	Hypothyroidism 06/2002

1	OxidoreductasesIBA 02/2008
1	perchlorateIBA 09/2007
1	Calcium-Sensing ReceptorsIBA 01/2006
1	CalciumIBA 04/2004
1	21-deoxycortisolIBA 01/2004
1	Growth Hormone-Releasing Hormone (Somatotropin Releasing Hormone)IBA 09/2003
1	Thyroxine (Levothyroxine)FDA LinkGeneric 08/2003
1	Thyrotropin Receptors (Thyrotropin Receptor)IBA 06/2002