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The Journal of Clinical Endocrinology and Metabolism|March 4, 2011
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletionImge Hulur, Pia Hermanns, Claudia Nestoris, et al.
The Journal of Clinical Endocrinology and Metabolism|March 13, 2002
Characterization of T(4)-binding globulin cleaved by human leukocyte elastaseOnno E Janssen, Henriette M B Golcher, Helmut Grasberger, et al.
Thyroid : Official Journal of the American Thyroid Association|January 12, 2013
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanismsPia Hermanns, Helmut Grasberger, Ronald Cohen, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|July 29, 2008
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor geneJeremy Chester, Deborah Rotenstein, Usanee Ringkananont, et al.
Thyroid : Official Journal of the American Thyroid Association|February 26, 2016
Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation FactorsIzuki Amano, Yusuke Takatsuru, Syutaro Toya, et al.
Molecular Endocrinology (Baltimore, Md.)|February 4, 2012
Mice deficient in dual oxidase maturation factors are severely hypothyroidHelmut Grasberger, Xavier De Deken, Olga Barca Mayo, et al.
Molecular and Cellular Endocrinology|February 4, 2010
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidismHelmut Grasberger
Molecular and Cellular Endocrinology|February 19, 2002
Characterization and primary structures of bovine and porcine thyroxine-binding globulinOnno E Janssen, Harald Lahner, Helmut Grasberger, et al.
Molecular Endocrinology (Baltimore, Md.)|December 13, 2005
Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I)Usanee Ringkananont, Joost Van Durme, Lucia Montanelli, et al.
The Journal of Clinical Endocrinology and Metabolism|February 26, 2009
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous communityYardena Tenenbaum-Rakover, Helmut Grasberger, Sunee Mamanasiri, et al.
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