Associated Papers
The First-Ever Investigation of SNP rs119461977 in SECISBP2/SBP2 Gene and its Implications for Hypothyroidism: A Novel Case-Control Research.
Kaur M et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2025
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.
Persani L et al.
European Thyroid Journal, 2024
Selenoprotein deficiency disorder predisposes to aortic aneurysm formation.
Schoenmakers E et al.
Nature Communications, 2023
Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
International Journal of Molecular Sciences, 2021
Human Disorders Affecting the Selenocysteine Incorporation Pathway Cause Systemic Selenoprotein Deficiency.
Schoenmakers E et al.
Antioxidants & Redox Signaling, 2020
Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.
Fu J et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Iodothyronine deiodinases and reduced sensitivity to thyroid hormones.
Paragliola RM et al.
Frontiers in Bioscience (landmark Edition), 2020
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.
Schweizer U et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Inherited defects in thyroid hormone cell-membrane transport and metabolism.
Fu J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2014
The syndromes of reduced sensitivity to thyroid hormone.
Dumitrescu AM et al.
Biochimica Et Biophysica Acta, 2013
Inherited defects of thyroid hormone metabolism.
Dumitrescu AM et al.
Annales D'endocrinologie, 2011
The syndrome of inherited partial SBP2 deficiency in humans.
Dumitrescu AM et al.
Antioxidants & Redox Signaling, 2010
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
Di Cosmo C et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Refetoff S et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2007
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Dumitrescu AM et al.
Nature Genetics, 2005
Resistance to thyroid hormone with and without receptor gene mutations.
Refetoff S
Annales D'endocrinologie, 2003
[Inherited defects of thyroid hormone biosynthesis].
Ieiri T et al.
Ryoikibetsu Shokogun Shirizu, 1993
Inherited defects in thyroid hormone synthesis.
McGirr EM
Annals of Clinical Research, 1972