Associated Papers
Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk Factors.
Hermanson JN et al.
Biorxiv : the Preprint Server for Biology, 2025
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Oliver-Petit I et al.
Frontiers in Endocrinology, 2021
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Jolly A et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.
Di Jeso B et al.
Endocrine Reviews, 2016
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM et al.
Hormone Research in Paediatrics, 2011
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2010
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.
Niu DM et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Molecular advances in thyroglobulin disorders.
Rivolta CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Naturally occurring mutations in the thyroglobulin gene.
Vono-Toniolo J et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Vono-Toniolo J et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004