Associated Papers
Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk Factors.
Hermanson JN et al.
Biorxiv : the Preprint Server for Biology, 2025
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
Siffo S et al.
Endocrine, 2023
Genetics and epigenetics of autoimmune thyroid diseases: Translational implications.
Lee HJ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2023
Orbital metastasis from thyroid cancer: a case report and review of the literature.
Sapuppo G et al.
Annals of Palliative Medicine, 2022
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.
Hu X et al.
Molecular and Cellular Endocrinology, 2016
Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.
Citterio CE et al.
Molecular and Cellular Endocrinology, 2013
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
Citterio CE et al.
Molecular and Cellular Endocrinology, 2013
Common variants of the thyroglobulin gene are associated with differentiated thyroid cancer risk.
Akdi A et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.
Raef H et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
Machiavelli GA et al.
Clinical 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
The genetic basis of thyroid autoimmunity.
Jacobson EM et al.
Thyroid : Official Journal of the American Thyroid Association, 2007
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
Caputo M et al.
The Journal of Endocrinology, 2007
Molecular advances in thyroglobulin disorders.
Rivolta CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
Rivolta CM et al.
The Journal of Clinical Endocrinology and Metabolism, 2005