Associated Papers
Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review.
Liu S et al.
Maternal-fetal Medicine (wolters Kluwer Health, Inc.), 2023
A Novel Mutation in the Thyroglobulin Gene Resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant
Stern E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Stoupa A et al.
Frontiers in Endocrinology, 2020
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
Watanabe Y et al.
Bmc Medical Genetics, 2018
Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.
Di Jeso B et al.
Endocrine Reviews, 2016
Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.
Cangul H et al.
Endocrine, 2014
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
Congenital hypothyroidism mutations affect common folding and trafficking in the α/β-hydrolase fold proteins.
De Jaco A et al.
The Febs Journal, 2012
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM et al.
Hormone Research in Paediatrics, 2011
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.
Chiesa A et al.
Endocrine, 2010
New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.
Peteiro-Gonzalez D et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2010
Cis and trans actions of the cholinesterase-like domain within the thyroglobulin dimer.
Wang X et al.
The Journal of Biological Chemistry, 2010
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
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
Pardo V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
The cholinesterase-like domain, essential in thyroglobulin trafficking for thyroid hormone synthesis, is required for protein dimerization.
Lee J et al.
The Journal of Biological Chemistry, 2009
A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation.
Rubio IG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
The cholinesterase-like domain of thyroglobulin functions as an intramolecular chaperone.
Lee J et al.
The Journal of Clinical Investigation, 2008
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
Pardo V et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
Caputo M et al.
Clinical Endocrinology, 2007