Associated Papers
Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
Tanase-Nakao K et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene.
Agretti P et al.
European Journal of Pediatrics, 2013
Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
Liu S et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2012
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM et al.
Hormone Research in Paediatrics, 2011
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
Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis.
Caputo M et al.
Endocrine, 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 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
Thyroglobulin and human thyroid cancer.
Lin JD
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
Caputo M et al.
Clinical Endocrinology, 2007
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
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
Nonsense-associated alternative splicing of the human thyroglobulin gene.
Mendive FM et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2005
Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
Gutnisky VJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2004