Associated Papers
Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.
Fernández-Cancio M et al.
Frontiers in Endocrinology, 2024
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations.
Tanase-Nakao K et al.
Hormone Research in Paediatrics, 2018
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
Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.
Chiesa A et al.
Endocrine, 2010
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 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
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
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
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.
Hishinuma A et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
Szinnai G et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.
Alzahrani AS et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Naturally occurring mutations in the thyroglobulin gene.
Vono-Toniolo J et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations.
Hishinuma A 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
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
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Vono-Toniolo J et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.
Caron P et al.
The Journal of Clinical Endocrinology and Metabolism, 2003