Associated Papers
Molecular insights into the role of genetic determinants of congenital hypothyroidism.
Kollati Y et al.
Genomics & Informatics, 2021
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
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
Defective protein folding and intracellular retention of thyroglobulin-R19K mutant as a cause of human congenital goiter.
Kim PS et al.
Molecular Endocrinology (baltimore, Md.), 2008
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
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
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
Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene.
Moya CM et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
Ozisik G et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene.
Rivolta CM et al.
Thyroid : Official Journal of the American Thyroid Association, 2002
Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.
Targovnik HM et al.
Thyroid : Official Journal of the American Thyroid Association, 2001