Associated Papers
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
Siffo S et al.
Endocrine, 2023
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.
Watanabe D et al.
Endocrine Journal, 2021
Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.
Yang R et al.
Frontiers in Genetics, 2021
34456971 (PubMed )
Supplement: Data_Sheet_2.PDF
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.
Yamaguchi T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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
Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2012
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
Molecular advances in thyroglobulin disorders.
Rivolta CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
Hishinuma A et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
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