Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.
Siffo S et al.
Endocrine, 2023
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 gene mutations in Chinese patients with congenital hypothyroidism.
Hu X et al.
Molecular and Cellular Endocrinology, 2016
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Nicotine and oxidative stress induced exomic variations are concordant and overrepresented in cancer-associated genes.
Bavarva JH et al.
Oncotarget, 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
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
Association studies in thyroid cancer susceptibility: are we on the right track?
Landa I et al.
Journal of Molecular Endocrinology, 2011
Association studies in thyroid cancer susceptibility: are we on the right track?
Landa I et al.
Journal of Molecular Endocrinology, 2011
Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study.
Varela V et al.
Endocrine, 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
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