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Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
Bernal Barquero CE, Geysels RC, Jacques V, Carro GH, Martín M, Peyret V, Abregú MC, Papendieck P, Masini-Repiso AM, Savagner F, Chiesa AE, Citterio CE, Nicola JP. Bernal Barquero CE, et al. Among authors: citterio ce. Int J Mol Sci. 2022 Aug 17;23(16):9251. doi: 10.3390/ijms23169251. Int J Mol Sci. 2022. PMID: 36012511 Free PMC article.
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM, Citterio CE, Rivolta CM. Targovnik HM, et al. Among authors: citterio ce. Horm Res Paediatr. 2011;75(5):311-21. doi: 10.1159/000324882. Epub 2011 Mar 3. Horm Res Paediatr. 2011. PMID: 21372558 Free article. Review.
New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
Citterio CE, Machiavelli GA, Miras MB, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte FS, González-Sarmiento R, Rivolta CM, Targovnik HM. Citterio CE, et al. Mol Cell Endocrinol. 2013 Jan 30;365(2):277-91. doi: 10.1016/j.mce.2012.11.002. Epub 2012 Nov 16. Mol Cell Endocrinol. 2013. PMID: 23164529
Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
Citterio CE, Morales CM, Bouhours-Nouet N, Machiavelli GA, Bueno E, Gatelais F, Coutant R, González-Sarmiento R, Rivolta CM, Targovnik HM. Citterio CE, et al. Mol Cell Endocrinol. 2015 Mar 15;404:102-12. doi: 10.1016/j.mce.2015.01.032. Epub 2015 Jan 26. Mol Cell Endocrinol. 2015. PMID: 25633667
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.
Belforte FS, Citterio CE, Testa G, Olcese MC, Sobrero G, Miras MB, Targovnik HM, Rivolta CM. Belforte FS, et al. Among authors: citterio ce. Mol Cell Endocrinol. 2016 Jan 5;419:172-84. doi: 10.1016/j.mce.2015.10.014. Epub 2015 Oct 24. Mol Cell Endocrinol. 2016. PMID: 26506010
Iodide handling disorders (NIS, TPO, TG, IYD).
Targovnik HM, Citterio CE, Rivolta CM. Targovnik HM, et al. Among authors: citterio ce. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):195-212. doi: 10.1016/j.beem.2017.03.006. Epub 2017 Apr 4. Best Pract Res Clin Endocrinol Metab. 2017. PMID: 28648508 Review.
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
Siffo S, Adrover E, Citterio CE, Miras MB, Balbi VA, Chiesa A, Weill J, Sobrero G, González VG, Papendieck P, Martinez EB, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM. Siffo S, et al. Among authors: citterio ce. Mol Cell Endocrinol. 2018 Sep 15;473:1-16. doi: 10.1016/j.mce.2017.12.009. Epub 2017 Dec 22. Mol Cell Endocrinol. 2018. PMID: 29275168
20 results