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449 results

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Page 1
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: chiesa a. 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
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
Rivolta CM, Louis-Tisserand M, Varela V, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM. Rivolta CM, et al. Among authors: chiesa a. Clin Endocrinol (Oxf). 2007 Aug;67(2):238-46. doi: 10.1111/j.1365-2265.2007.02869.x. Epub 2007 Jun 4. Clin Endocrinol (Oxf). 2007. PMID: 17547680
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, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM. Caputo M, et al. Among authors: chiesa a. J Endocrinol. 2007 Oct;195(1):167-77. doi: 10.1677/JOE-07-0033. J Endocrinol. 2007. PMID: 17911408
Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruñeiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM. Rivolta CM, et al. Among authors: chiesa a. Mol Cell Probes. 2009 Jun-Aug;23(3-4):148-53. doi: 10.1016/j.mcp.2009.02.002. Epub 2009 Mar 4. Mol Cell Probes. 2009. PMID: 19268523
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, Caputo M, Rivolta CM, Olcese MC, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM. Machiavelli GA, et al. Among authors: chiesa a. Clin Endocrinol (Oxf). 2010 Jan;72(1):112-21. doi: 10.1111/j.1365-2265.2009.03621.x. Epub 2009 May 2. Clin Endocrinol (Oxf). 2010. PMID: 19438905
449 results