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Page 1
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. J Endocrinol. 2007 Oct;195(1):167-77. doi: 10.1677/JOE-07-0033. J Endocrinol. 2007. PMID: 17911408
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM. Belforte FS, et al. Among authors: gruneiro papendieck l. Clin Endocrinol (Oxf). 2012 Apr;76(4):568-76. doi: 10.1111/j.1365-2265.2011.04249.x. Clin Endocrinol (Oxf). 2012. PMID: 21981063
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. 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
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. 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
27 results