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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. 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
A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-García JM, González-Sarmiento R, Targovnik HM. Rivolta CM, et al. J Clin Endocrinol Metab. 2005 Jun;90(6):3766-70. doi: 10.1210/jc.2005-0278. Epub 2005 Mar 15. J Clin Endocrinol Metab. 2005. PMID: 15769978
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
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
277 results