Medeiros-Neto G - Search Results

1

Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.

Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Vono J, Medeiros-Neto G. Targovnik HM, et al. Thyroid. 2001 Jul;11(7):685-90. doi: 10.1089/105072501750362763. Thyroid. 2001. PMID: 11484898

2

Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.

Pardo V, Rubio IG, Knobel M, Aguiar-Oliveira MH, Santos MM, Gomes SA, Oliveira CR, Targovnik HM, Medeiros-Neto G. Pardo V, et al. Thyroid. 2008 Jul;18(7):783-6. doi: 10.1089/thy.2007.0321. Thyroid. 2008. PMID: 18631008

3

Naturally occurring mutations in the thyroglobulin gene.

Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P. Vono-Toniolo J, et al. Thyroid. 2005 Sep;15(9):1021-33. doi: 10.1089/thy.2005.15.1021. Thyroid. 2005. PMID: 16187910 Review.

4

Nonsense-associated alternative splicing of the human thyroglobulin gene.

Mendive FM, Rivolta CM, González-Sarmiento R, Medeiros-Neto G, Targovnik HM. Mendive FM, et al. Mol Diagn. 2005;9(3):143-9. doi: 10.1007/BF03260082. Mol Diagn. 2005. PMID: 16271015

5

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

6

Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.

Gutnisky VJ, Moya CM, Rivolta CM, Domené S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM. Gutnisky VJ, et al. J Clin Endocrinol Metab. 2004 Feb;89(2):646-57. doi: 10.1210/jc.2003-030587. J Clin Endocrinol Metab. 2004. PMID: 14764776

7

A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.

Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G. Targovnik HM, et al. J Clin Endocrinol Metab. 1995 Nov;80(11):3356-60. doi: 10.1210/jcem.80.11.7593451. J Clin Endocrinol Metab. 1995. PMID: 7593451

8

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G. Targovnik HM, et al. J Clin Endocrinol Metab. 1993 Jul;77(1):210-5. doi: 10.1210/jcem.77.1.8325944. J Clin Endocrinol Metab. 1993. PMID: 8325944

9

The effect of oral administration of iodine to patients with goiter and hypothyroidism due to defective synthesis of thyroglobulin.

Vono J, Lima N, Knobel M, Medeiros-Neto G. Vono J, et al. Thyroid. 1996 Feb;6(1):11-5. doi: 10.1089/thy.1996.6.11. Thyroid. 1996. PMID: 8777378

10

Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.

Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G. Targovnik HM, et al. Thyroid. 1998 Apr;8(4):291-7. doi: 10.1089/thy.1998.8.291. Thyroid. 1998. PMID: 9588493

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