Varela V - Search Results

1

Qualitative and quantitative defects of thyroglobulin resulting in congenital goiter. Absence of gross gene deletion of coding sequences in the TG gene structure.

Medeiros-Neto G, Targovnik H, Knobel M, Propato F, Varela V, Alkmin M, Barbosa S, Wajchenberg BL. Medeiros-Neto G, et al. Among authors: varela v. J Endocrinol Invest. 1989 Dec;12(11):805-13. doi: 10.1007/BF03350067. J Endocrinol Invest. 1989. PMID: 2614017

2

Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis.

Targovnik HM, Varela V, Abatangelo C, Wajchenberg BL, Medeiros-Neto G. Targovnik HM, et al. Among authors: varela v. Thyroid. 1991 Winter;1(4):339-45. doi: 10.1089/thy.1991.1.339. Thyroid. 1991. PMID: 1726786

3

Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis.

Targovnik HM, Varela V, Juvenal GJ, Propato F, Chester HA, Krawiec L, Frechtel G, Moran DH, Perinetti HA, Pisarev MA. Targovnik HM, et al. Among authors: varela v. J Endocrinol Invest. 1990 Nov;13(10):797-806. doi: 10.1007/BF03349625. J Endocrinol Invest. 1990. PMID: 2096156

4

Human thyroid tissue do not express thyroalbumin.

Targovnik HM, Frechtel GD, Varela V, Wajchenberg BL, Vassart G, Dumont J, Medeiros-Neto GA. Targovnik HM, et al. Among authors: varela v. J Endocrinol Invest. 1993 Jun;16(6):415-9. doi: 10.1007/BF03348869. J Endocrinol Invest. 1993. PMID: 8370916

5

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G. Abramowicz MJ, et al. Among authors: varela v. J Clin Invest. 1992 Oct;90(4):1200-4. doi: 10.1172/JCI115981. J Clin Invest. 1992. PMID: 1401057 Free PMC article.

6

Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.

Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G. Targovnik H, et al. Among authors: varela v. J Clin Endocrinol Metab. 1989 Dec;69(6):1137-47. doi: 10.1210/jcem-69-6-1137. J Clin Endocrinol Metab. 1989. PMID: 2584351

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. Among authors: varela v. 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. Among authors: varela v. 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

Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis.

Targovnik HM, Varela V, Frechtel GD, Cerrone GE, Copelli SB, Propato FV, Mendive F. Targovnik HM, et al. Among authors: varela v. Braz J Med Biol Res. 1994 Dec;27(12):2745-57. Braz J Med Biol Res. 1994. PMID: 7549998 Review.

10

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. Among authors: varela v. J Clin Endocrinol Metab. 2004 Feb;89(2):646-57. doi: 10.1210/jc.2003-030587. J Clin Endocrinol Metab. 2004. PMID: 14764776

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