Targovnik HM - Search Results

1

Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).

Chiesa A, Olcese MC, Papendieck P, Martinez A, Vieites A, Bengolea S, Targovnik HM, Rivolta CM, Gruñeiro-Papendieck L. Chiesa A, et al. Among authors: targovnik hm. Endocrine. 2012 Feb;41(1):130-7. doi: 10.1007/s12020-011-9518-6. Epub 2011 Aug 26. Endocrine. 2012. PMID: 21870171

2

A new point mutation (M313T) in the thyroid hormone receptor beta gene in a patient with resistance to thyroid hormone.

di Fulvio M, Chiesa AE, Baranzini SE, Gruñiero-Papendieck L, Masini-Repiso AM, Targovnik HM. di Fulvio M, et al. Among authors: targovnik hm. Thyroid. 1997 Feb;7(1):43-4. doi: 10.1089/thy.1997.7.43. Thyroid. 1997. PMID: 9086569

3

Genomic organization of the 3' region of the human thyroglobulin gene.

Mendive FM, Rivolta CM, Vassart G, Targovnik HM. Mendive FM, et al. Among authors: targovnik hm. Thyroid. 1999 Sep;9(9):903-12. doi: 10.1089/thy.1999.9.903. Thyroid. 1999. PMID: 10524569

4

Genomic organization of the 5' region of the human thyroglobulin gene.

Moya CM, Mendive FM, Rivolta CM, Vassart G, Targovnik HM. Moya CM, et al. Among authors: targovnik hm. Eur J Endocrinol. 2000 Dec;143(6):789-98. doi: 10.1530/eje.0.1430789. Eur J Endocrinol. 2000. PMID: 11124863

5

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

6

Genomic organization of the human thyroglobulin gene: the complete intron-exon structure.

Mendive FM, Rivolta CM, Moya CM, Vassart G, Targovnik HM. Mendive FM, et al. Among authors: targovnik hm. Eur J Endocrinol. 2001 Oct;145(4):485-96. doi: 10.1530/eje.0.1450485. Eur J Endocrinol. 2001. PMID: 11581009

7

Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene.

Rivolta CM, Moya CM, Mendive FM, Targovnik HM. Rivolta CM, et al. Among authors: targovnik hm. Thyroid. 2002 Sep;12(9):773-9. doi: 10.1089/105072502760339334. Thyroid. 2002. PMID: 12481942

8

Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene.

Moya CM, Varela V, Rivolta CM, Mendive FM, Targovnik HM. Moya CM, et al. Among authors: targovnik hm. Thyroid. 2003 Apr;13(4):319-23. doi: 10.1089/105072503321669785. Thyroid. 2003. PMID: 12804099

9

Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.

Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM. Caron P, et al. Among authors: targovnik hm. J Clin Endocrinol Metab. 2003 Aug;88(8):3546-53. doi: 10.1210/jc.2002-021744. J Clin Endocrinol Metab. 2003. PMID: 12915634 Clinical Trial.

10

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.

Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Moya CM, Domené S, Varela V, Targovnik HM. Rivolta CM, et al. Among authors: targovnik hm. Hum Mutat. 2003 Sep;22(3):259. doi: 10.1002/humu.9175. Hum Mutat. 2003. PMID: 12938097

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