Targovnik HM - Search Results

1

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.

Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM. Molina MF, et al. Among authors: targovnik hm. Endocrine. 2022 Jun;77(1):86-101. doi: 10.1007/s12020-022-03054-3. Epub 2022 May 4. Endocrine. 2022. PMID: 35507000

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

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

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: targovnik hm. 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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