Rivolta CM - Search Results

1

Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.

Belforte FS, Citterio CE, Testa G, Olcese MC, Sobrero G, Miras MB, Targovnik HM, Rivolta CM. Belforte FS, et al. Among authors: rivolta cm. Mol Cell Endocrinol. 2016 Jan 5;419:172-84. doi: 10.1016/j.mce.2015.10.014. Epub 2015 Oct 24. Mol Cell Endocrinol. 2016. PMID: 26506010

2

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: rivolta cm. Thyroid. 1999 Sep;9(9):903-12. doi: 10.1089/thy.1999.9.903. Thyroid. 1999. PMID: 10524569

3

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: rivolta cm. Eur J Endocrinol. 2000 Dec;143(6):789-98. doi: 10.1530/eje.0.1430789. Eur J Endocrinol. 2000. PMID: 11124863

4

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. Among authors: rivolta cm. Thyroid. 2001 Jul;11(7):685-90. doi: 10.1089/105072501750362763. Thyroid. 2001. PMID: 11484898

5

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: rivolta cm. Eur J Endocrinol. 2001 Oct;145(4):485-96. doi: 10.1530/eje.0.1450485. Eur J Endocrinol. 2001. PMID: 11581009

6

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. Thyroid. 2002 Sep;12(9):773-9. doi: 10.1089/105072502760339334. Thyroid. 2002. PMID: 12481942

7

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: rivolta cm. Thyroid. 2003 Apr;13(4):319-23. doi: 10.1089/105072503321669785. Thyroid. 2003. PMID: 12804099

8

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: rivolta cm. 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.

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. 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: rivolta cm. 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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