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

2

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

3

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

4

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

5

A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.

Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-García JM, González-Sarmiento R, Targovnik HM. Rivolta CM, et al. Among authors: moya cm. J Clin Endocrinol Metab. 2005 Jun;90(6):3766-70. doi: 10.1210/jc.2005-0278. Epub 2005 Mar 15. J Clin Endocrinol Metab. 2005. PMID: 15769978

6

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

7

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

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: moya 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. Among authors: moya cm. Hum Mutat. 2003 Sep;22(3):259. doi: 10.1002/humu.9175. Hum Mutat. 2003. PMID: 12938097

10

[The thyroid as a model for molecular mechanisms in genetic diseases].

Rivolta CM, Moya CM, Esperante SA, Gutnisky VJ, Varela V, Targovnik HM. Rivolta CM, et al. Among authors: moya cm. Medicina (B Aires). 2005;65(3):257-67. Medicina (B Aires). 2005. PMID: 16042141 Review. Spanish.

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