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Page 1
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Genes (Basel). 2018 Sep 11;9(9):454. doi: 10.3390/genes9090454.
Genes (Basel). 2018.
PMID: 30208644
Free PMC article.
[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: gutnisky vj.
Medicina (B Aires). 2005;65(3):257-67.
Medicina (B Aires). 2005.
PMID: 16042141
Review.
Spanish.
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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: gutnisky vj.
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
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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: gutnisky vj.
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.
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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.
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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Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.
Caputo M, et al. Among authors: gutnisky vj.
J Endocrinol. 2007 Oct;195(1):167-77. doi: 10.1677/JOE-07-0033.
J Endocrinol. 2007.
PMID: 17911408
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