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Page 1
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.
Delea M, Espeche LD, Bruque CD, Bidondo MP, Massara LS, Oliveri J, Brun P, Cosentino VR, Martinoli C, Tolaba N, Picon C, Ponce Zaldua ME, Ávila S, Gutnisky V, Perez M, Furforo L, Buzzalino ND, Liascovich R, Groisman B, Rittler M, Rozental S, Barbero P, Dain L. Delea M, et al. Among authors: gutnisky v. Genes (Basel). 2018 Sep 11;9(9):454. doi: 10.3390/genes9090454. Genes (Basel). 2018. PMID: 30208644 Free PMC article.
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
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