Viviana Varela

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.

Marc Abramowicz, Héctor M. Targovnik, Viviana Varela et al. · Journal of Clinical Investigation · 1992 · 192 citations · Full text

Biology, Mendelian Disorder, Genetic Disorder +13

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

Héctor M. Targovnik, Geraldo Medeiros‐Neto, Viviana Varela et al. · The Journal of Clinical Endocrinology & Metabolism · 1993 · 78 citations

Genetics, Preferential Production, Molecular Biology +21

Three Mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the Dual Oxidase 2 Gene Responsible for Congenital Goiter and Iodide Organification Defect

Viviana Varela, Sebastián Esperante, Laura Gruñeiro‐Papendieck et al. · Clinical Chemistry · 2005 · 65 citations · Full text

A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.

Héctor M. Targovnik, J Vono, Ana Elisa C. Billerbeck et al. · The Journal of Clinical Endocrinology & Metabolism · 1995 · 60 citations

Genetics, Molecular Biology, Pathology +17

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

Viviana J. Gutnisky, Christian M. Moya, Sabina Domené et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 54 citations · Full text

Genome Instability, Allelic Variant, Developmental Biology +14