Graciela Testa

Iodide Transport Defect: Functional Characterization of a Novel Mutation in the Na+/I− Symporter 5′-Untranslated Region in a Patient with Congenital Hypothyroidism

Juan P. Nicola, Magalí Nazar, Caroline Serrano‐Nascimento et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 43 citations · Full text

Medicine, Endocrinology, Molecular Biology +17

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene

Fiorella S. Belforte, Mirta Miras, María C. Olcese et al. · Clinical Endocrinology · 2011 · 41 citations · Full text

Life Sciences, Endocrinology, Genetics +17

New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

Cintia E. Citterio, Gloria A. Machiavelli, Mirta Miras et al. · Molecular and Cellular Endocrinology · 2012 · 35 citations · Full text

Medicine, Endocrinology, Molecular Genetics +14

A Novel<i>SLC5A5</i>Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis

Mariano Martín, Carlos P. Modenutti, Mauco Lucas Gil Rosas et al. · The Journal of Clinical Endocrinology & Metabolism · 2021 · 23 citations · Full text

Life Sciences, Endocrinology, Genetics +15

Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism

Romina C. Geysels, Carlos Eduardo Bernal Barquero, Mariano Martín et al. · Frontiers in Endocrinology · 2022 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16