J Vono

Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones.

Geraldo Medeiros‐Neto, Pan Suk Kim, Sung Eun Yoo et al. · Journal of Clinical Investigation · 1996 · 132 citations · Full text

Molecular Chaperones, Developmental Biology, Congenital Hypothyroid Goiter +11

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

Congenital Goiter with Hypothyroidism Caused by a 5′ Splice Site Mutation in the Thyroglobulin Gene

Héctor M. Targovnik, Fernando Mendive, Christian M. Moya et al. · Thyroid · 2001 · 52 citations

Thyroglobulin Gene, Genetics, Molecular Biology +18

Evidence for the Segregation of Three Different Mutated Alleles of the Thyroglobulin Gene in a Brazilian Family with Congenital Goiter and Hypothyroidism

Héctor M. Targovnik, Gustavo Frechtel, Fernando Mendive et al. · Thyroid · 1998 · 27 citations

Thyroglobulin Gene, Normal Thyroid Function, Genetics +16

The Effect of Oral Administration of Iodine to Patients with Goiter and Hypothyroidism due to Defective Synthesis of Thyroglobulin

J Vono, Nicolau Lima, Meyer Knobel et al. · Thyroid · 1996 · 26 citations