Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. MJ Abramowicz, HM Targovnik, V Varela, P Cochaux, L Krawiec, ... The Journal of clinical investigation 90 (4), 1200-1204, 1992 | 245 | 1992 |
A 3'splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. T Ieiri, P Cochaux, HM Targovnik, M Suzuki, S Shimoda, J Perret, ... The Journal of clinical investigation 88 (6), 1901-1905, 1991 | 213 | 1991 |
The role of thyroglobulin in thyroid hormonogenesis CE Citterio, HM Targovnik, P Arvan Nature Reviews Endocrinology 15 (6), 323-338, 2019 | 204 | 2019 |
Up to date with human thyroglobulin SA Van de Graaf, C Ris-Stalpers, E Pauws, FM Mendive, HM Targovnik, ... Journal of Endocrinology 170 (2), 307-321, 2001 | 179 | 2001 |
Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism G Medeiros-Neto, HM Targovnik, G Vassart Endocrine reviews 14 (2), 165-183, 1993 | 159 | 1993 |
Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. G Medeiros-Neto, PS Kim, SE Yoo, J Vono, HM Targovnik, R Camargo, ... The Journal of clinical investigation 98 (12), 2838-2844, 1996 | 146 | 1996 |
An unusually long poly (purine)-poly (pyrimidine) sequence is located upstream from the human thyroglobulin gene D Christophe, B Cabrer, A Bacolla, H Targovnik, V Pohl, G Vassart Nucleic acids research 13 (14), 5127-5144, 1985 | 140 | 1985 |
A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger HM Targovnik, G Medeiros-Neto, V Varela, P Cochaux, BL Wajchenberg, ... The Journal of Clinical Endocrinology & Metabolism 77 (1), 210-215, 1993 | 111 | 1993 |
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations HM Targovnik, SA Esperante, CM Rivolta Molecular and cellular endocrinology 322 (1-2), 44-55, 2010 | 109 | 2010 |
Iodide handling disorders (nis, tpo, tg, iyd) HM Targovnik, CE Citterio, CM Rivolta Best Practice & Research Clinical Endocrinology & Metabolism 31 (2), 195-212, 2017 | 104 | 2017 |
Control of dendritic cell maturation and function by triiodothyronine ID Mascanfroni, MM Montesinos, S Susperreguy, S AMERICA, ... Federation of American Societies for Experimental Biology, 2008 | 104 | 2008 |
Viability and infectiousness of eggs of Echinococcus granulosus aged under natural conditions of inferior arid climate PS Thevenet, O Jensen, R Drut, GE Cerrone, MS Grenóvero, HM Alvarez, ... Veterinary Parasitology 133 (1), 71-77, 2005 | 100 | 2005 |
A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism SAR van de Graaf, C Ris-Stalpers, GJM Veenboer, M Cammenga, ... The Journal of Clinical Endocrinology & Metabolism 84 (7), 2537-2542, 1999 | 100 | 1999 |
Thyroglobulin gene mutations in congenital hypothyroidism HM Targovnik, CE Citterio, CM Rivolta Hormone research in paediatrics 75 (5), 311-321, 2011 | 91 | 2011 |
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 V Varela, CM Rivolta, SA Esperante, L Gruneiro-Papendieck, A Chiesa, ... Clinical chemistry 52 (2), 182-191, 2006 | 88 | 2006 |
Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→ A [R2223H]) resulting in fetal goitrous hypothyroidism P Caron, CM Moya, D Malet, VJ Gutnisky, B Chabardes, CM Rivolta, ... The Journal of Clinical Endocrinology & Metabolism 88 (8), 3546-3553, 2003 | 88 | 2003 |
A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis HM Targovnik, J Vono, AE Billerbeck, GE Cerrone, V Varela, F Mendive, ... The Journal of Clinical Endocrinology & Metabolism 80 (11), 3356-3360, 1995 | 83 | 1995 |
Molecular advances in thyroglobulin disorders CM Rivolta, HM Targovnik Clinica Chimica Acta 374 (1-2), 8-24, 2006 | 81 | 2006 |
Genomic organization of the human thyroglobulin gene: the complete intron-exon structure FM Mendive, CM Rivolta, CM Moya, G Vassart, HM Targovnik European journal of endocrinology 145 (4), 485-496, 2001 | 74 | 2001 |
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 … VJ Gutnisky, CM Moya, CM Rivolta, S Domene, V Varela, JV Toniolo, ... The Journal of Clinical Endocrinology & Metabolism 89 (2), 646-657, 2004 | 71 | 2004 |