Follow
Héctor M.Targovnik
Héctor M.Targovnik
Profesor Titular Consulto de Genetica -Universidad de Buenos Aires
No verified email
Title
Cited by
Cited by
Year
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
2421992
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
2121991
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
1772001
The role of thyroglobulin in thyroid hormonogenesis
CE Citterio, HM Targovnik, P Arvan
Nature Reviews Endocrinology 15 (6), 323-338, 2019
1722019
Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
G Medeiros-Neto, HM Targovnik, G Vassart
Endocrine reviews 14 (2), 165-183, 1993
1611993
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
1481996
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
1421985
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
1151993
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
1022010
Control of dendritic cell maturation and function by triiodothyronine
ID Mascanfroni, MM Montesinos, S Susperreguy, LA Cervi, JM Ilarregui, ...
Federation of American Societies for Experimental Biology, 2008
1022008
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
1011999
Iodide handling disorders (nis, tpo, tg, iyd)
HM Targovnik, CE Citterio, CM Rivolta
Best Practice & Research Clinical Endocrinology & Metabolism 31 (2), 195-212, 2017
912017
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
892005
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
872006
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
872003
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
861995
Thyroglobulin gene mutations in congenital hypothyroidism
HM Targovnik, CE Citterio, CM Rivolta
Hormone research in paediatrics 75 (5), 311-321, 2011
822011
Molecular advances in thyroglobulin disorders
CM Rivolta, HM Targovnik
Clinica Chimica Acta 374 (1-2), 8-24, 2006
802006
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
732001
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 Domené, V Varela, JV Toniolo, ...
The Journal of Clinical Endocrinology & Metabolism 89 (2), 646-657, 2004
722004
The system can't perform the operation now. Try again later.
Articles 1–20