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| Title : Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19 - Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
| Author(s) : Targovnik HM , Edouard T , Varela V , Tauber M , Citterio CE , Gonzalez-Sarmiento R , Rivolta CM |
| Ref : Mol Cell Endocrinol , 348 :313 , 2012 |
| Abstract : Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
| ESTHER : Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
| PubMedSearch : Targovnik_2012_Mol.Cell.Endocrinol_348_313 |
| PubMedID: 21958696 |
| Gene_locus related to this paper: human-TG |
| Title : Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study - Varela_2010_Endocrine_38_320 |
| Author(s) : Varela V , Rizzo L , Domene S , Bruno OD , Tellechea ML , Rivolta CM , Targovnik HM |
| Ref : Endocrine , 38 :320 , 2010 |
| Abstract : Varela_2010_Endocrine_38_320 |
| ESTHER : Varela_2010_Endocrine_38_320 |
| PubMedSearch : Varela_2010_Endocrine_38_320 |
| PubMedID: 20972722 |
| Gene_locus related to this paper: human-TG |
| Title : A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation - Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
| Author(s) : Rivolta CM , Moya CM , Gutnisky VJ , Varela V , Miralles-Garcia JM , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 90 :3766 , 2005 |
| Abstract : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
| ESTHER : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
| PubMedSearch : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766 |
| PubMedID: 15769978 |
| Gene_locus related to this paper: human-TG |
| Title : 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 - Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| Author(s) : Gutnisky VJ , Moya CM , Rivolta CM , Domene S , Varela V , Toniolo JV , Medeiros-Neto G , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 89 :646 , 2004 |
| Abstract : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| ESTHER : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedSearch : Gutnisky_2004_J.Clin.Endocrinol.Metab_89_646 |
| PubMedID: 14764776 |
| Gene_locus related to this paper: human-TG |
| Title : Identification and characterization of a novel large insertion\/deletion polymorphism of 1464 base pair in the human thyroglobulin gene - Moya_2003_Thyroid_13_319 |
| Author(s) : Moya CM , Varela V , Rivolta CM , Mendive FM , Targovnik HM |
| Ref : Thyroid , 13 :319 , 2003 |
| Abstract : Moya_2003_Thyroid_13_319 |
| ESTHER : Moya_2003_Thyroid_13_319 |
| PubMedSearch : Moya_2003_Thyroid_13_319 |
| PubMedID: 12804099 |
| Gene_locus related to this paper: human-TG |
| Title : A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis - Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| Author(s) : Targovnik HM , Vono J , Billerbeck AE , Cerrone GE , Varela V , Mendive F , Wajchenberg BL , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 80 :3356 , 1995 |
| Abstract : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| ESTHER : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedSearch : Targovnik_1995_J.Clin.Endocrinol.Metab_80_3356 |
| PubMedID: 7593451 |
| Gene_locus related to this paper: human-TG |
| Title : Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis - Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
| Author(s) : Targovnik HM , Varela V , Frechtel GD , Cerrone GE , Copelli SB , Propato FV , Mendive F |
| Ref : Brazilian Journal of Medical & Biological Research , 27 :2745 , 1994 |
| Abstract : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
| ESTHER : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
| PubMedSearch : Targovnik_1994_Braz.J.Med.Biol.Res_27_2745 |
| PubMedID: 7549998 |
| Gene_locus related to this paper: human-TG |
| Title : A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger - Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| Author(s) : Targovnik HM , Medeiros-Neto G , Varela V , Cochaux P , Wajchenberg BL , Vassart G |
| Ref : J Clinical Endocrinology Metab , 77 :210 , 1993 |
| Abstract : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| ESTHER : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedSearch : Targovnik_1993_J.Clin.Endocrinol.Metab_77_210 |
| PubMedID: 8325944 |
| Gene_locus related to this paper: human-TG |
| Title : Normal thyroglobulin and thyroperoxidase gene expression in thyroid congenital defective thyroglobulin synthesis - Targovnik_1991_Thyroid_1_339 |
| Author(s) : Targovnik HM , Varela V , Abatangelo C , Wajchenberg BL , Medeiros-Neto G |
| Ref : Thyroid , 1 :339 , 1991 |
| Abstract : Targovnik_1991_Thyroid_1_339 |
| ESTHER : Targovnik_1991_Thyroid_1_339 |
| PubMedSearch : Targovnik_1991_Thyroid_1_339 |
| PubMedID: 1726786 |
| Gene_locus related to this paper: human-TG |
| Title : Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis - Targovnik_1990_J.Endocrinol.Invest_13_797 |
| Author(s) : Targovnik HM , Varela V , Juvenal GJ , Propato F , Chester HA , Krawiec L , Frechtel G , Moran DH , Perinetti HA , Pisarev MA |
| Ref : J Endocrinol Invest , 13 :797 , 1990 |
| Abstract : Targovnik_1990_J.Endocrinol.Invest_13_797 |
| ESTHER : Targovnik_1990_J.Endocrinol.Invest_13_797 |
| PubMedSearch : Targovnik_1990_J.Endocrinol.Invest_13_797 |
| PubMedID: 2096156 |
| Gene_locus related to this paper: human-TG |
| Title : Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis - Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| Author(s) : Targovnik H , Propato F , Varela V , Wajchenberg B , Knobel M , D'Abronzo HF , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 69 :1137 , 1989 |
| Abstract : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| ESTHER : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedSearch : Targovnik_1989_J.Clin.Endocrinol.Metab_69_1137 |
| PubMedID: 2584351 |
| Title : Qualitative and quantitative defects of thyroglobulin resulting in congenital goiter. Absence of gross gene deletion of coding sequences in the TG gene structure - Medeiros-Neto_1989_J.Endocrinol.Invest_12_805 |
| Author(s) : Medeiros-Neto G , Targovnik H , Knobel M , Propato F , Varela V , Alkmin M , Barbosa S , Wajchenberg BL |
| Ref : J Endocrinol Invest , 12 :805 , 1989 |
| Abstract : Medeiros-Neto_1989_J.Endocrinol.Invest_12_805 |
| ESTHER : Medeiros-Neto_1989_J.Endocrinol.Invest_12_805 |
| PubMedSearch : Medeiros-Neto_1989_J.Endocrinol.Invest_12_805 |
| PubMedID: 2614017 |