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| Title : p.L571P in the linker domain of rat thyroglobulin causes intracellular retention - Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| Author(s) : Citterio CE , Siffo S , Moya CM , Pio MG , Molina MF , Scheps KG , Rey OA , Arvan P , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 505 :110719 , 2020 |
| Abstract : Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| ESTHER : Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| PubMedSearch : Citterio_2020_Mol.Cell.Endocrinol_505_110719 |
| PubMedID: 31972331 |
| 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 : Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism - Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| Author(s) : Caron P , Moya CM , Malet D , Gutnisky VJ , Chabardes B , Rivolta CM , Targovnik HM |
| Ref : J Clinical Endocrinology Metab , 88 :3546 , 2003 |
| Abstract : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| ESTHER : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedSearch : Caron_2003_J.Clin.Endocrinol.Metab_88_3546 |
| PubMedID: 12915634 |
| Gene_locus related to this paper: human-TG |
| Title : Genotyping and characterization of two polymorphic microsatellite markers located within introns 29 and 30 of the human thyroglobulin gene - Rivolta_2002_Thyroid_12_773 |
| Author(s) : Rivolta CM , Moya CM , Mendive FM , Targovnik HM |
| Ref : Thyroid , 12 :773 , 2002 |
| Abstract : Rivolta_2002_Thyroid_12_773 |
| ESTHER : Rivolta_2002_Thyroid_12_773 |
| PubMedSearch : Rivolta_2002_Thyroid_12_773 |
| PubMedID: 12481942 |
| Gene_locus related to this paper: human-TG |
| Title : Genomic organization of the human thyroglobulin gene: the complete intron-exon structure - Mendive_2001_Eur.J.Endocrinol_145_485 |
| Author(s) : Mendive FM , Rivolta CM , Moya CM , Vassart G , Targovnik HM |
| Ref : European Journal of Endocrinology , 145 :485 , 2001 |
| Abstract : Mendive_2001_Eur.J.Endocrinol_145_485 |
| ESTHER : Mendive_2001_Eur.J.Endocrinol_145_485 |
| PubMedSearch : Mendive_2001_Eur.J.Endocrinol_145_485 |
| PubMedID: 11581009 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene - Targovnik_2001_Thyroid_11_685 |
| Author(s) : Targovnik HM , Rivolta CM , Mendive FM , Moya CM , Vono J , Medeiros-Neto G |
| Ref : Thyroid , 11 :685 , 2001 |
| Abstract : Targovnik_2001_Thyroid_11_685 |
| ESTHER : Targovnik_2001_Thyroid_11_685 |
| PubMedSearch : Targovnik_2001_Thyroid_11_685 |
| PubMedID: 11484898 |
| Gene_locus related to this paper: human-TG |
| Title : Genomic organization of the 5' region of the human thyroglobulin gene - Moya_2000_Eur.J.Endocrinol_143_789 |
| Author(s) : Moya CM , Mendive FM , Rivolta CM , Vassart G , Targovnik HM |
| Ref : European Journal of Endocrinology , 143 :789 , 2000 |
| Abstract : Moya_2000_Eur.J.Endocrinol_143_789 |
| ESTHER : Moya_2000_Eur.J.Endocrinol_143_789 |
| PubMedSearch : Moya_2000_Eur.J.Endocrinol_143_789 |
| PubMedID: 11124863 |
| Gene_locus related to this paper: human-TG |