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| Title : The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism - Siffo_2023_Endocrine_80_47 |
| Author(s) : Siffo S , Gomes Pio M , Martinez EB , Lachlan K , Walker J , Weill J , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Endocrine , 80 :47 , 2023 |
| Abstract : Siffo_2023_Endocrine_80_47 |
| ESTHER : Siffo_2023_Endocrine_80_47 |
| PubMedSearch : Siffo_2023_Endocrine_80_47 |
| PubMedID: 36547798 |
| Title : The p.Cys1281Tyr variant in the hinge module\/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism - Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
| Author(s) : Gomes Pio M , Adrover E , Miras MB , Sobrero G , Molina MF , Scheps KG , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 572 :111948 , 2023 |
| Abstract : Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
| ESTHER : Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
| PubMedSearch : Gomes_2023_Mol.Cell.Endocrinol_572_111948 |
| PubMedID: 37164149 |
| Title : A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis - Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| Author(s) : Pio MG , Molina MF , Siffo S , Chiesa A , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 522 :111124 , 2021 |
| Abstract : Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| ESTHER : Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| PubMedSearch : Pio_2021_Mol.Cell.Endocrinol_522_111124 |
| PubMedID: 33321114 |
| Title : Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms - Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| Author(s) : Pio MG , Siffo S , Scheps KG , Molina MF , Adrover E , Abelleyro MM , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 534 :111359 , 2021 |
| Abstract : Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| ESTHER : Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| PubMedSearch : Pio_2021_Mol.Cell.Endocrinol_534_111359 |
| PubMedID: 34119605 |
| Title : Structure and genetic variants of thyroglobulin: Pathophysiological implications - Citterio_2021_Mol.Cell.Endocrinol_528_111227 |
| Author(s) : Citterio CE , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 528 :111227 , 2021 |
| Abstract : Citterio_2021_Mol.Cell.Endocrinol_528_111227 |
| ESTHER : Citterio_2021_Mol.Cell.Endocrinol_528_111227 |
| PubMedSearch : Citterio_2021_Mol.Cell.Endocrinol_528_111227 |
| PubMedID: 33689781 |
| Title : Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death - Zhang_2021_JCI.Insight_6_e148496 |
| Author(s) : Zhang X , Kellogg AP , Citterio CE , Zhang H , Larkin D , Morishita Y , Targovnik HM , Balbi VA , Arvan P |
| Ref : JCI Insight , 6 : , 2021 |
| Abstract : Zhang_2021_JCI.Insight_6_e148496 |
| ESTHER : Zhang_2021_JCI.Insight_6_e148496 |
| PubMedSearch : Zhang_2021_JCI.Insight_6_e148496 |
| PubMedID: 33914707 |
| Gene_locus related to this paper: human-TG |
| 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 : The role of thyroglobulin in thyroid hormonogenesis - Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| Author(s) : Citterio CE , Targovnik HM , Arvan P |
| Ref : Nat Rev Endocrinol , 15 :323 , 2019 |
| Abstract : Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| ESTHER : Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| PubMedSearch : Citterio_2019_Nat.Rev.Endocrinol_15_323 |
| PubMedID: 30886364 |
| Title : Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism - Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| Author(s) : Siffo S , Adrover E , Citterio CE , Miras MB , Balbi VA , Chiesa A , Weill J , Sobrero G , Gonzalez VG , Papendieck P , Martinez EB , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 473 :1 , 2018 |
| Abstract : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| ESTHER : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1 |
| PubMedID: 29275168 |
| Gene_locus related to this paper: human-TG |
| Title : Iodide handling disorders (NIS, TPO, TG, IYD) - Targovnik_2017_Best.Pract.Res.Clin.Endocrinol.Metab_31_195 |
| Author(s) : Targovnik HM , Citterio CE , Rivolta CM |
| Ref : Best Pract Res Clinical Endocrinology Metab , 31 :195 , 2017 |
| Abstract : Targovnik_2017_Best.Pract.Res.Clin.Endocrinol.Metab_31_195 |
| ESTHER : Targovnik_2017_Best.Pract.Res.Clin.Endocrinol.Metab_31_195 |
| PubMedSearch : Targovnik_2017_Best.Pract.Res.Clin.Endocrinol.Metab_31_195 |
| PubMedID: 28648508 |
| Title : Compound heterozygous DUOX2 gene mutations (c.2335-1G>C\/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis - Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| Author(s) : Belforte FS , Citterio CE , Testa G , Olcese MC , Sobrero G , Miras MB , Targovnik HM , Rivolta CM |
| Ref : Mol Cell Endocrinol , 419 :172 , 2016 |
| Abstract : Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| ESTHER : Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| PubMedSearch : Belforte_2016_Mol.Cell.Endocrinol_419_172 |
| PubMedID: 26506010 |
| Title : Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus system: a molecular model of functional expression - Belforte_2015_Mol.Cell.Endocrinol_404_9 |
| Author(s) : Belforte FS , Targovnik AM , Gonzalez-Lebrero RM , Osorio Larroche C , Citterio CE , Gonzalez-Sarmiento R , Miranda MV , Targovnik HM , Rivolta CM |
| Ref : Mol Cell Endocrinol , 404 :9 , 2015 |
| Abstract : Belforte_2015_Mol.Cell.Endocrinol_404_9 |
| ESTHER : Belforte_2015_Mol.Cell.Endocrinol_404_9 |
| PubMedSearch : Belforte_2015_Mol.Cell.Endocrinol_404_9 |
| PubMedID: 25576858 |
| Title : Novel compound heterozygous Thyroglobulin mutations c.745+1G>A\/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6 - Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| Author(s) : Citterio CE , Morales CM , Bouhours-Nouet N , Machiavelli GA , Bueno E , Gatelais F , Coutant R , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 404 :102 , 2015 |
| Abstract : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| ESTHER : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| PubMedSearch : Citterio_2015_Mol.Cell.Endocrinol_404_102 |
| PubMedID: 25633667 |
| Gene_locus related to this paper: human-TG |
| Title : Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism - |
| Author(s) : Targovnik HM |
| Ref : Endocrine , 45 :163 , 2014 |
| PubMedID: 24129411 |
| Gene_locus related to this paper: human-TG |
| Title : New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| Author(s) : Citterio CE , Machiavelli GA , Miras MB , Gruneiro-Papendieck L , Lachlan K , Sobrero G , Chiesa A , Walker J , Munoz L , Testa G , Belforte FS , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Mol Cell Endocrinol , 365 :277 , 2013 |
| Abstract : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| ESTHER : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_365_277 |
| PubMedID: 23164529 |
| Gene_locus related to this paper: human-TG |
| Title : Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_381_220 |
| Author(s) : Citterio CE , Rossetti LC , Souchon PF , Morales C , Thouvard-Viprey M , Salmon-Musial AS , Mauran PL , Doco-Fenzy M , Gonzalez-Sarmiento R , Rivolta CM , De Brasi CD , Targovnik HM |
| Ref : Mol Cell Endocrinol , 381 :220 , 2013 |
| Abstract : Citterio_2013_Mol.Cell.Endocrinol_381_220 |
| ESTHER : Citterio_2013_Mol.Cell.Endocrinol_381_220 |
| PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_381_220 |
| PubMedID: 23933148 |
| Gene_locus related to this paper: human-TG |
| 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 : Thyroglobulin gene mutations in congenital hypothyroidism - Targovnik_2011_Horm.Res.Paediatr_75_311 |
| Author(s) : Targovnik HM , Citterio CE , Rivolta CM |
| Ref : Horm Res Paediatr , 75 :311 , 2011 |
| Abstract : Targovnik_2011_Horm.Res.Paediatr_75_311 |
| ESTHER : Targovnik_2011_Horm.Res.Paediatr_75_311 |
| PubMedSearch : Targovnik_2011_Horm.Res.Paediatr_75_311 |
| PubMedID: 21372558 |
| Gene_locus related to this paper: human-TG |
| Title : A new compound heterozygous for c.886C>T\/c.2206C>T [p.R277X\/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism - |
| Author(s) : Citterio CE , Coutant R , Rouleau S , Miralles Garcia JM , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 74 :533 , 2011 |
| PubMedID: 21128992 |
| Gene_locus related to this paper: human-TG |
| Title : Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism - Chiesa_2010_Endocrine_38_377 |
| Author(s) : Chiesa A , Rivolta CM , Targovnik HM , Gruneiro-Papendieck L |
| Ref : Endocrine , 38 :377 , 2010 |
| Abstract : Chiesa_2010_Endocrine_38_377 |
| ESTHER : Chiesa_2010_Endocrine_38_377 |
| PubMedSearch : Chiesa_2010_Endocrine_38_377 |
| PubMedID: 20972728 |
| Title : New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter - Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
| Author(s) : Peteiro-Gonzalez D , Lee J , Rodriguez-Fontan J , Castro-Piedras I , Cameselle-Teijeiro J , Beiras A , Bravo SB , Alvarez CV , Hardy DM , Targovnik HM , Arvan P , Lado-Abeal J |
| Ref : J Clinical Endocrinology Metab , 95 :3522 , 2010 |
| Abstract : Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
| ESTHER : Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
| PubMedSearch : Peteiro-Gonzalez_2010_J.Clin.Endocrinol.Metab_95_3522 |
| PubMedID: 20410234 |
| Gene_locus related to this paper: human-TG |
| Title : Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations - Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
| Author(s) : Targovnik HM , Esperante SA , Rivolta CM |
| Ref : Mol Cell Endocrinol , 322 :44 , 2010 |
| Abstract : Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
| ESTHER : Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
| PubMedSearch : Targovnik_2010_Mol.Cell.Endocrinol_322_44 |
| PubMedID: 20093166 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene - Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| Author(s) : Targovnik HM , Souchon PF , Machiavelli GA , Salmon-Musial AS , Mauran PL , Sulmont V , Doco-Fenzy M , Rivolta CM |
| Ref : Clinical Endocrinology (Oxf) , 72 :716 , 2010 |
| Abstract : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| ESTHER : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716 |
| PubMedID: 20447071 |
| 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 : Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis - Caputo_2010_Endocrine_37_389 |
| Author(s) : Caputo M , Rivolta CM , Mories T , Corrales JJ , Galindo P , Gonzalez-Sarmiento R , Targovnik HM , Miralles-Garcia JM |
| Ref : Endocrine , 37 :389 , 2010 |
| Abstract : Caputo_2010_Endocrine_37_389 |
| ESTHER : Caputo_2010_Endocrine_37_389 |
| PubMedSearch : Caputo_2010_Endocrine_37_389 |
| PubMedID: 20960158 |
| Gene_locus related to this paper: human-TG |
| Title : Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 - Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| Author(s) : Machiavelli GA , Caputo M , Rivolta CM , Olcese MC , Gruneiro-Papendieck L , Chiesa A , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 72 :112 , 2010 |
| Abstract : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| ESTHER : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedID: 19438905 |
| Gene_locus related to this paper: human-TG |
| Title : The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation - Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| Author(s) : Pardo V , Vono-Toniolo J , Rubio IG , Knobel M , Possato RF , Targovnik HM , Kopp P , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 94 :2938 , 2009 |
| Abstract : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| ESTHER : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| PubMedSearch : Pardo_2009_J.Clin.Endocrinol.Metab_94_2938 |
| PubMedID: 19509106 |
| Gene_locus related to this paper: human-TG |
| Title : Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations - Pardo_2008_Thyroid_18_783 |
| Author(s) : Pardo V , Rubio IG , Knobel M , Aguiar-Oliveira MH , Santos MM , Gomes SA , Oliveira CR , Targovnik HM , Medeiros-Neto G |
| Ref : Thyroid , 18 :783 , 2008 |
| Abstract : Pardo_2008_Thyroid_18_783 |
| ESTHER : Pardo_2008_Thyroid_18_783 |
| PubMedSearch : Pardo_2008_Thyroid_18_783 |
| PubMedID: 18631008 |
| Gene_locus related to this paper: human-TG |
| Title : Recurrence of the p.R277X\/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms - Caputo_2007_J.Endocrinol_195_167 |
| Author(s) : Caputo M , Rivolta CM , Gutnisky VJ , Gruneiro-Papendieck L , Chiesa A , Medeiros-Neto G , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : J Endocrinol , 195 :167 , 2007 |
| Abstract : Caputo_2007_J.Endocrinol_195_167 |
| ESTHER : Caputo_2007_J.Endocrinol_195_167 |
| PubMedSearch : Caputo_2007_J.Endocrinol_195_167 |
| PubMedID: 17911408 |
| Gene_locus related to this paper: human-TG |
| Title : Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene - Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| Author(s) : Caputo M , Rivolta CM , Esperante SA , Gruneiro-Papendieck L , Chiesa A , Pellizas CG , Gonzalez-Sarmiento R , Targovnik HM |
| Ref : Clinical Endocrinology (Oxf) , 67 :351 , 2007 |
| Abstract : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| ESTHER : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedSearch : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedID: 17532758 |
| Gene_locus related to this paper: human-TG |
| Title : Molecular advances in thyroglobulin disorders - Rivolta_2006_Clin.Chim.Acta_374_8 |
| Author(s) : Rivolta CM , Targovnik HM |
| Ref : Clinica Chimica Acta , 374 :8 , 2006 |
| Abstract : Rivolta_2006_Clin.Chim.Acta_374_8 |
| ESTHER : Rivolta_2006_Clin.Chim.Acta_374_8 |
| PubMedSearch : Rivolta_2006_Clin.Chim.Acta_374_8 |
| PubMedID: 16870170 |
| 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 : Naturally occurring mutations in the thyroglobulin gene - Vono-Toniolo_2005_Thyroid_15_1021 |
| Author(s) : Vono-Toniolo J , Rivolta CM , Targovnik HM , Medeiros-Neto G , Kopp P |
| Ref : Thyroid , 15 :1021 , 2005 |
| Abstract : Vono-Toniolo_2005_Thyroid_15_1021 |
| ESTHER : Vono-Toniolo_2005_Thyroid_15_1021 |
| PubMedSearch : Vono-Toniolo_2005_Thyroid_15_1021 |
| PubMedID: 16187910 |
| Title : Nonsense-associated alternative splicing of the human thyroglobulin gene - Mendive_2005_Mol.Diagn_9_143 |
| Author(s) : Mendive FM , Rivolta CM , Gonzalez-Sarmiento R , Medeiros-Neto G , Targovnik HM |
| Ref : Mol Diagn , 9 :143 , 2005 |
| Abstract : Mendive_2005_Mol.Diagn_9_143 |
| ESTHER : Mendive_2005_Mol.Diagn_9_143 |
| PubMedSearch : Mendive_2005_Mol.Diagn_9_143 |
| PubMedID: 16271015 |
| 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 : Up to date with human thyroglobulin - van de Graaf_2001_J.Endocrinol_170_307 |
| Author(s) : van de Graaf SA , Ris-Stalpers C , Pauws E , Mendive FM , Targovnik HM , de Vijlder JJ |
| Ref : J Endocrinol , 170 :307 , 2001 |
| Abstract : van de Graaf_2001_J.Endocrinol_170_307 |
| ESTHER : van de Graaf_2001_J.Endocrinol_170_307 |
| PubMedSearch : van de Graaf_2001_J.Endocrinol_170_307 |
| PubMedID: 11479128 |
| 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 |
| Title : Genomic organization of the 3' region of the human thyroglobulin gene - Mendive_1999_Thyroid_9_903 |
| Author(s) : Mendive FM , Rivolta CM , Vassart G , Targovnik HM |
| Ref : Thyroid , 9 :903 , 1999 |
| Abstract : Mendive_1999_Thyroid_9_903 |
| ESTHER : Mendive_1999_Thyroid_9_903 |
| PubMedSearch : Mendive_1999_Thyroid_9_903 |
| PubMedID: 10524569 |
| Gene_locus related to this paper: human-TG |
| Title : A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism - van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
| Author(s) : van de Graaf SA , Ris-Stalpers C , Veenboer GJ , Cammenga M , Santos C , Targovnik HM , de Vijlder JJ , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 84 :2537 , 1999 |
| Abstract : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
| ESTHER : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
| PubMedSearch : van de Graaf_1999_J.Clin.Endocrinol.Metab_84_2537 |
| PubMedID: 10404833 |
| Gene_locus related to this paper: human-TG |
| Title : Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism - Targovnik_1998_Thyroid_8_291 |
| Author(s) : Targovnik HM , Frechtel GD , Mendive FM , Vono J , Cochaux P , Vassart G , Medeiros-Neto G |
| Ref : Thyroid , 8 :291 , 1998 |
| Abstract : Targovnik_1998_Thyroid_8_291 |
| ESTHER : Targovnik_1998_Thyroid_8_291 |
| PubMedSearch : Targovnik_1998_Thyroid_8_291 |
| PubMedID: 9588493 |
| Title : Identification of a new thyroglobulin variant: a guanine-to-adenine transition resulting in the substitution of arginine 2510 by glutamine - Mendive_1997_Thyroid_7_587 |
| Author(s) : Mendive FM , Rossetti LC , Vassart G , Targovnik HM |
| Ref : Thyroid , 7 :587 , 1997 |
| Abstract : Mendive_1997_Thyroid_7_587 |
| ESTHER : Mendive_1997_Thyroid_7_587 |
| PubMedSearch : Mendive_1997_Thyroid_7_587 |
| PubMedID: 9292947 |
| Title : Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones - Medeiros-Neto_1996_J.Clin.Invest_98_2838 |
| Author(s) : Medeiros-Neto G , Kim PS , Yoo SE , Vono J , Targovnik HM , Camargo R , Hossain SA , Arvan P |
| Ref : J Clinical Investigation , 98 :2838 , 1996 |
| Abstract : Medeiros-Neto_1996_J.Clin.Invest_98_2838 |
| ESTHER : Medeiros-Neto_1996_J.Clin.Invest_98_2838 |
| PubMedSearch : Medeiros-Neto_1996_J.Clin.Invest_98_2838 |
| PubMedID: 8981932 |
| 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 : Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism - Medeiros-Neto_1993_Endocr.Rev_14_165 |
| Author(s) : Medeiros-Neto G , Targovnik HM , Vassart G |
| Ref : Endocr Rev , 14 :165 , 1993 |
| Abstract : Medeiros-Neto_1993_Endocr.Rev_14_165 |
| ESTHER : Medeiros-Neto_1993_Endocr.Rev_14_165 |
| PubMedSearch : Medeiros-Neto_1993_Endocr.Rev_14_165 |
| PubMedID: 8325250 |
| Title : Defective organification of iodide causing hereditary goitrous hypothyroidism - Medeiros-Neto_1993_Thyroid_3_143 |
| Author(s) : Medeiros-Neto GA , Billerbeck AE , Wajchenberg BL , Targovnik HM |
| Ref : Thyroid , 3 :143 , 1993 |
| Abstract : Medeiros-Neto_1993_Thyroid_3_143 |
| ESTHER : Medeiros-Neto_1993_Thyroid_3_143 |
| PubMedSearch : Medeiros-Neto_1993_Thyroid_3_143 |
| PubMedID: 8369653 |
| 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 : Identification of a minor Tg mRNA transcript in RNA from normal and goitrous thyroids - Targovnik_1992_Mol.Cell.Endocrinol_84_R23 |
| Author(s) : Targovnik HM , Cochaux P , Corach D , Vassart G |
| Ref : Mol Cell Endocrinol , 84 :R23 , 1992 |
| Abstract : Targovnik_1992_Mol.Cell.Endocrinol_84_R23 |
| ESTHER : Targovnik_1992_Mol.Cell.Endocrinol_84_R23 |
| PubMedSearch : Targovnik_1992_Mol.Cell.Endocrinol_84_R23 |
| PubMedID: 1639210 |
| 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 : A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism - Ieiri_1991_J.Clin.Invest_88_1901 |
| Author(s) : Ieiri T , Cochaux P , Targovnik HM , Suzuki M , Shimoda S , Perret J , Vassart G |
| Ref : J Clinical Investigation , 88 :1901 , 1991 |
| Abstract : Ieiri_1991_J.Clin.Invest_88_1901 |
| ESTHER : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedSearch : Ieiri_1991_J.Clin.Invest_88_1901 |
| PubMedID: 1752952 |
| 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 : Structural organization of the 5' region of the human thyroglobulin gene - Targovnik_1984_Eur.J.Biochem_141_271 |
| Author(s) : Targovnik HM , Pohl V , Christophe D , Cabrer B , Brocas H , Vassart G |
| Ref : European Journal of Biochemistry , 141 :271 , 1984 |
| Abstract : Targovnik_1984_Eur.J.Biochem_141_271 |
| ESTHER : Targovnik_1984_Eur.J.Biochem_141_271 |
| PubMedSearch : Targovnik_1984_Eur.J.Biochem_141_271 |
| PubMedID: 6329751 |
| Gene_locus related to this paper: human-TG |