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| 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 : Mutations of the thyroglobulin gene and its relevance to thyroid disorders - Rubio_2009_Curr.Opin.Endocrinol.Diabetes.Obes_16_373 |
| Author(s) : Rubio IG , Medeiros-Neto G |
| Ref : Curr Opin Endocrinol Diabetes Obes , 16 :373 , 2009 |
| Abstract : Rubio_2009_Curr.Opin.Endocrinol.Diabetes.Obes_16_373 |
| ESTHER : Rubio_2009_Curr.Opin.Endocrinol.Diabetes.Obes_16_373 |
| PubMedSearch : Rubio_2009_Curr.Opin.Endocrinol.Diabetes.Obes_16_373 |
| PubMedID: 19633549 |
| Title : A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation - Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
| Author(s) : Rubio IG , Galrao AL , Pardo V , Knobel M , Possato RF , Camargo RR , Ferreira MA , Kanamura CT , Gomes SA , Medeiros-Neto G |
| Ref : Arq Bras Endocrinol Metabol , 52 :1337 , 2008 |
| Abstract : Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
| ESTHER : Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
| PubMedSearch : Rubio_2008_Arq.Bras.Endocrinol.Metabol_52_1337 |
| PubMedID: 19169491 |
| 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 : 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 : 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 : 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 : Prenatal diagnosis and treatment of dyshormonogenetic fetal goiter due to defective thyroglobulin synthesis - |
| Author(s) : Medeiros-Neto G , Bunduki V , Tomimori E , Gomes S , Knobel M , Martin RT , Zugaib M |
| Ref : J Clinical Endocrinology Metab , 82 :4239 , 1997 |
| PubMedID: 9398747 |
| 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 : The effect of oral administration of iodine to patients with goiter and hypothyroidism due to defective synthesis of thyroglobulin - Vono_1996_Thyroid_6_11 |
| Author(s) : Vono J , Lima N , Knobel M , Medeiros-Neto G |
| Ref : Thyroid , 6 :11 , 1996 |
| Abstract : Vono_1996_Thyroid_6_11 |
| ESTHER : Vono_1996_Thyroid_6_11 |
| PubMedSearch : Vono_1996_Thyroid_6_11 |
| PubMedID: 8777378 |
| 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 : 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 : 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 : Hyposialylated thyroglobulin in a patient with congenital goiter and hypothyroidism - Grollman_1992_J.Clin.Endocrinol.Metab_74_43 |
| Author(s) : Grollman EF , Doi SQ , Weiss P , Ashwell G , Wajchenberg BL , Medeiros-Neto G |
| Ref : J Clinical Endocrinology Metab , 74 :43 , 1992 |
| Abstract : Grollman_1992_J.Clin.Endocrinol.Metab_74_43 |
| ESTHER : Grollman_1992_J.Clin.Endocrinol.Metab_74_43 |
| PubMedSearch : Grollman_1992_J.Clin.Endocrinol.Metab_74_43 |
| PubMedID: 1727828 |
| 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 : 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 |