| 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 : 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 : 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 : 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 : 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 |
| Title : Hereditary congenital goitre with thyroglobulin deficiency causing hypothyroidism - Medeiros-Neto_1984_Clin.Endocrinol.(Oxf)_20_631 |
| Author(s) : Medeiros-Neto GA , Knobel M , Cavaliere H , Simonetti J , Mattar E |
| Ref : Clinical Endocrinology (Oxf) , 20 :631 , 1984 |
| Abstract : Medeiros-Neto_1984_Clin.Endocrinol.(Oxf)_20_631 |
| ESTHER : Medeiros-Neto_1984_Clin.Endocrinol.(Oxf)_20_631 |
| PubMedSearch : Medeiros-Neto_1984_Clin.Endocrinol.(Oxf)_20_631 |
| PubMedID: 6467633 |