| 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 : |
| PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112 |
| PubMedID: 19438905 |
| 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 : |
| PubMedSearch : Caputo_2010_Endocrine_37_389 |
| PubMedID: 20960158 |
| Gene_locus related to this paper: human-TG |
| Title : Consistency of neuropsychiatric syndromes across dementias: results from the European Alzheimer Disease Consortium. Part II - Aalten_2008_Dement.Geriatr.Cogn.Disord_25_1 |
| Author(s) : Aalten P , Verhey FR , Boziki M , Brugnolo A , Bullock R , Byrne EJ , Camus V , Caputo M , Collins D , De Deyn PP , Elina K , Frisoni G , Holmes C , Hurt C , Marriott A , Mecocci P , Nobili F , Ousset PJ , Reynish E , Salmon E , Tsolaki M , Vellas B , Robert PH |
| Ref : Dementia & Geriatric Cognitive Disorders , 25 :1 , 2008 |
| Abstract : |
| PubMedSearch : Aalten_2008_Dement.Geriatr.Cogn.Disord_25_1 |
| PubMedID: 18025783 |
| 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 : |
| 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 : |
| PubMedSearch : Caputo_2007_Clin.Endocrinol.(Oxf)_67_351 |
| PubMedID: 17532758 |
| Gene_locus related to this paper: human-TG |