Machiavelli GA

References (4)

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 :
PubMedSearch : Citterio_2015_Mol.Cell.Endocrinol_404_102
PubMedID: 25633667
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 :
PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_365_277
PubMedID: 23164529
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 :
PubMedSearch : Machiavelli_2010_Clin.Endocrinol.(Oxf)_72_112
PubMedID: 19438905
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 :
PubMedSearch : Targovnik_2010_Clin.Endocrinol.(Oxf)_72_716
PubMedID: 20447071
Gene_locus related to this paper: human-TG