Chiesa A

References (7)

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 :
PubMedSearch : Pio_2021_Mol.Cell.Endocrinol_522_111124
PubMedID: 33321114

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 :
PubMedSearch : Siffo_2018_Mol.Cell.Endocrinol_473_1
PubMedID: 29275168
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 : 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 :
PubMedSearch : Chiesa_2010_Endocrine_38_377
PubMedID: 20972728

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

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