Gonzalez-Sarmiento R

References (17)

Title : The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism - Siffo_2023_Endocrine_80_47
Author(s) : Siffo S , Gomes Pio M , Martinez EB , Lachlan K , Walker J , Weill J , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM
Ref : Endocrine , 80 :47 , 2023
Abstract :
PubMedSearch : Siffo_2023_Endocrine_80_47
PubMedID: 36547798

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 : Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus system: a molecular model of functional expression - Belforte_2015_Mol.Cell.Endocrinol_404_9
Author(s) : Belforte FS , Targovnik AM , Gonzalez-Lebrero RM , Osorio Larroche C , Citterio CE , Gonzalez-Sarmiento R , Miranda MV , Targovnik HM , Rivolta CM
Ref : Mol Cell Endocrinol , 404 :9 , 2015
Abstract :
PubMedSearch : Belforte_2015_Mol.Cell.Endocrinol_404_9
PubMedID: 25576858

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 : Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism - Citterio_2013_Mol.Cell.Endocrinol_381_220
Author(s) : Citterio CE , Rossetti LC , Souchon PF , Morales C , Thouvard-Viprey M , Salmon-Musial AS , Mauran PL , Doco-Fenzy M , Gonzalez-Sarmiento R , Rivolta CM , De Brasi CD , Targovnik HM
Ref : Mol Cell Endocrinol , 381 :220 , 2013
Abstract :
PubMedSearch : Citterio_2013_Mol.Cell.Endocrinol_381_220
PubMedID: 23933148
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 : Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19 - Targovnik_2012_Mol.Cell.Endocrinol_348_313
Author(s) : Targovnik HM , Edouard T , Varela V , Tauber M , Citterio CE , Gonzalez-Sarmiento R , Rivolta CM
Ref : Mol Cell Endocrinol , 348 :313 , 2012
Abstract :
PubMedSearch : Targovnik_2012_Mol.Cell.Endocrinol_348_313
PubMedID: 21958696
Gene_locus related to this paper: human-TG

Title : A new compound heterozygous for c.886C>T\/c.2206C>T [p.R277X\/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism -
Author(s) : Citterio CE , Coutant R , Rouleau S , Miralles Garcia JM , Gonzalez-Sarmiento R , Rivolta CM , Targovnik HM
Ref : Clinical Endocrinology (Oxf) , 74 :533 , 2011
PubMedID: 21128992
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 : 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 : 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

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 :
PubMedSearch : Mendive_2005_Mol.Diagn_9_143
PubMedID: 16271015

Title : A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation - Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766
Author(s) : Rivolta CM , Moya CM , Gutnisky VJ , Varela V , Miralles-Garcia JM , Gonzalez-Sarmiento R , Targovnik HM
Ref : J Clinical Endocrinology Metab , 90 :3766 , 2005
Abstract :
PubMedSearch : Rivolta_2005_J.Clin.Endocrinol.Metab_90_3766
PubMedID: 15769978
Gene_locus related to this paper: human-TG

Title : Monoallelic deletion in the 5' region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter - Gonzalez-Sarmiento_2001_Thyroid_11_789
Author(s) : Gonzalez-Sarmiento R , Corral J , Mories MT , Corrales JJ , Miguel-Velado E , Miralles-Garcia JM
Ref : Thyroid , 11 :789 , 2001
Abstract :
PubMedSearch : Gonzalez-Sarmiento_2001_Thyroid_11_789
PubMedID: 11525274
Gene_locus related to this paper: human-TG

Title : Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter - Perez-Centeno_1996_Thyroid_6_423
Author(s) : Perez-Centeno C , Gonzalez-Sarmiento R , Mories MT , Corrales JJ , Miralles-Garcia JM
Ref : Thyroid , 6 :423 , 1996
Abstract :
PubMedSearch : Perez-Centeno_1996_Thyroid_6_423
PubMedID: 8936666
Gene_locus related to this paper: human-TG

Title : Thyroglobulin gene point mutation associated with non-endemic simple goitre - Corral_1993_Lancet_341_462
Author(s) : Corral J , Martin C , Perez R , Sanchez I , Mories MT , San Millan JL , Miralles JM , Gonzalez-Sarmiento R
Ref : Lancet , 341 :462 , 1993
Abstract :
PubMedSearch : Corral_1993_Lancet_341_462
PubMedID: 8094490
Gene_locus related to this paper: human-TG