| Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19. Targovnik H.M., Edouard T., Varela V., Tauber M., Citterio C.E., Gonzalez-Sarmiento R., Rivolta C.M.
Mol. Cell. Endocrinol. 348:313-321(2012) · Mapped (9) |
| Thyroglobulin gene mutations in congenital hypothyroidism. Targovnik H.M., Citterio C.E., Rivolta C.M.
Horm Res Paediatr 75:311-321(2011) · Mapped (9) |
| Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. Chiesa A., Rivolta C.M., Targovnik H.M., Gruneiro-Papendieck L.
Endocrine 38:377-385(2010) · Mapped (9) |
| Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study. Varela V., Rizzo L., Domene S., Bruno O.D., Tellechea M.L., Rivolta C.M., Targovnik H.M.
Endocrine 38:320-327(2010) · Mapped (9) |
| Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis. Caputo M., Rivolta C.M., Mories T., Corrales J.J., Galindo P., Gonzalez-Sarmiento R., Targovnik H.M., Miralles-Garcia J.M.
Endocrine 37:389-395(2010) · Mapped (9) |
| The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. Pardo V., Vono-Toniolo J., Rubio I.G., Knobel M., Possato R.F., Targovnik H.M., Kopp P., Medeiros-Neto G.
J. Clin. Endocrinol. Metab. 94:2938-2944(2009) · UniProtKB (1) · Mapped (8) |
| 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 G.A., Caputo M., Rivolta C.M., Olcese M.C., Gruneiro-Papendieck L., Chiesa A., Gonzalez-Sarmiento R., Targovnik H.M.
Clin. Endocrinol. (Oxf) 72:112-121(2010) · Mapped (9) |
| Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene. Rivolta C.M., Olcese M.C., Belforte F.S., Chiesa A., Gruneiro-Papendieck L., Iorcansky S., Herzovich V., Cassorla F., Gauna A., Gonzalez-Sarmiento R. et al.
Mol. Cell. Probes 23:148-153(2009) · UniProtKB (1) · Mapped (3) |
| Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies. Esperante S.A., Rivolta C.M., Caputo M., Gonzalez-Sarmiento R., Targovnik H.M.
Mol. Cell. Probes 22:281-286(2008) · Mapped (6) |
| Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. Pardo V., Rubio I.G., Knobel M., Aguiar-Oliveira M.H., Santos M.M., Gomes S.A., Oliveira C.R., Targovnik H.M., Medeiros-Neto G.
Thyroid 18:783-786(2008) · Mapped (9) |
| 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 M., Rivolta C.M., Gutnisky V.J., Gruneiro-Papendieck L., Chiesa A., Medeiros-Neto G., Gonzalez-Sarmiento R., Targovnik H.M.
J. Endocrinol. 195:167-177(2007) · Mapped (9) |
| No evidence of association of CTLA-4 -318 C/T, 159 C/T, 3' STR and SUMO4 163 AG polymorphism with autoimmune diabetes. Caputo M., Cerrone G.E., Mazza C., Cedola N., Targovnik H.M., Gustavo D.F.
Immunol. Invest. 36:259-270(2007) · Mapped (7) |
| Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. Caputo M., Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Pellizas C.G., Gonzalez-Sarmiento R., Targovnik H.M.
Clin. Endocrinol. (Oxf.) 67:351-357(2007) · UniProtKB (1) · Mapped (8) |
| A simple method for the identification of three major haplotypes of the beta2AR. Cerrone G.E., Perez M.S., Caputo M., Targovnik H.M., Frechtel G.D.
Mol. Cell. Probes 21:222-225(2007) · Mapped (2) |
| Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A-->C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. Varela V., Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Targovnik H.M.
Clin. Chem. 52:182-191(2006) · UniProtKB (1) · Mapped (1) |
| Nonsense-associated alternative splicing of the human thyroglobulin gene. Mendive F.M., Rivolta C.M., Gonzalez-Sarmiento R., Medeiros-Neto G., Targovnik H.M.
Mol. Diagn. 9:143-149(2005) · Mapped (9) |
| Cytotoxic T lymphocyte antigen 4 heterozygous codon 49 A/G dimorphism is associated to latent autoimmune diabetes in adults (LADA). Caputo M., Cerrone G.E., Lopez A.P., Villalba A., Krochik G.A., Cedola F.N., Targovnik H.M., Frechtel G.D.
Autoimmunity 38:277-281(2005) · Mapped (6) |
| 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 C.M., Moya C.M., Gutnisky V.J., Varela V., Miralles-Garcia J.M., Gonzalez-Sarmiento R., Targovnik H.M.
J. Clin. Endocrinol. Metab. 90:3766-3770(2005) · Mapped (9) |
| Variable number of tandem repeats of the insulin gene determines susceptibility to latent autoimmune diabetes in adults. Cerrone G.E., Caputo M., Lopez A.P., Gonzalez C., Massa C., Cedola N., Targovnik H.M., Frechtel G.D.
Mol. Diagn. 8:43-49(2004) · Mapped (3) |
| Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Rivolta C.M., Esperante S.A., Gruneiro-Papendieck L., Chiesa A., Moya C.M., Domene S., Varela V., Targovnik H.M.
Hum. Mutat. 22:259-259(2003) · UniProtKB (1) |
| Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene. Moya C.M., Varela V., Rivolta C.M., Mendive F.M., Targovnik H.M.
Thyroid 13:319-323(2003) · Mapped (9) |
| Genomic organization of the human thyroglobulin gene: the complete intron-exon structure. Mendive F.M., Rivolta C.M., Moya C.M., Vassart G., Targovnik H.M.
Eur. J. Endocrinol. 145:485-496(2001) · UniProtKB (1) |
| Genomic organization of the 5' region of the human thyroglobulin gene. Moya C.M., Mendive F.M., Rivolta C.M., Vassart G., Targovnik H.M.
Eur. J. Endocrinol. 143:789-798(2000) · UniProtKB (2) |
| Genomic organization of the 3' region of the human thyroglobulin gene. Mendive F.M., Rivolta C.M., Vassart G., Targovnik H.M.
Thyroid 9:903-912(1999) · UniProtKB (1) |
| An unusually long poly(purine)-poly(pyrimidine) sequence is located upstream from the human thyroglobulin gene. Christophe D., Cabrer B., Bacolla A., Targovnik H.M., Pohl V., Vassart G.
Nucleic Acids Res. 13:5127-5144(1985) · UniProtKB (1) |
