Detalhe da pesquisa
1.
Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review.
Mol Cell Endocrinol
; 558: 111748, 2022 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35995307
2.
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Endocrine
; 77(1): 86-101, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35507000
3.
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.
Mol Cell Endocrinol
; 534: 111359, 2021 08 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34119605
4.
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.
Mol Cell Endocrinol
; 522: 111124, 2021 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33321114
5.
p.L571P in the linker domain of rat thyroglobulin causes intracellular retention.
Mol Cell Endocrinol
; 505: 110719, 2020 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31972331