Gomes Pio, Mauricio

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-9 de 9

Artículo 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

Gomes Pio, Mauricio ; Molina, Maricel Fernanda ; Siffo, Sofía ; Chiesa, Ana Elena ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2021-02)
Evento Analysis of novel thyroid peroxidase gene variants from the gnomad database using in silico bioinformatics algorithms and literature review

Molina, Maricel Fernanda ; Gomes Pio, Mauricio ; Scheps, Karen ; Adrover, Ezequiela ; Abelleyro, Miguel Martin ; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Fundación Revista Medicina, 2022)
Artículo Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms

Gomes Pio, Mauricio ; Siffo, Sofía ; Scheps, Karen ; Molina, Maricel Fernanda ; Adrover, Ezequiela ; Abelleyro, Miguel Martin ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2021-08)
Artículo Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

Molina, Maricel Fernanda ; Papendieck, Patricia; Sobrero, Gabriela Maria; Balbi, Viviana A.; Belforte, Fiorella Sabrina ; Martínez, Elena Bueno; Adrover, Ezequiela ; Olcese, María Cecilia; Chiesa, Ana Elena ; Miras, Mirta Beatriz; González, Verónica G.; Gomes Pio, Mauricio ; González Sarmiento, Rogelio; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Springer, 2022-06)
Evento New algorythm for the characterization of novel variants in the thyroglobulin gene: integration of in silico tools and expression essays

Gomes Pio, Mauricio ; Molina, Maricel Fernanda ; Adrover, Ezequiela ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Fundación Revista Medicina, 2022)
Artículo p.L571P in the linker domain of rat thyroglobulin causes intracellular retention

Citterio, Cintia Eliana ; Siffo, Sofía ; Moya, Christian M.; Gomes Pio, Mauricio ; Molina, Maricel Fernanda ; Scheps, Karen ; Arvan, Peter; Rey, Osvaldo ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2020-04-05)
Evento Systematic analysis of thyroperoxidase variations in patients with congenital hypothyroidism

Molina, Maricel Fernanda ; Adrover, Ezequiela ; Olcese, María Cecilia; Gomes Pio, Mauricio ; Siffo, Sofía ; Miras, Mirta Beatriz; Chiesa, Ana Elena ; Gonzalez Sarmiento, Rogelio; Targovnik, Hector Manuel ; Rivolta, Carina Marcela (Fundación Revista Medicina, 2020)
Artículo The p.Cys1281Tyr variant in the hinge module/flap region of thyroglobulin causes intracellular transport disorder and congenital hypothyroidism

Gomes Pio, Mauricio ; Adrover, Ezequiela ; Miras, Mirta Beatriz; Sobrero, Gabriela Maria; Molina, Maricel Fernanda ; Scheps, Karen ; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Elsevier Ireland, 2023-07-09)
Artículo The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

Siffo, Sofía ; Gomes Pio, Mauricio ; Bueno Martínez, Elena; Lachlan, Katherine; Walker, Joanna; Weill, Jacques; Gonzalez-sarmiento, Rogelio; Rivolta, Carina Marcela ; Targovnik, Hector Manuel (Springer, 2023-12-22)

Mostrando ítems 1-9 de 9