Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P
Published in Endocrine Connections (01.05.2019)
Published in Endocrine Connections (01.05.2019)
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Journal Article
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 B., Sobrero, Gabriela, Molina, Maricel F., Scheps, Karen G., Rivolta, Carina M., Targovnik, Héctor M.
Published in Molecular and cellular endocrinology (15.07.2023)
Published in Molecular and cellular endocrinology (15.07.2023)
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Journal Article
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism
Siffo, Sofia, Adrover, Ezequiela, Citterio, Cintia E., Miras, Mirta B., Balbi, Viviana A., Chiesa, Ana, Weill, Jacques, Sobrero, Gabriela, González, Verónica G., Papendieck, Patricia, Martinez, Elena Bueno, Gonzalez-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.
Published in Molecular and cellular endocrinology (15.09.2018)
Published in Molecular and cellular endocrinology (15.09.2018)
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Journal Article
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis
Molina, Maricel F., Papendieck, Patricia, Sobrero, Gabriela, Balbi, Viviana A., Belforte, Fiorella S., Martínez, Elena Bueno, Adrover, Ezequiela, Olcese, María C., Chiesa, Ana, Miras, Mirta B., González, Verónica G., Pio, Mauricio Gomes, González-Sarmiento, Rogelio, Targovnik, Héctor M., Rivolta, Carina M.
Published in Endocrine (01.06.2022)
Published in Endocrine (01.06.2022)
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Journal Article
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
Madeira, Joao LO, Nishi, Mirian Y, Nakaguma, Marilena, Benedetti, Anna F, Biscotto, Isabela Peixoto, Fernandes, Thamiris, Pequeno, Thiago, Figueiredo, Thalita, Franca, Marcela M, Correa, Fernanda A, Otto, Aline P, Abrão, Milena, Miras, Mirta B, Santos, Silvana, Jorge, Alexander AL, Costalonga, Everlayny F, Mendonca, Berenice B, Arnhold, Ivo JP, Carvalho, Luciani R
Published in Clinical endocrinology (Oxford) (01.12.2017)
Published in Clinical endocrinology (Oxford) (01.12.2017)
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Journal Article
Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis
Belforte, Fiorella S., Citterio, Cintia E., Testa, Graciela, Olcese, María Cecilia, Sobrero, Gabriela, Miras, Mirta B., Targovnik, Héctor M., Rivolta, Carina M.
Published in Molecular and cellular endocrinology (05.01.2016)
Published in Molecular and cellular endocrinology (05.01.2016)
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Journal Article
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene
Belforte, Fiorella S., Miras, Mirta B., Olcese, María C., Sobrero, Gabriela, Testa, Graciela, Muñoz, Liliana, Gruñeiro-Papendieck, Laura, Chiesa, Ana, González-Sarmiento, Rogelio, Targovnik, Héctor M., Rivolta, Carina M.
Published in Clinical endocrinology (Oxford) (01.04.2012)
Published in Clinical endocrinology (Oxford) (01.04.2012)
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Journal Article
New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism
Citterio, Cintia E., Machiavelli, Gloria A., Miras, Mirta B., Gruñeiro-Papendieck, Laura, Lachlan, Katherine, Sobrero, Gabriela, Chiesa, Ana, Walker, Joanna, Muñoz, Liliana, Testa, Graciela, Belforte, Fiorella S., González-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.
Published in Molecular and cellular endocrinology (30.01.2013)
Published in Molecular and cellular endocrinology (30.01.2013)
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Journal Article
Statement of Argentine pediatric endocrinologists on growth hormone interchangeability
Alonso, Guillermo, Balbi, Viviana, Bazán de Casella, Cristina, Belgorosky, Alicia, Bergadá, Ignacio, Brunetto, Oscar, Cassinelli, Hamilton, Ciaccio, Marta, Keselman, Ana, Miras, Mirta B, Morín, Analía
Published in Archivos argentinos de pediatría (01.08.2019)
Published in Archivos argentinos de pediatría (01.08.2019)
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Journal Article
Growth hormone treatment in children with idiopathic short stature: correlation of growth response with peripheral thyroid hormone action
Susperreguy, Sebastián, Muñoz, Liliana, Tkalenko, Natalia Y., Mascanfroni, Ivan D., Alamino, Vanina A., Montesinos, María M., Masini-Repiso, Ana M., Miras, Mirta B., Pellizas, Claudia G.
Published in Clinical endocrinology (Oxford) (01.03.2011)
Published in Clinical endocrinology (Oxford) (01.03.2011)
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Journal Article
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP 1 alterations with three novel mutations
Madeira, Joao LO, Nishi, Mirian Y, Nakaguma, Marilena, Benedetti, Anna F, Biscotto, Isabela Peixoto, Fernandes, Thamiris, Pequeno, Thiago, Figueiredo, Thalita, Franca, Marcela M, Correa, Fernanda A, Otto, Aline P, Abrão, Milena, Miras, Mirta B, Santos, Silvana, Jorge, Alexander AL, Costalonga, Everlayny F, Mendonca, Berenice B, Arnhold, Ivo JP, Carvalho, Luciani R
Published in Clinical endocrinology (Oxford) (01.12.2017)
Published in Clinical endocrinology (Oxford) (01.12.2017)
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Journal Article
Growth hormone treatment in children with idiopathic short stature: correlation of growth response with peripheral thyroid hormone action: GH effect on peripheral TH action in ISS
Susperreguy, Sebastián, Muñoz, Liliana, Tkalenko, Natalia Y., Mascanfroni, Ivan D., Alamino, Vanina A., Montesinos, María M., Masini-Repiso, Ana M., Miras, Mirta B., Pellizas, Claudia G.
Published in Clinical endocrinology (Oxford) (01.03.2011)
Published in Clinical endocrinology (Oxford) (01.03.2011)
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Journal Article
Posición de los endocrinólogos pediatras argentinos acerca de la intercambiabilidad de hormonas de crecimiento
Alonso, Guillermo, Balbi, Viviana, Bazán de Casella, Cristina, Belgorosky, Alicia, Bergadá, Ignacio, Brunetto, Oscar, Cassinelli, Hamilton, Ciaccio, Marta, Keselman, Ana, Miras, Mirta B, Morín, Analía
Published in Archivos argentinos de pediatría (01.08.2019)
Published in Archivos argentinos de pediatría (01.08.2019)
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