Publications by authors named "Maria C Olcese"

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Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Maricel F Molina, Patricia Papendieck, Gabriela Sobrero, Viviana A Balbi, Fiorella S Belforte, María C Olcese

Endocrine· June 2022

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[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].
Rosa E Enacán, María E Masnata, Fiorella Belforte, Patricia Papendieck, María C Olcese

Arch Argent Pediatr· June 2017

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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.
Fiorella S Belforte, Cintia E Citterio, Graciela Testa, María Cecilia Olcese, Gabriela Sobrero

Mol Cell Endocrinol· January 2016

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Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Fiorella S Belforte, Mirta B Miras, María C Olcese, Gabriela Sobrero, Graciela Testa

Clin Endocrinol (Oxf)· April 2012

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Variable clinical presentation and outcome in pediatric patients with resistance to thyroid hormone (RTH).
Ana Chiesa, Maria Cecilia Olcese, Patricia Papendieck, Alicia Martinez, Ana Vieites

Endocrine· February 2012

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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.
Gloria A Machiavelli, Mariela Caputo, Carina M Rivolta, María C Olcese, Laura Gruñeiro-Papendieck

Clin Endocrinol (Oxf)· January 2010

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Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
Carina M Rivolta, María C Olcese, Fiorella S Belforte, Ana Chiesa, Laura Gruñeiro-Papendieck

Mol Cell Probes· August 2009

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