Publicacions en col·laboració amb investigadors/es de Hospital General de Niños Ricardo Gutierrez (7)

2022

  1. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

    Endocrine, Vol. 77, Núm. 1, pp. 86-101

2018

  1. Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

    Molecular and Cellular Endocrinology, Vol. 473, pp. 1-16

2013

  1. New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism

    Molecular and Cellular Endocrinology, Vol. 365, Núm. 2, pp. 277-291

2012

  1. Congenital goitrous hypothyroidism: Mutation analysis in the thyroid peroxidase gene

    Clinical Endocrinology, Vol. 76, Núm. 4, pp. 568-576

2010

  1. 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

    Clinical Endocrinology, Vol. 72, Núm. 1, pp. 112-121

2007

  1. Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene

    Clinical Endocrinology, Vol. 67, Núm. 3, pp. 351-357

  2. Two compound heterozygous mutations (c.215delA/c.2422T→C and c.387delC/c.1159G→A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect

    Clinical Endocrinology, Vol. 67, Núm. 2, pp. 238-246