Publications in collaboration with researchers from Universidad de Buenos Aires (15)

2023

  1. The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism

    Endocrine, Vol. 80, Núm. 1, pp. 47-53

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

2015

  1. Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression

    Molecular and Cellular Endocrinology, Vol. 404, pp. 9-15

2012

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

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

  2. Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19

    Molecular and Cellular Endocrinology, Vol. 348, Núm. 1, pp. 313-321

2011

  1. A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

    Clinical Endocrinology

2010

  1. Analysis of thyroglobulin gene polymorphisms in patients with autoimmune thyroiditis

    Endocrine, Vol. 37, Núm. 3, pp. 389-395

  2. 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

2009

  1. Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene

    Molecular and Cellular Probes, Vol. 23, Núm. 3-4, pp. 148-153

2007

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

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

  2. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: Haplotype analysis using intragenic thyroglobulin polymorphisms

    Journal of Endocrinology, Vol. 195, Núm. 1, pp. 167-177

  3. 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

2005

  1. A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: A mutational hot spot could explain the recurrence of this mutation

    Journal of Clinical Endocrinology and Metabolism, Vol. 90, Núm. 6, pp. 3766-3770

  2. Nonsense-associated alternative splicing of the human thyroglobulin gene

    Molecular Diagnosis, Vol. 9, Núm. 3, pp. 143-149