Publicaciones en colaboración con investigadores/as de Hospital General de Niños Ricardo Gutierrez (13)

2024

  1. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Comparison of Epidemiologic and Clinical COVID-19 Profiles in Children in Argentina, during Circulation of Original and Variant (Alpha, Gamma and Lambda) Strains

    Pediatric Infectious Disease Journal, Vol. 42, Núm. 2, pp. 136-142

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

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2018

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

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

2017

  1. International variability in gastrointestinal decontamination with acute poisonings

    Pediatrics, Vol. 140, Núm. 2

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

  2. The simultaneous high expression of Vα24, IFN-γ and FoxP3 characterizes the liver of children with type I autoimmune hepatitis

    Clinical Immunology, Vol. 137, Núm. 3, pp. 396-405

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