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A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING

artículo científico publicado en 2019

Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.

artículo científico publicado en 2016

Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children.

artículo científico publicado en 2013

Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.

artículo científico publicado en 2017

Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy.

artículo científico publicado en 2017

Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system

artículo científico publicado en 2013

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

artículo científico publicado en 2018

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene

artículo científico publicado en 2012

Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus.

artículo científico publicado en 2012

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