Sabina Domene

Centro De Investigaciones Endocrinológicas 'Dr César Bergadá'
B C1425EFD, Argentina

Last Updated: 09/26/2026

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Found 12 publications

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.

Journal: Human molecular genetics

Published: January 30, 2023

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.

Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development.

Journal: Cells

Published: July 10, 2021

The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action.

The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action.

Journal: Molecular and cellular endocrinology

Published: July 20, 2020

Unraveling the Molecular Players at the Cholinergic Efferent Synapse of the Zebrafish Lateral Line.

Unraveling the Molecular Players at the Cholinergic Efferent Synapse of the Zebrafish Lateral Line.

Journal: The Journal of neuroscience : the official journal of the Society for Neuroscience

Published: July 09, 2020

Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development.

Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development.

Journal: General and comparative endocrinology

Published: May 06, 2020

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society

Published: November 05, 2019

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Journal: European journal of endocrinology

Published: July 19, 2019

Genetic Mutations in the GH/IGF Axis.

Genetic Mutations in the GH/IGF Axis.

Journal: Pediatric endocrinology reviews : PER

Published: November 01, 2018

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

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

Journal: Molecular and cellular endocrinology

Published: August 07, 2017

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

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

Journal: Clinical endocrinology

Published: January 25, 2017

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

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

Journal: Molecular and cellular endocrinology

Published: December 29, 2015

Enhancer turnover and conserved regulatory function in vertebrate evolution.

Enhancer turnover and conserved regulatory function in vertebrate evolution.

Journal: Philosophical transactions of the Royal Society of London. Series B, Biological sciences

Published: November 13, 2013

Showing 1-12 of 12

Last Updated: 09/26/2026