Publications by authors named "Sabina Domene"

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An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.
Estefanía Landi, Liliana Karabatas, Tomás Rodríguez Gomez, Lucía Salatino, Paula Scaglia

Hum Mol Genet· July 2023

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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.
Sabina Domené, Paula A Scaglia, Mariana L Gutiérrez, Horacio M Domené

Cells· August 2021

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Unraveling the Molecular Players at the Cholinergic Efferent Synapse of the Zebrafish Lateral Line.
Agustín E Carpaneto Freixas, Marcelo J Moglie, Tais Castagnola, Lucia Salatino, Sabina Domene

J Neurosci· January 2021

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Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development.
Estefanía Landi, Liliana Karabatas, Paula Scaglia, Francisco Pisciottano, Mariana Gutiérrez

Gen Comp Endocrinol· December 2020

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The role of acid-labile subunit (ALS) in the modulation of GH-IGF-I action.
Sabina Domené, Horacio M Domené

Mol Cell Endocrinol· December 2020

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A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
Laura Ramírez, Nora Sanguineti, Paula Scaglia, Ana Keselman, María Gabriela Ballerini

Growth Horm IGF Res· February 2020

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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Ana Claudia Keselman, Ayelen Martin, Paula Alejandra Scaglia, Nora María Sanguineti, Romina Armando

Eur J Endocrinol· November 2019

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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
Mariana Gutiérrez, Paula Scaglia, Ana Keselman, Lucía Martucci, Liliana Karabatas

Mol Cell Endocrinol· September 2018

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Genetic Mutations in the GH/IGF Axis.
Sabina Domené, Horacio M Domené

Pediatr Endocrinol Rev· September 2018

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Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Paula A Scaglia, Ana C Keselman, Débora Braslavsky, Lucía C Martucci, Liliana M Karabatas

Clin Endocrinol (Oxf)· September 2017

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Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.
Lucía C Martucci, Mariana L Gutiérrez, Liliana M Karabatas, Paula A Scaglia, Rodolfo A Rey

Mol Cell Endocrinol· July 2016

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Enhancer turnover and conserved regulatory function in vertebrate evolution.
Sabina Domené, Viviana F Bumaschny, Flávio S J de Souza, Lucía F Franchini, Sofía Nasif

Philos Trans R Soc Lond B Biol Sci· December 2013

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Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
Gyu-Un Bae, Sabina Domené, Erich Roessler, Karen Schachter, Jong-Sun Kang

Am J Hum Genet· August 2011

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Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.
Sabina Domené, Horia Stanescu, Deeann Wallis, Bradford Tinloy, Daniel E Pineda

Am J Med Genet B Neuropsychiatr Genet· January 2011

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Association of the TGrI29 microsatellite in thyroglobulin gene with autoimmune thyroiditis in a Argentinian population: a case-control study.
Viviana Varela, Leonardo Rizzo, Sabina Domené, Oscar D Bruno, Mariana L Tellechea

Endocrine· December 2010

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A novel SIX3 mutation segregates with holoprosencephaly in a large family.
Benjamin D Solomon, Felicitas Lacbawan, Mahim Jain, Sabina Domené, Erich Roessler

Am J Med Genet A· May 2009

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Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Sabina Domené, Erich Roessler, Kenia B El-Jaick, Mirit Snir, Jamie L Brown

Hum Mol Genet· December 2008

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Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
Viviana J Gutnisky, Christian M Moya, Carina M Rivolta, Sabina Domené, Viviana Varela

J Clin Endocrinol Metab· February 2004

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Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
Carina M Rivolta, Sebastián A Esperante, Laura Gruñeiro-Papendieck, Ana Chiesa, Christian M Moya

Hum Mutat· September 2003

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