Horacio M. Domene

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

Last Updated: 09/26/2026

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Found 40 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

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.

Journal: The Journal of clinical endocrinology and metabolism
Published: May 26, 2022

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

McCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up.

McCune-Albright syndrome, a rare form of precocious puberty: Diagnosis, treatment, and follow-up.

Journal: Archivos argentinos de pediatria
Published: December 01, 2020

Physiology of GH action and associated human disorders.

Physiology of GH action and associated human disorders.

Journal: Molecular and cellular endocrinology
Published: November 10, 2020

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

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

p.R209H GH1 variant challenges short stature assessment.

p.R209H GH1 variant challenges short stature assessment.

Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society
Published: August 20, 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

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

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

Journal: Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
Published: April 19, 2018
Showing 1-12 of 40

Last Updated: 09/26/2026