Mariana L. Gutierrez

B, Argentina

Last Updated: 09/26/2026

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Found 10 publications

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

Type 1 Insulin-Like Growth Factor Receptor Nuclear Localization in High-Grade Glioma Cells Enhances Motility, Metabolism, and In Vivo Tumorigenesis.

Type 1 Insulin-Like Growth Factor Receptor Nuclear Localization in High-Grade Glioma Cells Enhances Motility, Metabolism, and In Vivo Tumorigenesis.

Journal: Frontiers in endocrinology

Published: January 05, 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

Activating mutations of STAT3: Impact on human growth.

Activating mutations of STAT3: Impact on human growth.

Journal: Molecular and cellular endocrinology

Published: May 22, 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

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

Showing 1-10 of 10

Last Updated: 09/26/2026