Isabel Casado-Gonzalez

La Paz, MD, Spain

Last Updated: 09/26/2026

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Found 16 publications

Delphi-based Spanish consensus on the use of long-acting growth hormone in pediatric growth hormone deficiency: recommendations from the ConverGHe Working Group.

Delphi-based Spanish consensus on the use of long-acting growth hormone in pediatric growth hormone deficiency: recommendations from the ConverGHe Working Group.

Journal: Frontiers in endocrinology

Published: October 03, 2025

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Journal: Advances in laboratory medicine

Published: July 25, 2023

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Journal: Journal of clinical medicine

Published: June 21, 2023

Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study.

Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study.

Journal: Journal of endocrinological investigation

Published: September 23, 2021

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Journal: European journal of endocrinology

Published: May 26, 2021

Noonan syndrome: genetic and clinical update and treatment options

Noonan syndrome: genetic and clinical update and treatment options

Journal: Anales de pediatria

Published: March 12, 2020

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Journal: The Journal of clinical endocrinology and metabolism

Published: January 27, 2020

A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.

A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.

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

Published: November 30, 2018

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.

Journal: American journal of medical genetics. Part A

Published: November 18, 2018

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Journal: Clinical endocrinology

Published: December 07, 2017

Multiple SLC26A2 mutations occurring in a three-generational family.

Multiple SLC26A2 mutations occurring in a three-generational family.

Journal: European journal of medical genetics

Published: February 10, 2017

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Journal: Journal of human genetics

Published: June 06, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026