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Past, Present, and Future in the Relationship between Growth Retardation and the IGF System: Excerpts from the Cesar Bergada Lecture Given during the SLEP 2015 Annual Meeting

Hormone research in paediatrics, 2016-01, Vol.86 (5), p.291-299

Jasper, Héctor

2016

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Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

EMBO molecular medicine, 2016-04, Vol.8 (4), p.363-374

2016

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

Clinical endocrinology (Oxford), 2017-09, Vol.87 (3), p.300-311

2017

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

Molecular and cellular endocrinology, 2018-09, Vol.473, p.166-177

2018

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Serum complexes of insulin-like growth factor-1 modulate skeletal integrity and carbohydrate metabolism

The FASEB journal, 2009-03, Vol.23 (3), p.709-719

2009

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Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System

Hormone research in paediatrics, 2013-01, Vol.80 (6), p.413-423

2013

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

Growth hormone & IGF research, 2020-02, Vol.50, p.61-70

2020

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p.R209H GH1 variant challenges short stature assessment

Growth hormone & IGF research, 2020-02, Vol.50, p.23-26

2020

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Phenotypic Effects of Null and Haploinsufficiency of Acid-Labile Subunit in a Family with Two Novel IGFALS Gene Mutations

The journal of clinical endocrinology and metabolism, 2007-11, Vol.92 (11), p.4444-4450

2007

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Acid-labile subunit (ALS) deficiency

Best Practice & Research Clinical Endocrinology & Metabolism, 2011-02, Vol.25 (1), p.101-113

2011

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Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature

Hormone research in paediatrics, 2010-01, Vol.74 (4), p.297-304

2010

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Association of serum components of the GH-IGFs-IGFBPs system with GHR -exon 3 polymorphism in normal and idiopathic short stature children

Growth hormone & IGF research, 2013-12, Vol.23 (6), p.229-236

2013

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

Molecular and cellular endocrinology, 2016-07, Vol.429, p.19-28

2016

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

Human molecular genetics, 2023-07, Vol.32 (15), p.2473-2484

2023

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STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

European journal of endocrinology, 2015-09, Vol.173 (3), p.291

2015

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A Novel Missense Mutation in the SH2 Domain of the STAT5B Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease

The journal of clinical endocrinology and metabolism, 2012-05, Vol.97 (5), p.E830-E839

2012

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Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences

Hormone research, 2009-01, Vol.72 (3), p.129-141

2009

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Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene

The New England journal of medicine, 2004-02, Vol.350 (6), p.570-577

2004

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Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature

Pediatric endocrinology reviews : PER, 2010-06, Vol.7 (4), p.339

2010

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

General and comparative endocrinology, 2020-12, Vol.299, p.113591-113591, Article 113591

2020

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Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy

Hormone research in paediatrics, 2017-01, Vol.88 (5), p.354-363

2017

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Estrogen priming effect on growth hormone (GH) provocative test : A useful tool for the diagnosis of GH deficiency

The journal of clinical endocrinology and metabolism, 2000-11, Vol.85 (11), p.4168-4172

2000

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A study on strategies for improving growth and body composition after renal transplantation

Pediatric nephrology (Berlin, West), 2010-04, Vol.25 (4), p.753-762

2010

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Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

The journal of clinical endocrinology and metabolism, 2010-09, Vol.95 (9), p.4184-4191

2010

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Past, Present, and Future in the Relationship between Growth Retardation and the IGF System: Excerpts from the Cesar Bergada Lecture Given during the SLEP 2015 Annual Meeting

Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

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

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

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

Serum complexes of insulin-like growth factor-1 modulate skeletal integrity and carbohydrate metabolism

Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System

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

p.R209H GH1 variant challenges short stature assessment

Phenotypic Effects of Null and Haploinsufficiency of Acid-Labile Subunit in a Family with Two Novel IGFALS Gene Mutations

Acid-labile subunit (ALS) deficiency

Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature

Association of serum components of the GH-IGFs-IGFBPs system with GHR -exon 3 polymorphism in normal and idiopathic short stature children

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

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

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

A Novel Missense Mutation in the SH2 Domain of the STAT5B Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease

Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences

Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene

Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature

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

Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy

Estrogen priming effect on growth hormone (GH) provocative test : A useful tool for the diagnosis of GH deficiency

A study on strategies for improving growth and body composition after renal transplantation

Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

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