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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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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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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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Acid-labile subunit (ALS) deficiency

Baillière's best practice & research. Clinical endocrinology & metabolism, 2011-02, Vol.25 (1), p.101-113

2011

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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.291-296

2015

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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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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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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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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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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

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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Insulin level and insulin sensitivity indices among healthy children and adolescents

Archivos argentinos de pediatría, 2016-08, Vol.114 (4), p.329

2016

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

European journal of endocrinology, 2019-11, Vol.181 (5), p.K43-K53

2019

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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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Unbound (bioavailable) IGF1 enhances somatic growth

Disease models & mechanisms, 2011-09, Vol.4 (5), p.649-658

2011

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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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Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency

Hormone research, 2007-01, Vol.67 (5), p.243-249

2007

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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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Effects of deflazacort vs. methylprednisone: a randomized study in kidney transplant patients

Pediatric nephrology (Berlin, West), 2007-05, Vol.22 (5), p.734-741

2007

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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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Growth Hormone Insensitivity Associated with a STAT5b Mutation

The New England journal of medicine, 2003-09, Vol.349 (12), p.1139-1147

2003

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Circulating IGF-I Deficiency and Inactivation of the Acid-Labile Subunit Gene

The New England journal of medicine, 2004-04, Vol.350 (18), p.1906-1906

Daughaday, William H

2004

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

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

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

Acid-labile subunit (ALS) deficiency

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

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

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

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

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

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

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

Insulin level and insulin sensitivity indices among healthy children and adolescents

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

Unbound (bioavailable) IGF1 enhances somatic growth

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

Normal growth spurt and final height despite low levels of all forms of circulating insulin-like growth factor-I in a patient with acid-labile subunit deficiency

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)

Effects of deflazacort vs. methylprednisone: a randomized study in kidney transplant patients

p.R209H GH1 variant challenges short stature assessment

Growth Hormone Insensitivity Associated with a STAT5b Mutation

Circulating IGF-I Deficiency and Inactivation of the Acid-Labile Subunit Gene

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