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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Nature genetics, 2019-01, Vol.51 (1), p.96-105

2019

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STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

The Journal of pediatrics, 2011-05, Vol.158 (5), p.701-708

2011

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Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Nature communications, 2018-05, Vol.9 (1), p.2105-10, Article 2105

2018

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Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2

Molecular and cellular endocrinology, 2021-01, Vol.519, p.111063-111063, Article 111063

Hwa, Vivian

2021

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Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

Endocrine reviews, 2019-04, Vol.40 (2), p.476-505

2019

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STAT5B deficiency: Impacts on human growth and immunity

Growth hormone & IGF research, 2016-06, Vol.28, p.16-20

Hwa, Vivian

2016

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Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2

Journal of clinical research in pediatric endocrinology, 2017-12, Vol.9 (Suppl 2), p.1-8

2017

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QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction

Nature communications, 2024-09, Vol.15 (1), p.8420-17, Article 8420

2024

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Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density

The journal of clinical endocrinology and metabolism, 2017-12, Vol.102 (12), p.4568-4577

2017

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Genetic causes of growth hormone insensitivity beyond GHR

Reviews in endocrine & metabolic disorders, 2021-03, Vol.22 (1), p.43-58

2021

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Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation

Endocrinology (Philadelphia), 2019-06, Vol.160 (6), p.1363-1376

2019

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A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

Journal of clinical research in pediatric endocrinology, 2019-12, Vol.11 (4), p.432-438

2019

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Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

Hormone research in paediatrics, 2018-01, Vol.89 (3), p.205-210

2018

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Skeletal overgrowth in a pre-pubescent child treated with pan-FGFR inhibitor

Heliyon, 2024-06, Vol.10 (11), p.e30887-e30887, Article e30887

2024

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The growth hormone cascade and its role in mammalian growth

Hormone research, 2009-04, Vol.71 Suppl 2 (Suppl. 2), p.36-40

2009

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STAT5b deficiency: Lessons from STAT5b gene mutations

Baillière's best practice & research. Clinical endocrinology & metabolism, 2011-02, Vol.25 (1), p.61-75

2011

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In Vitro and in Vivo Characterization of MOD-4023, a Long-Acting Carboxy-Terminal Peptide (CTP)-Modified Human Growth Hormone

Molecular pharmaceutics, 2016-02, Vol.13 (2), p.631-639

2016

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Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

The journal of clinical endocrinology and metabolism, 2012-02, Vol.97 (2), p.E243-E247

2012

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IGFALS Gene Dosage Effects on Serum IGF-I and Glucose Metabolism, Body Composition, Bone Growth in Length and Width, and the Pharmacokinetics of Recombinant Human IGF-I Administration

The journal of clinical endocrinology and metabolism, 2014-04, Vol.99 (4), p.E703-E712

2014

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Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency

Hormone research in paediatrics, 2016-01, Vol.85 (5), p.358-362

2016

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Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b

The journal of clinical endocrinology and metabolism, 2005-07, Vol.90 (7), p.4260-4266

2005

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Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay

The journal of clinical endocrinology and metabolism, 2009-05, Vol.94 (5), p.1740-1747

2009

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Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

Hormone research in paediatrics, 2017-01, Vol.87 (6), p.412-422

2017

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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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Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

Journal of the Endocrine Society, 2017-04, Vol.1 (4), p.345-358

2017

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Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

STAT5B deficiency: Impacts on human growth and immunity

Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction

Pharmacokinetics of IGF-1 in PAPP-A2-Deficient Patients, Growth Response, and Effects on Glucose and Bone Density

Genetic causes of growth hormone insensitivity beyond GHR

Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

Skeletal overgrowth in a pre-pubescent child treated with pan-FGFR inhibitor

The growth hormone cascade and its role in mammalian growth

STAT5b deficiency: Lessons from STAT5b gene mutations

In Vitro and in Vivo Characterization of MOD-4023, a Long-Acting Carboxy-Terminal Peptide (CTP)-Modified Human Growth Hormone

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

IGFALS Gene Dosage Effects on Serum IGF-I and Glucose Metabolism, Body Composition, Bone Growth in Length and Width, and the Pharmacokinetics of Recombinant Human IGF-I Administration

Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency

Severe Growth Hormone Insensitivity Resulting from Total Absence of Signal Transducer and Activator of Transcription 5b

Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

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

Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

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