V. Hwa

发表

An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.

Aleksey A. Porollo, C. de Bruin, V. Mericq, 2015, The Journal of clinical endocrinology and metabolism.

Cutting Edge: Decreased Accumulation and Regulatory Function of CD4+CD25high T Cells in Human STAT5b Deficiency1

K. Nadeau, D. Lewis, A. Krensky, 2006, The Journal of Immunology.

Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.

Alexander A. Morgan, W. Al-Herz, S. Seki, 2013, Clinical immunology.

Insulin Resistance Is Associated With Increased Serum Concentration of IGF-Binding Protein–Related Protein 1 (IGFBP-rP1/MAC25)

J. Fernández-Real, A. López-Bermejo, W. Ricart, 2006, Diabetes.

Generation of anti-insulin-like growth factor-binding protein-related protein 1 (IGFBP-rP1/MAC25) monoclonal antibodies and immunoassay: quantification of IGFBP-rP1 in human serum and distribution in human fluids and tissues.

C. Corless, A. López-Bermejo, V. Hwa, 2003, The Journal of clinical endocrinology and metabolism.

Insulin‐like growth factor binding protein‐related protein 1 (IGFBP‐rP1/mac 25) is reduced in human prostate cancer and is inversely related to tumor volume and proliferation index in Lucap 23.12 xenografts

R. Vessella, S. Plymate, V. Hwa, 2003, The Prostate.

Characterization of insulin-like growth factor-binding protein-related proteins (IGFBP-rPs) 1, 2, and 3 in human prostate epithelial cells: potential roles for IGFBP-rP1 and 2 in senescence of the prostatic epithelium.

S. Plymate, V. Hwa, G. Devi, 2000, Endocrinology.

The insulin-like growth factor-binding protein superfamily.

S. Plymate, E. Wilson, V. Hwa, 2000, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Insulin‐like growth factor binding proteins: a proposed superfamily

V. Hwa, Y. Oh, R. Rosenfeld, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

The IGF Binding Protein Superfamily

E. Wilson, A. López-Bermejo, V. Hwa, 1999 .

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.

Timothy C. Miller, J. Hirschhorn, Shayne F. Andrew, 2013, The Journal of clinical endocrinology and metabolism.

A novel insulin-like growth factor (IGF)-independent role for IGF binding protein-3 in mesenchymal chondroprogenitor cell apoptosis.

C. Roberts, V. Hwa, F. Chiarelli, 2003, Endocrinology.

Prostate Cancer ( IGFBP-rP 1 ) Is a Potential Tumor Suppressor Protein for Insulin-like Growth Factor Binding Protein-related Protein 1 Updated

S. Plymate, V. Hwa, C. Sprenger, 1999 .

Insulin-like growth factor binding protein-related protein 1 (IGFBP-rP1) is a potential tumor suppressor protein for prostate cancer.

S. Plymate, V. Hwa, C. Sprenger, 1999, Cancer research.

Insulin-like Growth Factor Binding Protein-related Protein 1 ( IGFBP-rP 1 ) Is a Potential Tumor Suppressor Protein for Prostate Cancer 1

S. Plymate, V. Hwa, C. Sprenger, 1999 .

Characterization of insulin-like growth factor-binding protein-related protein-1 in prostate cells.

S. Plymate, V. Hwa, R. Rosenfeld, 1998, The Journal of clinical endocrinology and metabolism.

Insulin-like growth factor-binding proteins (IGFBPs) and their regulatory dynamics.

Z. Gucev, V. Hwa, R. Rosenfeld, 1996, The international journal of biochemistry & cell biology.

Growth Hormone Physiology

V. Hwa, P. Backeljauw, 2016 .

IGF-I in human growth: lessons from defects in the GH-IGF-I axis.

V. Hwa, P. Fang, R. Rosenfeld, 2013, Nestle Nutrition Institute workshop series.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

A. V. Vulto-van Silfhout, R. Pfundt, M. Reijnders, 2019, American journal of human genetics.

Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in Inuit subjects and an Ecuadorian cohort: functional studies of two codon 180 GH receptor gene mutations.

B. Little, V. Hwa, J. Guevara-Aguirre, 2008, The Journal of clinical endocrinology and metabolism.

A Human Variant of Glucose-Regulated Protein 94 That Inefficiently Supports IGF Production.

O. Pedersen, N. Barzilai, G. Atzmon, 2016, Endocrinology.

A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes

D. Perry, T. Foster, V. Hwa, 2020, Hormone Research in Paediatrics.

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

Michael H. Guo, M. Guo, Shayne F. Andrew, 2017, Hormone Research in Paediatrics.

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

V. Hwa, L. Metherell, A. David, 2011, Endocrine reviews.

HmbR outer membrane receptors of pathogenic Neisseria spp.: iron-regulated, hemoglobin-binding proteins with a high level of primary structure conservation

V. Hwa, I. Stojiljković, M. So, 1996, Journal of bacteriology.

Connective tissue growth factor/IGF-binding protein-related protein-2 is a mediator in the induction of fibronectin by advanced glycosylation end-products in human dermal fibroblasts.

V. Hwa, A. Joly, S. Twigg, 2002, Endocrinology.

The Insulin-like Growth Factor-binding Protein (igfbp) Superfamily*

V. Hwa, R. Rosenfeld, Y. Oh, 2022 .

Biology of the somatotroph axis (after the pituitary).

V. Hwa, R. Rosenfeld, 2017, Annales d'endocrinologie.

Nomenclature of the insulin-like growth factor-binding protein superfamily.

V. Hwa, R. Rosenfeld, Y. Oh, 2001, The Journal of clinical endocrinology and metabolism.

Interaction of IGF-binding protein-related protein 1 with a novel protein, neuroendocrine differentiation factor, results in neuroendocrine differentiation of prostate cancer cells.

E. Wilson, V. Hwa, R. Rosenfeld, 2001, The Journal of clinical endocrinology and metabolism.

Binding properties and distribution of insulin-like growth factor binding protein-related protein 3 (IGFBP-rP3/NovH), an additional member of the IGFBP Superfamily.

E. Wilson, V. Hwa, C. Burren, 1999, The Journal of clinical endocrinology and metabolism.

Anthropometric and Biochemical Correlates of PAPP-A2, Free IGF-I, and IGFBP-3 in Childhood.

C. Oxvig, P. Sluss, V. Hwa, 2020, European journal of endocrinology.

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

C. Gordon, V. Hwa, A. Dauber, 2017, The Journal of clinical endocrinology and metabolism.

The insulin-like growth factor binding protein superfamily: new perspectives.

A. López-Bermejo, V. Hwa, G. Devi, 1999, Pediatrics.

Germinal heterozygous activating STAT3 mutations represent a novel monogenic defect

L. Bezrodnik, V. Hwa, S. Revale, 2017 .

A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.

Michael H. Guo, H. Ostrer, Yiping Shen, 2014, The Journal of clinical endocrinology and metabolism.

Current issues on molecular diagnosis of GH signaling defects.

V. Hwa, R. Rosenfeld, Michael A. Derr, 2013, Endocrine development.

Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

B. Little, V. Hwa, G. Ocal, 2005, The Journal of clinical endocrinology and metabolism.

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions

H. V. van Duyvenvoorde, M. Losekoot, J. Wit, 2013, Hormone Research in Paediatrics.

Chapter 26 – Genetic Diagnosis of Growth Failure

V. Hwa, R. Rosenfeld, 2016 .

Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature

V. Hwa, R. Rosenfeld, J. Fuqua, 2012, Hormone Research in Paediatrics.

Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).

C. Cowell, V. Hwa, P. Fang, 2012, The Journal of clinical endocrinology and metabolism.

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

V. Hwa, P. Fang, R. Rosenfeld, 2011, The Journal of clinical endocrinology and metabolism.

Acid-labile subunit (ALS) deficiency.

V. Hwa, R. Rosenfeld, H. Domené, 2011, Best practice & research. Clinical endocrinology & metabolism.

Growth Hormone Receptor in Growth

V. Hwa, 2011 .

A Novel Y332C Missense Mutation in the Intracellular Domain of The Human Growth Hormone Receptor Does Not Alter STAT5b Signaling: Redundancy of GHR Intracellular Tyrosines Involved in STAT5b Signaling

V. Hwa, S. Ten, P. Fang, 2010, Hormone Research in Paediatrics.

Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain

V. Hwa, Helio F. Pedro, Valerie Auyeung, 2010, Hormone Research in Paediatrics.

Genetic Diagnosis of Growth Failure

V. Hwa, R. Rosenfeld, Ron G. Rosenfeld, 2010 .

Extreme Elevation of Serum Growth Hormone-Binding Protein Concentrations Resulting from a Novel Heterozygous Splice Site Mutation of the Growth Hormone Receptor Gene

B. Little, V. Hwa, S. Frank, 2009, Hormone Research in Paediatrics.

Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.

B. Little, V. Hwa, S. Amselem, 2007, The Journal of clinical endocrinology and metabolism.

Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

B. Little, V. Hwa, L. Metherell, 2007, Hormone Research in Paediatrics.

Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.

B. Little, V. Hwa, R. Rosenfeld, 2006, The Journal of clinical endocrinology and metabolism.

New molecular mechanisms of GH resistance.

V. Hwa, R. Rosenfeld, 2004, European journal of endocrinology.

Toward a molecular basis for idiopathic short stature.

V. Hwa, R. Rosenfeld, 2004, The Journal of clinical endocrinology and metabolism.

The Neisseria meningitidis haemoglobin receptor: its role in iron utilization and virulence

V. Hwa, F. Heffron, X. Nassif, 1995, Molecular microbiology.

STAT5b deficiency: an unsuspected cause of growth failure, immunodeficiency, and severe pulmonary disease.

K. Nadeau, V. Hwa, R. Rosenfeld, 2011, The Journal of pediatrics.

Cloning and characterization of the Neisseria meningitidis rfaC gene encoding alpha-1,5 heptosyltransferase I.

L. Lin, V. Hwa, X. Nassif, 1997, FEMS microbiology letters.

Antiproliferative Effects of Insulin-like Growth Factor-binding Protein-3 in Mesenchymal Chondrogenic Cell Line RCJ3.1C5.18

C. Roberts, V. Hwa, R. Rosenfeld, 2001, The Journal of Biological Chemistry.

In vivo imaging of hepatic growth hormone signaling.

V. Hwa, S. Frank, P. Fang, 2006, Molecular endocrinology.

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease

V. Hwa, A. Dauber, Z. Kuloğlu, 2015, Journal of Clinical Immunology.

STAT5b deficiency: lessons from STAT5b gene mutations.

K. Nadeau, J. Wit, V. Hwa, 2011, Best practice & research. Clinical endocrinology & metabolism.

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant

M. Losekoot, J. Wit, V. Hwa, 2022, Molecular and Cellular Endocrinology.

A Novel Exonic GHR Splicing Mutation (c.784G>C) in a Patient with Classical Growth Hormone Insensitivity Syndrome

V. Hwa, R. Rosenfeld, A. Akıncı, 2012, Hormone Research in Paediatrics.

Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders

L. Ibáñez, V. Hwa, B. Pérez-Dueñas, 2012, Hormone Research in Paediatrics.

A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor‐1 (IGF1)

V. Hwa, M. Khayat, Y. Tenenbaum‐Rakover, 2013, Clinical endocrinology.

Three Novel IGFALS Gene Mutations Resulting in Total ALS and Severe Circulating IGF-I/IGFBP-3 Deficiency in Children of Different Ethnic Origins

S. Kirsch, L. Cohen, V. Hwa, 2009, Hormone Research in Paediatrics.

Identification of the first patient with a confirmed mutation of the JAK-STAT system

B. Little, L. Bezrodnik, V. Hwa, 2005, Pediatric Nephrology.

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

Gabriela A. Vasques, C. de Bruin, V. Hwa, 2016, Hormone Research in Paediatrics.

En masse organoid phenotyping informs metabolic-associated genetic susceptibility to NASH

Y. Gindin, M. Kimura, P. Chaturvedi, 2022, Cell.

Direct repeats flanking the Bacteroides transposon Tn4351 are insertion sequence elements

V. Hwa, A. Salyers, N. Shoemaker, 1988, Journal of bacteriology.

S. Plymate, A. López-Bermejo, V. Hwa, 2000, Endocrinology.

Role of outer membrane components in the nonspecific binding ofEscherichia coli to cellulose

V. Hwa, T. Ferenci, 1987, Current Microbiology.

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes

V. Hwa, H. Saal, R. Hopkin, 2020, Birth defects research.

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

S. Poyrazoglu, F. Baş, F. Darendeliler, 2019, Journal of clinical research in pediatric endocrinology.

Novel Insights from Clinical Practice

M. Guo, Shayne F. Andrew, V. Hwa, 2017 .

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

V. Hwa, A. Bar-Ilan, L. Moschcovich, 2016, Molecular pharmaceutics.

Clinical phenotype and musculoskeletal characteristics of patients with aggrecan deficiency

Jeffery A Taylor-Haas, V. Hwa, A. Dauber, 2022, American journal of medical genetics. Part A.

Intrauterine and postnatal growth failure with normal GH/IGF1 axis and insulin-resistant diabetes in a consanguineous kinship.

H. Ostrer, V. Hwa, J. Guevara-Aguirre, 2012, European journal of endocrinology.

A locus that contributes to colonization of the intestinal tract by Bacteroides thetaiotaomicron contains a single regulatory gene (chuR) that links two polysaccharide utilization pathways

V. Hwa, A. Salyers, Q. Cheng, 1992, Journal of bacteriology.

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

V. Hwa, A. Dauber, P. Backeljauw, 2018, Hormone Research in Paediatrics.

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

V. Hwa, A. Bar-Ilan, L. Moschcovich, 2016 .

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

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

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

Martin A. M. Reijns, S. Robertson, J. Rappsilber, 2018, Nature Genetics.

Identification of STAT-1 as a Molecular Target of IGFBP-3 in the Process of Chondrogenesis*

C. Roberts, V. Hwa, F. Chiarelli, 2002, The Journal of Biological Chemistry.

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

L. Pérez-Jurado, C. Conover, C. Oxvig, 2016, EMBO molecular medicine.

Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: One-Year Response.

V. Hwa, A. Dauber, P. Backeljauw, 2021, The Journal of clinical endocrinology and metabolism.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

S. Lalani, M. Shinawi, J. Baron, 2017, The Journal of clinical endocrinology and metabolism.

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity

L. Dunkel, V. Hwa, L. Metherell, 2020, European journal of endocrinology.

Genetics of Polysaccharide Utilization Pathways of Colonic Bacteroides Species

V. Hwa, A. Salyers, P. J. Valentine, 1993 .

Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome

M. Dattani, V. Hwa, A. Dauber, 2017, Hormone Research in Paediatrics.

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

V. Hwa, A. Dauber, L. Metherell, 2018, Endocrine reviews.

The Growth Hormone Cascade and Its Role in Mammalian Growth

V. Hwa, R. Rosenfeld, 2009, Hormone Research in Paediatrics.

Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

H. V. van Duyvenvoorde, J. Wit, V. Hwa, 2009, Hormone Research in Paediatrics.

IGFBPs and cancer.

V. Hwa, P. Fang, R. Rosenfeld, 2004, Novartis Foundation symposium.

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

W. Chung, S. Saitta, J. Wynn, 2016, American journal of human genetics.

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

V. Hwa, 2020, Molecular and Cellular Endocrinology.

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

M. Dattani, Shayne F. Andrew, V. Hwa, 2018, Nature Communications.

Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity.

V. Hwa, P. Rotwein, R. Rosenfeld, 2013, Molecular endocrinology.

Insulin-like growth factor binding protein-3 and-5 are regulated by transforming growth factor-β and retinoic acid in the human prostate adenocarcinoma cell line PC-3

V. Hwa, R. Rosenfeld, Y. Oh, 1997, Endocrine.

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity

C. Pignata, V. Hwa, L. Metherell, 2021, The Journal of clinical endocrinology and metabolism.

Differential activation of the IGF binding protein-3 promoter by butyrate in prostate cancer cells.

V. Hwa, S. Twigg, R. Rosenfeld, 2002, Endocrinology.

Growth hormone insensitivity associated with a STAT5b mutation.

B. Little, L. Bezrodnik, V. Hwa, 2003, The New England journal of medicine.

A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease

V. Hwa, A. Dauber, Z. Kuloğlu, 2015, Journal of Clinical Immunology.

Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

V. Hwa, L. Metherell, A. David, 2007, European journal of endocrinology.

Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.

C. Roberts, V. Hwa, P. Fang, 2009, The Journal of clinical endocrinology and metabolism.

STAT5B deficiency: Impacts on human growth and immunity.

V. Hwa, 2016, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

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

C. de Bruin, V. Hwa, A. Dauber, 2016, Hormone Research in Paediatrics.

A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype

J. Hirschhorn, Shayne F. Andrew, V. Hwa, 2014, Hormone Research in Paediatrics.

A Novel GHR Intronic Variant, c.266+83G>T, Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome

Shayne F. Andrew, V. Hwa, R. Rosenfeld, 2013, Hormone Research in Paediatrics.

Defects in growth hormone receptor signaling

V. Hwa, M. Savage, A. Belgorosky, 2007, Trends in Endocrinology & Metabolism.

Interaction of IGF-binding protein-related protein 1 with a novel protein, neuroendocrine differentiation factor, results in neuroendocrine differentiation of prostate cancer cells.

E. Wilson, V. Hwa, R. Rosenfeld, 2001, The Journal of clinical endocrinology and metabolism.

A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor.

B. Little, V. Hwa, S. Frank, 2006, The Journal of clinical endocrinology and metabolism.

Transcriptional Regulation of Insulin-like Growth Factor-I by Interferon-γ Requires STAT-5b*

B. Little, V. Hwa, R. Rosenfeld, 2004, Journal of Biological Chemistry.

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

L. Bezrodnik, V. Hwa, L. Denson, 2018, Molecular and Cellular Endocrinology.

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

M. Dattani, Shayne F. Andrew, V. Hwa, 2018, Nature Communications.

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.

L. Bezrodnik, V. Hwa, P. Fang, 2012, The Journal of clinical endocrinology and metabolism.

Analysis of two chondroitin sulfate utilization mutants of Bacteroides thetaiotaomicron that differ in their abilities to compete with the wild type in the gastrointestinal tracts of germfree mice

V. Hwa, A. Salyers, 1992, Applied and environmental microbiology.

Evidence for differential regulation of genes in the chondroitin sulfate utilization pathway of Bacteroides thetaiotaomicron

V. Hwa, A. Salyers, 1992, Journal of bacteriology.

Downstream Mechanisms of Growth Hormone Action

V. Hwa, R. Rosenfeld, 2005 .

Growth hormone insensitivity resulting from post-GH receptor defects.

B. Little, V. Hwa, R. Rosenfeld, 2004, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Single cell transcriptomics identifies adipose tissue CD271+ progenitors for enhanced angiogenesis in limb ischemia

V. Hwa, S. Usui, K. Iino, 2023, bioRxiv.

Use of an Escherichia coli beta-glucuronidase gene as a reporter gene for investigation of Bacteroides promoters

V. Hwa, M. Feldhaus, A. Salyers, 1991, Journal of bacteriology.

Genetic Defects in the Growth Hormone–IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

V. Hwa, L. Metherell, A. David, 2011, Front. Endocrin..

Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

J. Hirschhorn, V. Hwa, A. Dauber, 2019, Hormone Research in Paediatrics.

IGFBP-3 sensitizes prostate cancer cells to interferon-gamma-induced apoptosis.

B. Little, V. Hwa, P. Fang, 2008, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Genetic causes of growth hormone insensitivity beyond GHR

V. Hwa, R. Rosenfeld, M. Fujimoto, 2020, Reviews in Endocrine and Metabolic Disorders.

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.

Timothy J. Peters, W. Al-Herz, S. Tangye, 2022, Journal of Allergy and Clinical Immunology.

Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein

V. Hwa, A. Dauber, Dongsheng Zhang, 2019, Clinical endocrinology.

Interferon-gamma-induced dephosphorylation of STAT3 and apoptosis are dependent on the mTOR pathway.

V. Hwa, P. Fang, R. Rosenfeld, 2006, Experimental cell research.

Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

J. Hirschhorn, T. Pers, J. Baron, 2012, The Journal of clinical endocrinology and metabolism.

Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings

V. Hwa, A. Dauber, P. Backeljauw, 2020, Journal of Clinical Immunology.

Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings

V. Hwa, A. Dauber, P. Backeljauw, 2020, Journal of Clinical Immunology.

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

V. Hwa, A. Dauber, L. Metherell, 2017, Journal of the Endocrine Society.

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

V. Hwa, A. Dauber, M. Fujimoto, 2017, Journal of clinical research in pediatric endocrinology.

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

P. Sluss, V. Hwa, A. Dauber, 2019, Endocrinology.

PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence

V. Hwa, A. Dauber, J. Khoury, 2018, Journal of the Endocrine Society.

The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

D. Damiani, E. Pinto, V. Hwa, 2014, American journal of medical genetics. Part A.

Connective tissue growth factor (IGFBP-rP2) expression and regulation in cultured bovine endothelial cells.

M. Boes, V. Hwa, R. Rosenfeld, 1999, Endocrinology.

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

H. Delemarre-van de Waal, C. Ruivenkamp, H. V. van Duyvenvoorde, 2012, Hormone Research in Paediatrics.

Aberrant Folding of a Mutant Stat5b Causes Growth Hormone Insensitivity and Proteasomal Dysfunction*

V. Hwa, P. Rotwein, W. Skach, 2006, Journal of Biological Chemistry.

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

V. Hwa, A. Dauber, P. Backeljauw, 2018, Hormone Research in Paediatrics.

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

V. Hwa, A. Dauber, P. Backeljauw, 2018, Hormone Research in Paediatrics.

Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.

V. Hwa, A. Akıncı, C. Karakurt, 2019, Cardiovascular journal of Africa.

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

J. Wit, V. Hwa, A. Belgorosky, 2015, European journal of endocrinology.

The insulin-like growth factor-binding protein (IGFBP) superfamily.

V. Hwa, Y. Oh, Ron G. Rosenfeld, 1999, Endocrine reviews.

Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.

Timothy C. Miller, J. Hirschhorn, Shayne F. Andrew, 2013, The Journal of clinical endocrinology and metabolism.

Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.

C. Roberts, V. Hwa, P. Fang, 2009, Journal of Clinical Endocrinology and Metabolism.

Acid-labile subunit (ALS) deficiency.

V. Hwa, R. Rosenfeld, H. Domené, 2011, Best practice & research. Clinical endocrinology & metabolism.

Transcriptional regulation of insulin-like growth factor-I by interferon-gamma requires STAT-5b.

B. Little, V. Hwa, R. Rosenfeld, 2004, The Journal of biological chemistry.