Vivian Hwa Selected Research

Laron Syndrome (Syndrome, Laron)

1/2020	Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
3/2019	Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries.
1/2016	STAT5B deficiency: Impacts on human growth and immunity.
5/2014	The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
2/2011	STAT5b deficiency: lessons from STAT5b gene mutations.
6/2007	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.

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Vivian Hwa Research Topics

Disease

6	Laron Syndrome (Syndrome, Laron) 01/2020 - 06/2007
6	Insulin Resistance 11/2019 - 08/2006
5	Lung Diseases (Lung Disease) 01/2022 - 05/2012
4	Metabolic Bone Diseases (Osteopenia) 11/2019 - 01/2009
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2018 - 08/2007
4	Neoplasms (Cancer) 02/2008 - 07/2003
3	Insulin-Like Growth Factor I Deficiency 03/2019 - 04/2006
3	Prostatic Neoplasms (Prostate Cancer) 02/2008 - 05/2002
2	Eczema 01/2021 - 01/2018
2	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2018 - 01/2012
2	Microcephaly 01/2016 - 01/2013
2	Fetal Growth Retardation (Intrauterine Growth Retardation) 01/2013 - 03/2012
1	Osteoarthritis 01/2022
1	Intervertebral Disc Degeneration 01/2022
1	Persistent Infection 01/2021
1	Hypoglycemia (Reactive Hypoglycemia) 01/2020
1	Cardiomegaly (Heart Hypertrophy) 03/2019
1	Patent Ductus Arteriosus 03/2019
1	Peripheral Vascular Diseases (Peripheral Vascular Disease) 03/2019
1	Addison Disease (Addison's Disease) 01/2018
1	Immune System Diseases (Immune Disorders) 01/2018
1	Angelman Syndrome (Syndrome, Angelman) 01/2018
1	Uniparental Disomy 01/2018
1	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation 03/2017
1	Silver-Russell Syndrome 03/2017
1	Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 01/2017
1	Weight Gain 02/2016
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2016
1	Delayed Puberty 12/2013
1	Infections 01/2013
1	Intellectual Disability (Idiocy) 01/2013
1	Resistance To Insulin-Like Growth Factor I 01/2013
1	Dwarfism 11/2012
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 03/2012
1	Obesity 03/2012
1	Asthenia 01/2012
1	Anorexia 01/2012
1	Achalasia Addisonianism Alacrimia syndrome 01/2012
1	Weight Loss (Weight Reduction) 01/2012
1	Chronic Disease (Chronic Diseases) 08/2011
1	Type 2 Diabetes Mellitus (MODY) 06/2007
1	Carcinogenesis 07/2003
1	Hepatoblastoma 06/2002

Drug/Important Bio-Agent (IBA)

14	Insulin-Like Growth Factor I (IGF-1)IBA 11/2019 - 08/2006
8	Growth Hormone (Somatotropin)IBA 01/2020 - 04/2006
7	Insulin-Like Growth Factor Binding ProteinsIBA 01/2016 - 05/2002
5	Insulin-Like Growth Factor Binding Protein 3IBA 11/2019 - 01/2004
5	Proteins (Proteins, Gene)FDA Link 11/2012 - 05/2002
4	Insulin (Novolin)FDA Link 12/2013 - 08/2006
4	insulin-like growth factor binding protein-related protein 1IBA 06/2007 - 07/2003
3	STAT5 Transcription FactorIBA 01/2022 - 04/2006
3	Somatotropin Receptors (Growth Hormone Receptor)IBA 01/2020 - 05/2014
3	Insulin-Like PeptidesIBA 01/2020 - 02/2016
2	Messenger RNA (mRNA)IBA 01/2020 - 05/2002
2	AcidsIBA 01/2016 - 04/2014
2	Interferon-gamma (Interferon, gamma)IBA 02/2008 - 05/2006
2	Insulin-Like Growth Factor Binding Protein 1IBA 02/2008 - 08/2006
1	Aggrecans (Aggrecan)IBA 01/2022
1	Cholesterol Side-Chain Cleavage Enzyme (CYP11A1)IBA 01/2018
1	Immunoglobulin E (IgE)IBA 01/2018
1	Proliferating Cell Nuclear Antigen (PCNA)IBA 03/2017
1	MOD-4023IBA 02/2016
1	TransketolaseIBA 01/2016
1	Insulin-Like Growth Factor II (Somatomedin A)IBA 01/2016
1	Blood Proteins (Serum Proteins)IBA 01/2016
1	Metalloproteases (Metalloproteinases)IBA 01/2016
1	Proline (L-Proline)FDA Link 01/2013
1	IGF Type 1 Receptor (IGF 1 Receptor)IBA 01/2013
1	Alanine (L-Alanine)FDA Link 01/2013
1	CytokinesIBA 01/2013
1	GlucocorticoidsIBA 01/2012
1	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2012
1	Oxidoreductases (Dehydrogenase)IBA 01/2012
1	Codon (Codons)IBA 03/2008
1	Ferritins (Ferritin)IBA 06/2007
1	EnzymesIBA 08/2006
1	Glucose (Dextrose)FDA LinkGeneric 08/2006
1	ImmunosorbentsIBA 08/2006
1	Type II Tumor Necrosis Factor ReceptorsIBA 08/2006
1	C-Reactive ProteinIBA 08/2006
1	AdiponectinIBA 08/2006
1	STAT3 Transcription Factor (Signal Transducer and Activator of Transcription 3)IBA 05/2006
1	Biological ProductsIBA 05/2006
1	Transcription Factors (Transcription Factor)IBA 04/2006
1	Monoclonal AntibodiesIBA 07/2003
1	AntibodiesIBA 07/2003
1	Growth InhibitorsIBA 05/2002
1	MicronutrientsIBA 05/2002
1	Butyric Acid (Butanoic Acid)IBA 05/2002
1	Butyrates (Butyrate)IBA 05/2002

Therapy/Procedure

3	Therapeutics 03/2019 - 08/2007
1	Orthopedic Procedures 01/2022
1	Injections 02/2016