S Ellard Selected Research

Mason-Type Diabetes

3/2014	HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response.
8/2013	Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.
1/2013	HNF1B deletions in patients with young-onset diabetes but no known renal disease.
12/2011	Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.
5/2010	Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
11/2003	Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
10/2002	Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
9/2001	A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young.
5/2001	Predictive genetic testing in maturity-onset diabetes of the young (MODY).
2/2001	beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.

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S Ellard Research Topics

Disease

21	Type 2 Diabetes Mellitus (MODY) 01/2016 - 02/2000
14	Mason-Type Diabetes 03/2014 - 02/2000
6	Diabetes Mellitus 01/2016 - 09/2007
5	Cysts 01/2013 - 03/2000
4	Neoplasms (Cancer) 01/2018 - 02/2000
3	Epilepsy (Aura) 01/2016 - 09/2007
3	Type 3 Maturity-Onset Diabetes of the Young 09/2001 - 09/2000
2	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 12/2019 - 04/2009
2	Congenital Hyperinsulinism 01/2014 - 05/2011
2	Birth Weight (Birth Weights) 01/2009 - 12/2006
2	Fetal Growth Retardation (Intrauterine Growth Retardation) 11/2008 - 12/2006
2	Permanent Neonatal Diabetes Mellitus 05/2008 - 11/2007
2	Insulin Resistance 11/2006 - 02/2001
2	Renal cysts and diabetes syndrome 05/2004 - 01/2001
2	Type 4 Maturity-Onset Diabetes of the Young 09/2001 - 11/2000
2	Type 1 Maturity-Onset Diabetes of the Young 09/2001 - 11/2000
2	Gestational Diabetes (Gestational Diabetes Mellitus) 08/2001 - 02/2000
1	Heart Failure 10/2020
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 10/2020
1	Sudden Death 10/2020
1	Genetic Risk Score 12/2019
1	Contracture 01/2018
1	Dystonia (Limb Dystonia) 01/2018
1	Gastroesophageal Reflux (GERD) 01/2018
1	Vocal Cord Paralysis 01/2018
1	Thrombocytopenia (Thrombopenia) 01/2018
1	Muscle Hypotonia (Hypotonia) 01/2017
1	Obesity 01/2016
1	Microcephaly 01/2016
1	Intellectual Disability (Idiocy) 01/2016
1	Diabetes Complications 01/2016
1	Cholestasis 09/2013
1	Carcinoma (Carcinomatosis) 08/2013
1	Exocrine Pancreatic Insufficiency 05/2013
1	Poisoning 10/2011
1	Reinfection 03/2011
1	Congenital Hypothyroidism (Cretinism) 03/2011
1	Hypothyroidism 03/2011
1	Liver Diseases (Liver Disease) 03/2011
1	Hypoglycemia (Reactive Hypoglycemia) 05/2010
1	Hyperammonemia 05/2010
1	Hyperinsulinism (Hyperinsulinemia) 05/2010
1	Disease Progression 04/2009
1	Mitochondrial Diseases (Mitochondrial Disease) 08/2008
1	Liver Failure 08/2008
1	Wolcott-Rallison syndrome 08/2008
1	Acute Liver Failure (Fulminant Hepatic Failure) 08/2008
1	Breast Neoplasms (Breast Cancer) 03/2008
1	Unconsciousness (Loss of Consciousness) 12/2007
1	Seizures (Absence Seizure) 12/2007
1	Developmental Delay, Epilepsy, and Neonatal Diabetes 09/2007
1	Atrophy 01/2006
1	Gout 01/2006
1	Jarcho-Levin syndrome 05/2003

Drug/Important Bio-Agent (IBA)

14	Insulin (Novolin)FDA Link 01/2016 - 02/2000
9	Hepatocyte Nuclear Factor 1-alpha (Hepatocyte Nuclear Factor 1 alpha)IBA 11/2007 - 09/2000
8	GlucokinaseIBA 08/2013 - 02/2000
6	Adenosine Triphosphate (ATP)IBA 08/2012 - 09/2007
6	Transcription Factors (Transcription Factor)IBA 03/2011 - 02/2001
5	Hepatocyte Nuclear FactorsIBA 01/2013 - 02/2001
5	NFI Transcription FactorsIBA 04/2009 - 11/2000
5	Hepatocyte Nuclear Factor 1-betaIBA 12/2006 - 01/2001
4	Diazoxide (Hyperstat)FDA Link 01/2017 - 12/2007
3	Glucose (Dextrose)FDA LinkGeneric 03/2014 - 02/2000
3	DNA (Deoxyribonucleic Acid)IBA 09/2007 - 02/2000
2	AutoantibodiesIBA 12/2019 - 11/2006
2	pancreatic and duodenal homeobox 1 proteinIBA 05/2013 - 06/2011
2	KATP ChannelsIBA 05/2011 - 11/2007
1	AntibodiesIBA 12/2019
1	AntigensIBA 12/2019
1	Zinc Transporter 8IBA 12/2019
1	Glutamate Decarboxylase (Decarboxylase, Glutamate)IBA 12/2019
1	niraparibIBA 01/2018
1	Poly(ADP-ribose) Polymerase InhibitorsIBA 01/2018
1	PlatinumIBA 01/2018
1	tRNA MethyltransferasesIBA 01/2016
1	IncretinsIBA 03/2014
1	temsirolimus FDA Link 08/2013
1	Thyroglobulin FDA Link 03/2011
1	Protein Isoforms (Isoforms)IBA 05/2009
1	Insulin-Like PeptidesIBA 11/2008
1	Peptide Initiation Factors (Initiation Factor)IBA 08/2008
1	Phosphotransferases (Kinase)IBA 08/2008
1	Docetaxel (Taxotere)FDA Link 03/2008
1	Paclitaxel (Taxol)FDA LinkGeneric 03/2008
1	AnthracyclinesIBA 03/2008
1	Octreotide (Sandostatin)FDA LinkGeneric 12/2007
1	Glyburide (Glibenclamide)FDA LinkGeneric 09/2007
1	PotassiumIBA 09/2007
1	Apolipoprotein A-II (Apolipoprotein A2)IBA 05/2005
1	LigandsIBA 05/2003
1	BilirubinIBA 01/2003

Therapy/Procedure

5	Therapeutics 01/2016 - 09/2007
1	Heart Transplantation (Grafting, Heart) 10/2020
1	Drug Tapering 01/2018
1	Drug Therapy (Chemotherapy) 01/2018
1	Gastrostomy 01/2018
1	Ligation 01/2013
1	Liver Transplantation 08/2008
1	Bone Marrow Transplantation (Transplantation, Bone Marrow) 02/2005