E. L. Edghill

发表

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

F. Ashcroft, T. Frayling, A. Hattersley, 2004, The New England journal of medicine.

HLA Genotyping Supports a Nonautoimmune Etiology in Patients Diagnosed With Diabetes Under the Age of 6 Months

P. Bingley, A. Hattersley, S. Ellard, 2006, Diabetes.

Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man

A. Hattersley, S. Ellard, J. Edge, 2014, Cell metabolism.

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

A. Hattersley, S. Ellard, A. Gloyn, 2006, European Journal of Human Genetics.

Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.

A. Hattersley, G. Enns, O. Abdul-Rahman, 2009, Journal of pediatric hematology/oncology.

Transcription factor HNF1b and novel partners affect

S. Ellard, G. Ryffel, E. L. Edghill, 2008 .

Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease.

A. Hattersley, S. Ellard, L. Harries, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B‐cell dysfunction

A. Hattersley, A. Gloyn, L. McCulloch, 2009, Diabetic medicine : a journal of the British Diabetic Association.

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.

S. Ellard, E. L. Edghill, C. Mulgrew, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Insulin Mutation Screening in 1,044 Patients With Diabetes

B. Shields, A. Hattersley, S. Ellard, 2008, Diabetes.

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

A. Hattersley, S. Ellard, C. Shaw-Smith, 2013, Diabetic medicine : a journal of the British Diabetic Association.

Short Report: Genetics Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

A. Hattersley, S. Ellard, C. Shaw-Smith, 2013 .

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

A. Hattersley, S. Ellard, L. Harries, 2010, Proceedings of the National Academy of Sciences.

Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

A. Hattersley, S. Ellard, A. Patch, 2009, The Journal of clinical endocrinology and metabolism.

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes

M. McCarthy, T. Frayling, M. Weedon, 2011, Diabetic medicine : a journal of the British Diabetic Association.

Short Report: Genetics Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes

M. McCarthy, T. Frayling, M. Weedon, 2011 .

Sequencing PDX 1 ( insulin promoter factor 1 ) in 1788 UK individuals found 5 % had a low frequency coding variant , but these variants are not associated with Type 2 diabetes

M. McCarthy, T. Frayling, M. Weedon, 2011 .

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

A. Hattersley, S. Ellard, L. Harries, 2007, The Journal of clinical endocrinology and metabolism.

Mutations in PTF1A cause pancreatic and cerebellar agenesis

A. Hattersley, R. Houlston, A. Gloyn, 2004, Nature Genetics.

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

A. Hattersley, S. Ellard, L. Harries, 2004, The Journal of clinical endocrinology and metabolism.

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.

M. McCarthy, A. Hattersley, C. Groves, 2010, JOP : Journal of the pancreas.

Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans

S. Ellard, A. Gloyn, M. van de Bunt, 2008, Molecular genetics and metabolism.

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

R. Hennekam, S. Ellard, L. Harries, 2009, Journal of the American Society of Nephrology : JASN.

Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

A. Hattersley, S. Ellard, A. Gloyn, 2008, Diabetes.

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.

A. Hattersley, S. Ellard, S. Flanagan, 2010, American journal of obstetrics and gynecology.

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

A. Hattersley, S. Ellard, A. Gloyn, 2007, Diabetes.

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

F. Ashcroft, A. Hattersley, S. Ellard, 2005, Human molecular genetics.

Genetic Disorders of the Pancreatic Beta Cell and Diabetes (Permanent Neonatal Diabetes and Maturity-Onset Diabetes of the Young)

A. Hattersley, E. L. Edghill, 2008 .

Marked hypercalcaemia in sepsis-induced multiple organ failure

S. Ellard, S. Kaser, C. Ebenbichler, 2007 .

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.

A. Hattersley, A. Stolpen, E. L. Edghill, 2008, Kidney international.

Transcription factor HNF1beta and novel partners affect nephrogenesis.

S. Ellard, G. Ryffel, E. L. Edghill, 2008, Kidney international.

Hepatocyte nuclear factor‐1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF‐1β in human pancreatic development

S. Ellard, C. Noordam, A. S. Slingerland, 2006, Diabetic medicine : a journal of the British Diabetic Association.

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

S. Ellard, S. Flanagan, E. L. Edghill, 2010, Reviews in Endocrine and Metabolic Disorders.

Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred.

S. Ellard, N. Sebire, A. Woolf, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Insulin gene mutations as a cause of permanent neonatal diabetes

A. Hattersley, S. Ellard, D. Steiner, 2007, Proceedings of the National Academy of Sciences.

siblings mutations and risk of neonatal diabetes for subsequent de novo KCNJ11 Origin of

A. Hattersley, S. Ellard, L. Harries, 2007 .

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

F. Ashcroft, A. Hattersley, S. Ellard, 2007, American journal of human genetics.

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

A. Hattersley, S. Ellard, A. Gloyn, 2004, Diabetes.

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2

E. Volpi, K. Elliott, S. Ellard, 2009, Diabetes.

Insights Into the Pathogenicity of Rare Missense GCK Variants From the Identification and Functional Characterization of Compound Heterozygous and Double Mutations Inherited in Cis

S. Ellard, A. Gloyn, A. Barrett, 2012, Diabetes Care.

Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion.

S. Ellard, S. Kaser, C. Ebenbichler, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

T. Hansen, O. Pedersen, A. Hattersley, 2007, Diabetologia.

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype

A. Hattersley, S. Ellard, A. Gloyn, 2006, Diabetologia.

Mutations in hepatocyte nuclear factor-1β and their related phenotypes

A. Hattersley, S. Ellard, A. Hattersley, 2005, Journal of Medical Genetics.

Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

S. Ellard, S. Nampoothiri, A. Unnikrishnan, 2008, JOP : Journal of the pancreas.

Heterozygous ABCC8 mutations are a cause of MODY

A. Hattersley, S. Ellard, S. Flanagan, 2011, Diabetologia.

Structure of the C-terminal RING finger from a RING-IBR-RING/TRIAD motif reveals a novel zinc-binding domain distinct from a RING.

Kenneth Wu, K. Borden, E. L. Edghill, 2004, Journal of molecular biology.

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

A. Hattersley, S. Ellard, L. Harries, 2010, Proceedings of the National Academy of Sciences of the United States of America.

Testing for monogenic diabetes among children and adolescents with antibody‐negative clinically defined Type 1 diabetes

Ó. Rubio-Cabezas, E. L. Edghill, A. T. Hattersley, 2009, Diabetic medicine : a journal of the British Diabetic Association.