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Papers authored by Ellard S

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Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

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Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, and Ashcroft FM

Human molecular genetics 19(6):963-72, 2010 Mar 15 - Who cited this? | PubMed ID: 20022885 | Fulltext

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

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Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, Deeb A, Deiss D, Fernandez JM, Godbole K, Hussain K, O'Connell M,

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Proceedings of the National Academy of Sciences of the United States of America 107(7):3105-10, 2010 Feb 16 - Who cited this? | PubMed ID: 20133622 | Fulltext

A phase IB study of ABT-751 in combination with docetaxel in patients with advanced castration-resistant prostate cancer.

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Michels J, Ellard SL, Le L, Kollmannsberger C, Murray N, Tomlinson Guns ES, Carr R, and Chi KN

Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 21(2):305-11, 2010 Feb - Who cited this? | PubMed ID: 19633045 | Fulltext

Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay.

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Balasubramanian M, Shield JP, Acerini CL, Walker J, Ellard S, Marchand M, Polak M, Vaxillaire M, Crolla JA, Bunyan DJ, Mackay DJ, and Temple IK

American journal of medical genetics. Part A 152A(2):340-6, 2010 Feb - Who cited this? | PubMed ID: 20082465 | Fulltext

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.

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Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, Hattersley AT, and Weedon MN

Diabetes 59(1):266-71, 2010 Jan - Who cited this? | PubMed ID: 19794065 | Fulltext

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

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Edghill EL, Minton JA, Groves CJ, Flanagan SE, Patch AM, Rubio-Cabezas O, Shepherd M, Lenzen S, McCarthy MI, Ellard S, and Hattersley AT

JOP : Journal of the pancreas 11(1):14-7, 2010 - Who cited this? | PubMed ID: 20065546 | Fulltext

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.

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Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, Molven A, and Njølstad PR

Human genetics 127(1):55-64, 2010 Jan - Who cited this? | PubMed ID: 19760265 | Fulltext

Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.

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Kumaran A, Kapoor RR, Flanagan SE, Ellard S, and Hussain K

Hormone research in paediatrics 73(4):287-92, 2010 - Who cited this? | PubMed ID: 20215776 | Fulltext

Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Metabolism.

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Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, and Gloyn AL

Diabetes 58(12):2954-61, 2009 Dec - Who cited this? | PubMed ID: 19720790 | Fulltext

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

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Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, and Hussain K

European journal of endocrinology / European Federation of Endocrine Societies 161(5):731-5, 2009 Nov - Who cited this? | PubMed ID: 19690084 | Fulltext

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

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Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, and Gloyn AL

Human mutation 30(11):1512-26, 2009 Nov - Who cited this? | PubMed ID: 19790256 | Fulltext

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

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Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A, Neonatal Diabetes International Collaborative Group, Hattersley AT, and Ellard S

The Journal of clinical endocrinology and metabolism 94(11):4162-70, 2009 Nov - Who cited this? | PubMed ID: 19837917 | Fulltext

Randomized phase II study comparing two schedules of everolimus in patients with recurrent/metastatic breast cancer: NCIC Clinical Trials Group IND.163.

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Ellard SL, Clemons M, Gelmon KA, Norris B, Kennecke H, Chia S, Pritchard K, Eisen A, Vandenberg T, Taylor M, Sauerbrei E, Mishaeli M, Huntsman D, Walsh W, Olivo M, McIntosh L,

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Journal of clinical oncology : official journal of the American Society of Clinical Oncology 27(27):4536-41, 2009 Sep 20 - Who cited this? | PubMed ID: 19687332 | Fulltext

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.

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Klupa T, Kowalska I, Wyka K, Skupien J, Patch AM, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, Sieradzki J, Mlynarski W, and Malecki MT

Clinical endocrinology 71(3):358-62, 2009 Sep - Who cited this? | PubMed ID: 19021632 | Fulltext

Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology.

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Hanlon K, Harries LW, Ellard S, and Rudin CE

The Journal of molecular diagnostics : JMD 11(5):450-7, 2009 Sep - Who cited this? | PubMed ID: 19644022 | Fulltext

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births.

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Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, and Ellard S

Diabetologia 52(8):1683-5, 2009 Aug - Who cited this? | PubMed ID: 19499210 | Fulltext

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.

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Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S,

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Diabetes 58(8):1929-35, 2009 Aug - Who cited this? | PubMed ID: 19411616 | Fulltext

Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniques.

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Hanlon K, Ellard S, Rudin CE, Thorne S, Davies T, and Harries LW

The Journal of molecular diagnostics : JMD 11(4):298-305, 2009 Jul - Who cited this? | PubMed ID: 19460942 | Fulltext

An In-Frame Deletion in Kir6.2 (KCNJ11) Causing Neonatal Diabetes Reveals a Site of Interaction between Kir6.2 and SUR1.

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Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, and Ashcroft FM

The Journal of clinical endocrinology and metabolism 94(7):2551-7, 2009 Jul - Who cited this? | PubMed ID: 19351728 | Fulltext

3-hydroxyacyl-coenzyme a dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

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Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, and Hussain K

The Journal of clinical endocrinology and metabolism 94(7):2221-5, 2009 Jul - Who cited this? | PubMed ID: 19417036 | Fulltext

Hyperinsulinaemic hypoglycaemia.

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Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, and Hussain K

Archives of disease in childhood 94(6):450-7, 2009 Jun - Who cited this? | PubMed ID: 19193661 | Fulltext

Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting.

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Ellard S, Shields B, Tysoe C, Treacy R, Yau S, Mattocks C, and Wallace A

Genetic testing and molecular biomarkers 13(3):381-6, 2009 Jun - Who cited this? | PubMed ID: 19405871 | Fulltext

An In-Frame Deletion in Kir6.2 (KCNJ11) Causing Neonatal Diabetes Reveals a Site of Interaction between Kir6.2 and SUR1.

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Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, and Ashcroft FM

Endocrine reviews 30(4):412, 2009 Jun - Who cited this? | PubMed ID: 19502523 | Fulltext

Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene.

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Conn JJ, Simm PJ, Oats JJ, Nankervis AJ, Jacobs SE, Ellard S, and Hattersley AT

The Australian & New Zealand journal of obstetrics & gynaecology 49(3):328-30, 2009 Jun - Who cited this? | PubMed ID: 19566570 | Fulltext

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

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Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CA, Petz O, Mannikko R, Kapoor RR, Hussain K, Skae M, Clayton P, Hattersley A, Ellard S, and Ashcroft FM

EMBO molecular medicine 1(3):166-77, 2009 Jun - Who cited this? | PubMed ID: 20049716 | Fulltext

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I,

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Journal of the American Society of Nephrology : JASN 20(5):1123-31, 2009 May - Who cited this? | PubMed ID: 19389850 | Fulltext

Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD).

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Locke JM, Ellard S, Norwood VF, and Harries LW

Diabetic medicine : a journal of the British Diabetic Association 26(5):569-70, 2009 May - Who cited this? | PubMed ID: 19646202 | Fulltext

Spondylocostal dysostosis associated with methylmalonic aciduria.

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Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LM, Oliveira LA, Nomachi S, Hanai J, Benoist JF, Ellard S, Young E, and Kim CA

Genetic testing and molecular biomarkers 13(2):181-3, 2009 Apr - Who cited this? | PubMed ID: 19371216 | Fulltext

A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.

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Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, and Hattersley AT

Diabetic medicine : a journal of the British Diabetic Association 26(4):437-41, 2009 Apr - Who cited this? | PubMed ID: 19388975 | Fulltext

Effectiveness of a letter notification program for women with early-stage breast cancer eligible for extended adjuvant letrozole.

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McArthur HL, Gelmon KA, Olivotto IA, Speers CH, Ellard SL, O'Reilly SE, and Kennecke HF

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 27(9):1388-93, 2009 Mar 20 - Who cited this? | PubMed ID: 19237634 | Fulltext

Phase II Trial of OGX-011 in Combination with Docetaxel in Metastatic Breast Cancer.

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Chia S, Dent S, Ellard S, Ellis PM, Vandenberg T, Gelmon K, Powers J, Walsh W, Seymour L, and Eisenhauer EA

Clinical cancer research : an official journal of the American Association for Cancer Research 15(2):708-13, 2009 Jan 15 - Who cited this? | PubMed ID: 19147778 | Fulltext

Identification of Mutations in the Kir6.2 Subunit of the K(ATP) Channel.

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Flanagan SE and Ellard S

Methods in molecular biology (Clifton, N.J.) 491:235-45, 2009 - Who cited this? | PubMed ID: 18998097 | Fulltext

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

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Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, and Holman RR

Diabetologia 52(1):172-4, 2009 Jan - Who cited this? | PubMed ID: 19002431 | Fulltext

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes.

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Rubio-Cabezas O, Minton JA, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, Ellard S, and Hattersley AT

Diabetes care 32(1):111-6, 2009 Jan - Who cited this? | PubMed ID: 18931102 | Fulltext

Concordance of assays designed for the quantification of JAK2V617F: a multicenter study.

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Lippert E, Girodon F, Hammond E, Jelinek J, Reading NS, Fehse B, Hanlon K, Hermans M, Richard C, Swierczek S, Ugo V, Carillo S, Harrivel V, Marzac C, Pietra D, Sobas M,

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Haematologica 94(1):38-45, 2009 Jan - Who cited this? | PubMed ID: 19001280 | Fulltext

Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation.

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Spyer G, Macleod KM, Shepherd M, Ellard S, and Hattersley AT

Diabetic medicine : a journal of the British Diabetic Association 26(1):14-8, 2009 Jan - Who cited this? | PubMed ID: 19125755 | Fulltext

Mutations in the SLC29A3 Gene Are not a Common Cause of Isolated Autoantibody Negative Type 1 Diabetes.

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Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RC, Buckley MF, Hussain K, Ellard S, and Attersley AT

JOP : Journal of the pancreas 10(4):457-8, 2009 - Who cited this? | PubMed ID: 19581757 | Fulltext

Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene.

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Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T, and Hattersley AT

The Journal of clinical endocrinology and metabolism 93(11):4373-80, 2008 Nov - Who cited this? | PubMed ID: 18728168 | Fulltext

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.

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Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, and Reis AF

Arquivos brasileiros de endocrinologia e metabologia 52(8):1350-5, 2008 Nov - Who cited this? | PubMed ID: 19169493 | Fulltext

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.

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Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, and Ellard S

Human mutation, 2008 Sep 2 - Who cited this? | PubMed ID: 18767144 | Fulltext

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

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Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, Masoud AF, Oestergaard E, Storr J, Ellard S,

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Nature genetics 40(8):949, 2008 Aug - Who cited this? | PubMed ID: 18622393 | Fulltext

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome.

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Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJ, Wenning D, Flechtenmacher C, Ellard S, Smeitink JA, Hoffmann GF, and Buchanan CR

Journal of inherited metabolic disease 31(4):540-6, 2008 Aug - Who cited this? | PubMed ID: 18704764 | Fulltext

Germline mutations in the CDKN1B gene encoding p27(Kip1) are a rare cause of Multiple Endocrine Neoplasia type 1.

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Owens M, Stals K, Ellard S, and Vaidya B

Clinical endocrinology, 2008 Jul 31 - Who cited this? | PubMed ID: 18673462 | Fulltext

Human CHN1 Mutations Hyperactivate {alpha}2-Chimaerin and Cause Duane's Retraction Syndrome.

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Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B,

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Science (New York, N.Y.), 2008 Jul 24 - Who cited this? | PubMed ID: 18653847 | Fulltext

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

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Christesen HB, Tribble ND, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njølstad PR, Alm J, Brock Jacobsen B, Hussain K, and Gloyn AL

European journal of endocrinology / European Federation of Endocrine Societies 159(1):27, 2008 Jul - Who cited this? | PubMed ID: 18450771 | Fulltext

Transcription factor HNF1beta and novel partners affect nephrogenesis.

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Dudziak K, Mottalebi N, Senkel S, Edghill EL, Rosengarten S, Roose M, Bingham C, Ellard S, and Ryffel GU

Kidney international 74(2):210, 2008 Jul - Who cited this? | PubMed ID: 18418350 | Fulltext

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

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Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, and Crow Y

American journal of medical genetics. Part A 146A(13):1713-7, 2008 Jul 1 - Who cited this? | PubMed ID: 18512226 | Fulltext

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.

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Turkkahraman D, Bircan I, Tribble ND, Akçurin S, Ellard S, and Gloyn AL

The Journal of pediatrics 153(1):122-6, 2008 Jul - Who cited this? | PubMed ID: 18571549 | Fulltext

Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts.

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Harries LW, Sloman MJ, Sellers EA, Hattersley AT, and Ellard S

Diabetes 57(7):1978-82, 2008 Jul - Who cited this? | PubMed ID: 18586913 | Fulltext

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

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Murray PJ, Thomas K, Mulgrew CJ, Ellard S, Edghill EL, and Bingham C

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 23(7):2412-5, 2008 Jul - Who cited this? | PubMed ID: 18411231 | Fulltext

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