PubMed

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

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, Ellard S.

J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. Epub 2009 Oct 16.PMID: 19837917 [PubMed - in process]Related articlesFree article

Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes.

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

Diabetes. 2009 Sep 30. [Epub ahead of print]PMID: 19794065 [PubMed - as supplied by publisher]Related articles

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

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

Hum Mutat. 2009 Nov;30(11):1512-26.PMID: 19790256 [PubMed - in process]Related articles

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

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

Hum Genet. 2009 Sep 17. [Epub ahead of print]PMID: 19760265 [PubMed - as supplied by publisher]Related articles

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

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, Gloyn AL.

Diabetes. 2009 Dec;58(12):2954-61. Epub 2009 Aug 31.PMID: 19720790 [PubMed - in process]Related articles

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

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

Eur J Endocrinol. 2009 Nov;161(5):731-5. Epub 2009 Aug 18.PMID: 19690084 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Seymour L.

J Clin Oncol. 2009 Sep 20;27(27):4536-41. Epub 2009 Aug 17.PMID: 19687332 [PubMed - indexed for MEDLINE]Related articles

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).

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

Diabet Med. 2009 May;26(5):569-70. No abstract available. PMID: 19646202 [PubMed - in process]Related articles

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

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

J Mol Diagn. 2009 Sep;11(5):450-7. Epub 2009 Jul 30.PMID: 19644022 [PubMed - indexed for MEDLINE]Related articles

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

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

Ann Oncol. 2009 Jul 24. [Epub ahead of print]PMID: 19633045 [PubMed - as supplied by publisher]Related articles

Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.

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, Attersley AT.

JOP. 2009 Jul 6;10(4):457-8. No abstract available. PMID: 19581757 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Aust N Z J Obstet Gynaecol. 2009 Jun;49(3):328-30.PMID: 19566570 [PubMed - indexed for MEDLINE]Related articles

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.

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

Diabetologia. 2009 Aug;52(8):1683-5. Epub 2009 Jun 5. No abstract available. PMID: 19499210 [PubMed - indexed for MEDLINE]Related articlesFree article

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S.

Pediatr Diabetes. 2009 Jun 3. [Epub ahead of print]PMID: 19496964 [PubMed - as supplied by publisher]Related articles

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

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

J Mol Diagn. 2009 Jul;11(4):298-305. Epub 2009 May 21.PMID: 19460942 [PubMed - indexed for MEDLINE]Related articles

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

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

J Clin Endocrinol Metab. 2009 Jul;94(7):2221-5. Epub 2009 May 5.PMID: 19417036 [PubMed - indexed for MEDLINE]Related articles

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.

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, Klimes I, Gloyn AL.

Diabetes. 2009 Aug;58(8):1929-35. Epub 2009 May 1.PMID: 19411616 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Genet Test Mol Biomarkers. 2009 Jun;13(3):381-6.PMID: 19405871 [PubMed - indexed for MEDLINE]Related articles

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2009 May;20(5):1123-31. Epub 2009 Apr 23.PMID: 19389850 [PubMed - indexed for MEDLINE]Related articles

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

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

Diabet Med. 2009 Apr;26(4):437-41.PMID: 19388975 [PubMed - indexed for MEDLINE]Related articles

Spondylocostal dysostosis associated with methylmalonic aciduria.

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

Genet Test Mol Biomarkers. 2009 Apr;13(2):181-3.PMID: 19371216 [PubMed - indexed for MEDLINE]Related articles

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

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

J Clin Endocrinol Metab. 2009 Jul;94(7):2551-7. Epub 2009 Apr 7.PMID: 19351728 [PubMed - indexed for MEDLINE]Related articles

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

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

J Clin Oncol. 2009 Mar 20;27(9):1388-93. Epub 2009 Feb 23.PMID: 19237634 [PubMed - indexed for MEDLINE]Related articles

Hyperinsulinaemic hypoglycaemia.

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

Arch Dis Child. 2009 Jun;94(6):450-7. Epub 2009 Feb 4. Review.PMID: 19193661 [PubMed - indexed for MEDLINE]Related articles

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

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

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1350-5.PMID: 19169493 [PubMed - indexed for MEDLINE]Related articlesFree article

Phase II trial of OGX-011 in combination with docetaxel in metastatic breast cancer.

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

Clin Cancer Res. 2009 Jan 15;15(2):708-13.PMID: 19147778 [PubMed - indexed for MEDLINE]Related articles

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

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

Diabet Med. 2009 Jan;26(1):14-8.PMID: 19125755 [PubMed - indexed for MEDLINE]Related articles

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

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

Clin Endocrinol (Oxf). 2009 Sep;71(3):358-62. Epub 2008 Nov 18.PMID: 19021632 [PubMed - indexed for MEDLINE]Related articles

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.

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

Diabetologia. 2009 Jan;52(1):172-4. Epub 2008 Nov 11. No abstract available. PMID: 19002431 [PubMed - indexed for MEDLINE]Related articles

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

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, Mounier M, Migeon M, Ellard S, Kröger N, Herrmann R, Prchal JT, Skoda RC, Hermouet S.

Haematologica. 2009 Jan;94(1):38-45. Epub 2008 Nov 10.PMID: 19001280 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.

Flanagan SE, Ellard S.

Methods Mol Biol. 2008;491:235-45.PMID: 18998097 [PubMed - indexed for MEDLINE]Related articles

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

Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, Edghill EL.

JOP. 2008 Nov 3;9(6):715-8.PMID: 18981553 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

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

Diabetes Care. 2009 Jan;32(1):111-6. Epub 2008 Oct 17.PMID: 18931102 [PubMed - in process]Related articlesFree article

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.

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

Hum Mutat. 2009 Feb;30(2):170-80. Review.PMID: 18767144 [PubMed - indexed for MEDLINE]Related articles

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

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

J Clin Endocrinol Metab. 2008 Nov;93(11):4373-80. Epub 2008 Aug 26.PMID: 18728168 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Buchanan CR.

J Inherit Metab Dis. 2008 Aug;31(4):540-6. Epub 2008 Aug 16.PMID: 18704764 [PubMed - indexed for MEDLINE]Related articles

Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1.

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

Clin Endocrinol (Oxf). 2009 Mar;70(3):499-500. Epub 2008 Jul 31. No abstract available. PMID: 18673462 [PubMed - indexed for MEDLINE]Related articles

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.

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, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC.

Science. 2008 Aug 8;321(5890):839-43. Epub 2008 Jul 24.PMID: 18653847 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Hattersley AT, Robinson DO, Temple IK.

Nat Genet. 2008 Aug;40(8):949-51. Epub 2008 Jul 11.PMID: 18622393 [PubMed - indexed for MEDLINE]Related articles

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

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

Diabetes. 2008 Jul;57(7):1978-82.PMID: 18586913 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

J Pediatr. 2008 Jul;153(1):122-6. Epub 2008 Mar 6.PMID: 18571549 [PubMed - indexed for MEDLINE]Related articles

Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.

Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I.

Diabetes Care. 2008 Sep;31(9):1736-7. Epub 2008 Jun 12.PMID: 18556340 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Am J Med Genet A. 2008 Jul 1;146A(13):1713-7. Review.PMID: 18512226 [PubMed - indexed for MEDLINE]Related articles

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O.

Am J Hum Genet. 2008 Jun;82(6):1334-41. Epub 2008 May 15.PMID: 18485326 [PubMed - indexed for MEDLINE]Related articlesFree article

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S.

Am J Med Genet A. 2008 Jun 15;146A(12):1530-42.PMID: 18478590 [PubMed - indexed for MEDLINE]Related articles

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

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

Eur J Endocrinol. 2008 Jul;159(1):27-34. Epub 2008 May 1.PMID: 18450771 [PubMed - indexed for MEDLINE]Related articlesFree article

Transcription factor HNF1beta and novel partners affect nephrogenesis.

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

Kidney Int. 2008 Jul;74(2):210-7. Epub 2008 Apr 16.PMID: 18418350 [PubMed - indexed for MEDLINE]Related articles

DIABETES SUSCEPTIBILITY IN THE CANADIAN OJI-CREE POPULATION IS MODERATED BY ABNORMAL mRNA PROCESSING OF HNF1A G319S TRANSCRIPTS.

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

Diabetes. 2008 Apr 14. [Epub ahead of print]PMID: 18411242 [PubMed - as supplied by publisher]Related articles

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

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

Nephrol Dial Transplant. 2008 Jul;23(7):2412-5. Epub 2008 Apr 14. No abstract available. PMID: 18411231 [PubMed - indexed for MEDLINE]Related articles

Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.

Tysoe C, Law CJ, Caswell R, Clayton P, Ellard S.

Prenat Diagn. 2008 May;28(5):384-8.PMID: 18395876 [PubMed - indexed for MEDLINE]Related articles