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

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

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

Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.

Kumaraguru J, Flanagan SE, Greeley SA, Nuboer R, Støy J, Philipson LH, Hattersley AT, Rubio-Cabezas O.

Diabetes Care. 2009 Aug;32(8):1428-30. Epub 2009 May 12.PMID: 19435956 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

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

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

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

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

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

Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy.

Wagner VM, Kremke B, Hiort O, Flanagan SE, Pearson ER.

Eur J Pediatr. 2009 Mar;168(3):359-61. Epub 2008 Jun 12.PMID: 18548275 [PubMed - indexed for MEDLINE]Related articles

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes.

de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MS, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM.

EMBO Rep. 2008 Jul;9(7):648-54. Epub 2008 May 23.PMID: 18497752 [PubMed - indexed for MEDLINE]Related articlesFree article

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.

Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM.

Diabetologia. 2008 May;51(5):802-10. Epub 2008 Mar 12.PMID: 18335204 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M.

Diabet Med. 2008 Mar;25(3):277-81.PMID: 18307455 [PubMed - indexed for MEDLINE]Related articles

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group, Hattersley AT, Ellard S.

Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.PMID: 18162506 [PubMed - indexed for MEDLINE]Related articlesFree article

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes.

de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch AM, Flanagan SE, Ellard S, Hattersley AT, Sansom MS, Ashcroft FM.

Proc Natl Acad Sci U S A. 2007 Nov 27;104(48):18988-92. Epub 2007 Nov 19.PMID: 18025464 [PubMed - indexed for MEDLINE]Related articlesFree article

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.

Rafiq M, Flanagan SE, Patch AM, Shields BM, Ellard S, Hattersley AT; Neonatal Diabetes International Collaborative Group.

Diabetes Care. 2008 Feb;31(2):204-9. Epub 2007 Nov 19.PMID: 18025408 [PubMed - indexed for MEDLINE]Related articlesFree article

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.

Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.

Diabetes. 2008 Jan;57(1):259-63. Epub 2007 Oct 17.PMID: 17942822 [PubMed - indexed for MEDLINE]Related articlesFree article

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.

Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S.

Diabetes. 2008 Jan;57(1):255-8. Epub 2007 Oct 17.PMID: 17942821 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.

Tarasov AI, Girard CA, Larkin B, Tammaro P, Flanagan SE, Ellard S, Ashcroft FM.

Diabetes Obes Metab. 2007 Nov;9 Suppl 2:46-55.PMID: 17919178 [PubMed - indexed for MEDLINE]Related articles

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.

Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S.

Diabetes Obes Metab. 2007 Nov;9 Suppl 2:28-39.PMID: 17919176 [PubMed - indexed for MEDLINE]Related articles

Insulin gene mutations as a cause of permanent neonatal diabetes.

Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. Epub 2007 Sep 12.PMID: 17855560 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Ellard S, Flanagan SE, Girard CA, Patch AM, Harries LW, Parrish A, Edghill EL, Mackay DJ, Proks P, Shimomura K, Haberland H, Carson DJ, Shield JP, Hattersley AT, Ashcroft FM.

Am J Hum Genet. 2007 Aug;81(2):375-82. Epub 2007 Jun 29.PMID: 17668386 [PubMed - indexed for MEDLINE]Related articlesFree article

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F.

Neurology. 2007 Sep 25;69(13):1342-9. Epub 2007 Jul 25.PMID: 17652641 [PubMed - indexed for MEDLINE]Related articles

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.

Jenkins D, Bitner-Glindzicz M, Thomasson L, Malcolm S, Warne SA, Feather SA, Flanagan SE, Ellard S, Bingham C, Santos L, Henkemeyer M, Zinn A, Baker LA, Wilcox DT, Woolf AS.

J Pediatr Urol. 2007 Feb;3(1):2-9.PMID: 17476318 [PubMed - in process]Related articlesFree article

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

Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT.

Diabetes. 2007 Jul;56(7):1930-7. Epub 2007 Apr 19. Erratum in: Diabetes. 2008 Feb;57(2):523. PMID: 17446535 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days.

Codner E, Flanagan SE, Ugarte F, García H, Vidal T, Ellard S, Hattersley AT.

Diabetes Care. 2007 May;30(5):e28-9. Epub 2007 Mar 2. No abstract available. PMID: 17337505 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, Rankin J, Hattersley AT, Ellard S.

J Clin Endocrinol Metab. 2007 May;92(5):1773-7. Epub 2007 Feb 27.PMID: 17327377 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I.

J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. Epub 2007 Jan 9.PMID: 17213273 [PubMed - indexed for MEDLINE]Related articlesFree article

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group.

N Engl J Med. 2006 Aug 3;355(5):467-77.PMID: 16885550 [PubMed - indexed for MEDLINE]Related articlesFree article

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months.

Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM.

Diabetes. 2006 Jun;55(6):1895-8.PMID: 16731860 [PubMed - indexed for MEDLINE]Related articlesFree article

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.

Hum Mol Genet. 2006 Jun 1;15(11):1793-800. Epub 2006 Apr 13.PMID: 16613899 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.

Diabetologia. 2006 Jun;49(6):1190-7. Epub 2006 Apr 12.PMID: 16609879 [PubMed - indexed for MEDLINE]Related articles