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Items: 49

1.

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.

Ellard S, Colclough K, Patel KA, Hattersley AT.

J Clin Invest. 2019 Dec 9. pii: 133516. doi: 10.1172/JCI133516. [Epub ahead of print] No abstract available.

PMID:
31815736
2.

Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort Study.

Carlsson A, Shepherd M, Ellard S, Weedon M, Lernmark Å, Forsander G, Colclough K, Brahimi Q, Valtonen-Andre C, Ivarsson SA, Elding Larsson H, Samuelsson U, Örtqvist E, Groop L, Ludvigsson J, Marcus C, Hattersley AT.

Diabetes Care. 2019 Nov 8. pii: dc190747. doi: 10.2337/dc19-0747. [Epub ahead of print]

PMID:
31704690
3.

Phenotype, genotype and glycaemic variability in people with activating mutations in the ABCC8 gene: response to appropriate therapy.

Reilly F, Sanchez-Lechuga B, Clinton S, Crowe G, Burke M, Ng N, Colclough K, Byrne MM.

Diabet Med. 2019 Sep 28. doi: 10.1111/dme.14145. [Epub ahead of print]

PMID:
31562829
4.

HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.

Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D.

Kidney Int Rep. 2019 May 29;4(9):1304-1311. doi: 10.1016/j.ekir.2019.05.019. eCollection 2019 Sep.

5.

Updated prevalence of monogenic diabetes in Australia: Fremantle Diabetes Study Phase 2.

Davis TM, Makepeace AE, Peters K, Colclough K, Davis WA.

Med J Aust. 2019 Aug;211(4):189-189.e1. doi: 10.5694/mja2.50290. Epub 2019 Jul 18. No abstract available.

PMID:
31321782
6.

Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.

Yaghootkar H, Abbasi F, Ghaemi N, Rabbani A, Wakeling MN, Eshraghi P, Enayati S, Vakili S, Heidari S, Patel K, Sayarifard F, Borhan-Dayani S, McDonald TJ, Ellard S, Hattersley AT, Amoli MM, Vakili R, Colclough K.

Diabet Med. 2019 Dec;36(12):1694-1702. doi: 10.1111/dme.14071. Epub 2019 Jul 25.

PMID:
31276222
7.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN.

J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662.

8.

Anticancer Activity of Natural and Synthetic Capsaicin Analogs.

Friedman JR, Nolan NA, Brown KC, Miles SL, Akers AT, Colclough KW, Seidler JM, Rimoldi JM, Valentovic MA, Dasgupta P.

J Pharmacol Exp Ther. 2018 Mar;364(3):462-473. doi: 10.1124/jpet.117.243691. Epub 2017 Dec 15. Review.

9.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN.

Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9.

10.

The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II.

Davis TM, Makepeace AE, Ellard S, Colclough K, Peters K, Hattersley A, Davis WA.

Med J Aust. 2017 Oct 16;207(8):344-347.

PMID:
29020906
11.

MODY in Ukraine: genes, clinical phenotypes and treatment.

Globa E, Zelinska N, Elblova L, Dusatkova P, Cinek O, Lebl J, Colclough K, Ellard S, Pruhova S.

J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1095-1103. doi: 10.1515/jpem-2017-0075.

PMID:
28862987
12.

Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.

Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J, Knight B, Hyde C, Ellard S, Pearson ER, Hattersley AT; UNITED study team.

Diabetes Care. 2017 Aug;40(8):1017-1025. doi: 10.2337/dc17-0224.

13.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A.

Metabolism. 2017 Jun;71:213-225. doi: 10.1016/j.metabol.2017.03.011. Epub 2017 Mar 28.

14.

Towards a systematic nationwide screening strategy for MODY.

Shields B, Colclough K.

Diabetologia. 2017 Apr;60(4):609-612. doi: 10.1007/s00125-017-4213-7. Epub 2017 Jan 29.

PMID:
28132100
15.

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.

Laver TW, Colclough K, Shepherd M, Patel K, Houghton JA, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, Ellard S, Hattersley AT, Weedon MN.

Diabetes. 2016 Oct;65(10):3212-7. doi: 10.2337/db16-0628. Epub 2016 Aug 2.

16.

South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people.

Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT.

Diabetologia. 2016 Oct;59(10):2262-5. doi: 10.1007/s00125-016-4056-7. Epub 2016 Jul 19. No abstract available.

17.

Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center.

Thomas ER, Brackenridge A, Kidd J, Kariyawasam D, Carroll P, Colclough K, Ellard S.

J Diabetes Investig. 2016 May;7(3):332-7. doi: 10.1111/jdi.12432. Epub 2015 Oct 26.

18.

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.

Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, Mallam K, Moudiotis C, Smith R, Fraser B, Robertson S, Greene S, Ellard S, Pearson ER, Hattersley AT; UNITED Team.

Diabetes Care. 2016 Nov;39(11):1879-1888. Epub 2016 Jun 6.

19.

Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.

Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT.

Diabetes. 2016 Jul;65(7):2094-2099. doi: 10.2337/db15-1690. Epub 2016 Apr 5.

20.

tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.

Yew TW, McCreight L, Colclough K, Ellard S, Pearson ER.

Diabet Med. 2016 Sep;33(9):e21-5. doi: 10.1111/dme.13024.

21.

Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.

Bacon S, Kyithar MP, Rizvi SR, Donnelly E, McCarthy A, Burke M, Colclough K, Ellard S, Byrne MM.

Diabet Med. 2016 Jul;33(7):976-84. doi: 10.1111/dme.12992. Epub 2015 Nov 17.

PMID:
26479152
22.

Characteristics of maturity onset diabetes of the young in a large diabetes center.

Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, Steck AK.

Pediatr Diabetes. 2016 Aug;17(5):360-7. doi: 10.1111/pedi.12289. Epub 2015 Jun 8.

23.

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium, Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium.

Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11.

24.

Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care.

Shepherd M, Colclough K, Ellard S, Hattersley AT.

Clin Med (Lond). 2014 Apr;14(2):117-21. doi: 10.7861/clinmedicine.14-2-117.

25.

Clinical utility gene card for: Maturity-onset diabetes of the young.

Colclough K, Saint-Martin C, Timsit J, Ellard S, Bellanné-Chantelot C.

Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.14. Epub 2014 Feb 12. No abstract available.

26.

Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.

Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT.

JAMA. 2014 Jan 15;311(3):279-86. doi: 10.1001/jama.2013.283980.

PMID:
24430320
27.

Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia.

Stride A, Shields B, Gill-Carey O, Chakera AJ, Colclough K, Ellard S, Hattersley AT.

Diabetologia. 2014 Jan;57(1):54-6. doi: 10.1007/s00125-013-3075-x. Epub 2013 Oct 4.

28.

Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies.

Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, Hattersley AT, Shields BM.

PLoS One. 2013 Jun 14;8(6):e65326. doi: 10.1371/journal.pone.0065326. Print 2013.

29.

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JA, Shepherd M, Hattersley AT, Weedon MN, Caswell R.

Diabetologia. 2013 Sep;56(9):1958-63. doi: 10.1007/s00125-013-2962-5. Epub 2013 Jun 15.

30.

Atypical phenotype associated with reported GCK exon 10 deletions: Clinical judgement is needed alongside appropriate genetic investigations.

Thanabalasingham G, Kaur K, Talbot F, Colclough K, Mathews A, Taylor J, Ellard S, Owen KR.

Diabet Med. 2013 Aug;30(8):e233-8. doi: 10.1111/dme.12210.

PMID:
23586928
31.

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S.

Hum Mutat. 2013 May;34(5):669-85. doi: 10.1002/humu.22279. Epub 2013 Apr 2.

PMID:
23348805
32.

Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes.

Besser RE, Shields BM, Hammersley SE, Colclough K, McDonald TJ, Gray Z, Heywood JJ, Barrett TG, Hattersley AT.

Pediatr Diabetes. 2013 May;14(3):181-8. doi: 10.1111/pedi.12008. Epub 2013 Jan 4.

PMID:
23289766
33.

Cystatin C is not a good candidate biomarker for HNF1A-MODY.

Nowak N, Szopa M, Thanabalasingham G, McDonald TJ, Colclough K, Skupien J, James TJ, Kiec-Wilk B, Kozek E, Mlynarski W, Hattersley AT, Owen KR, Malecki MT.

Acta Diabetol. 2013 Oct;50(5):815-20. doi: 10.1007/s00592-012-0378-1. Epub 2012 Feb 19.

34.

Identification of HNF1A-MODY and HNF4A-MODY in Irish families: phenotypic characteristics and therapeutic implications.

Kyithar MP, Bacon S, Pannu KK, Rizvi SR, Colclough K, Ellard S, Byrne MM.

Diabetes Metab. 2011 Dec;37(6):512-9. doi: 10.1016/j.diabet.2011.04.002. Epub 2011 Jun 16.

PMID:
21683639
35.

Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.

Beer NL, van de Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL.

J Biol Chem. 2011 May 27;286(21):19118-26. doi: 10.1074/jbc.M111.223362. Epub 2011 Mar 29.

36.

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes.

McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, Williams A, Hattersley AT, Ellard S.

Diabet Med. 2011 Sep;28(9):1028-33. doi: 10.1111/j.1464-5491.2011.03287.x.

PMID:
21395678
37.

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S.

Diabetologia. 2010 Dec;53(12):2504-8. doi: 10.1007/s00125-010-1799-4. Epub 2010 May 25.

PMID:
20499044
38.

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, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, Hattersley AT, Weedon MN.

Diabetes. 2010 Jan;59(1):266-71. doi: 10.2337/db09-0555. Epub 2009 Sep 30.

39.

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. doi: 10.1002/humu.21110. Review.

PMID:
19790256
40.

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. doi: 10.2337/db09-0070. Epub 2009 May 1.

41.

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. doi: 10.1002/ajmg.a.32331.

PMID:
18478590
42.

Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations.

Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K.

Diabetes. 2008 Jun;57(6):1659-63. doi: 10.2337/db07-1657. Epub 2008 Feb 11.

43.

Hip extension strength following hamstring tendon harvest for ACL reconstruction.

Geoghegan JM, Geutjens GG, Downing ND, Colclough K, King RJ.

Knee. 2007 Oct;14(5):352-6. Epub 2007 Jul 12.

PMID:
17627827
45.

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
46.

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LI, Beards F, Hattersley AT, Ellard S.

Hum Mutat. 2003 Nov;22(5):417.

PMID:
14517956
47.

Arthroscopically assisted ACL reconstruction. Is a drain necessary?

Straw R, Colclough K, Geutjens GG.

Knee. 2003 Sep;10(3):283-5.

PMID:
12893151
48.
49.

Hip abductor strength following total hip arthroplasty: a prospective comparison of the posterior and lateral approach in 100 patients.

Downing ND, Clark DI, Hutchinson JW, Colclough K, Howard PW.

Acta Orthop Scand. 2001 Jun;72(3):215-20.

PMID:
11480593

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