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    Results: 39

    1.

    Species-specific differences in the expression of the HNF1A, HNF1B and HNF4A genes.

    Harries LW, Brown JE, Gloyn AL.

    PLoS One. 2009 Nov 16;4(11):e7855.PMID: 19924231 [PubMed - in process]Related articlesFree article

    2.

    Investigating the targets of MIR-15a and MIR-16-1 in patients with chronic lymphocytic leukemia (CLL).

    Hanlon K, Rudin CE, Harries LW.

    PLoS One. 2009 Sep 25;4(9):e7169.PMID: 19779621 [PubMed - in process]Related articlesFree article

    3.

    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

    4.

    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

    5.

    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

    6.

    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

    7.

    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

    8.

    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

    9.

    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

    10.

    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

    11.

    The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.

    Harries LW, Locke JM, Shields B, Hanley NA, Hanley KP, Steele A, Njølstad PR, Ellard S, Hattersley AT.

    Diabetes. 2008 Jun;57(6):1745-52. Epub 2008 Mar 20.PMID: 18356407 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    RNA processing and mRNA surveillance in monogenic diabetes.

    Locke JM, Harries LW.

    Gene Regul Syst Bio. 2008 May 21;2:203-12.PMID: 19787084 [PubMed - in process]Related articlesFree article

    13.

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

    Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C.

    Nephrol Dial Transplant. 2008 Feb;23(2):627-35. Epub 2007 Oct 30.PMID: 17971380 [PubMed - indexed for MEDLINE]Related articles

    14.

    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

    15.

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

    Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT.

    Diabetologia. 2007 Nov;50(11):2313-7. Epub 2007 Sep 8.PMID: 17828387 [PubMed - indexed for MEDLINE]Related articles

    16.

    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

    17.

    Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease.

    Singh R, Edghill E, Bingham C, Ellard S, Hattersley AT, Harries LW.

    Diabet Med. 2007 Jul;24(7):804-6. No abstract available. PMID: 17596244 [PubMed - indexed for MEDLINE]Related articles

    18.

    Reduced peripheral blood mitochondrial DNA content is not a risk factor for Type 2 diabetes.

    Singh R, Hattersley AT, Harries LW.

    Diabet Med. 2007 Jul;24(7):784-7. Epub 2007 May 29.PMID: 17535293 [PubMed - indexed for MEDLINE]Related articles

    19.

    Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

    Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS; Wellcome Trust Case Control Consortium (WTCCC), McCarthy MI, Hattersley AT.

    Science. 2007 Jun 1;316(5829):1336-41. Epub 2007 Apr 26. Erratum in: Science. 2007 Aug 24;317(5841):1035-6. PMID: 17463249 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    A common variant of the p16(INK4a) genetic region is associated with physical function in older people.

    Melzer D, Frayling TM, Murray A, Hurst AJ, Harries LW, Song H, Khaw K, Luben R, Surtees PG, Bandinelli SS, Corsi AM, Ferrucci L, Guralnik JM, Wallace RB, Hattersley AT, Pharoah PD.

    Mech Ageing Dev. 2007 May-Jun;128(5-6):370-7. Epub 2007 Mar 27.PMID: 17459456 [PubMed - indexed for MEDLINE]Related articlesFree article

    21.

    A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

    Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott KS, Lango H, Rayner NW, Shields B, Harries LW, Barrett JC, Ellard S, Groves CJ, Knight B, Patch AM, Ness AR, Ebrahim S, Lawlor DA, Ring SM, Ben-Shlomo Y, Jarvelin MR, Sovio U, Bennett AJ, Melzer D, Ferrucci L, Loos RJ, Barroso I, Wareham NJ, Karpe F, Owen KR, Cardon LR, Walker M, Hitman GA, Palmer CN, Doney AS, Morris AD, Smith GD, Hattersley AT, McCarthy MI.

    Science. 2007 May 11;316(5826):889-94. Epub 2007 Apr 12.PMID: 17434869 [PubMed - indexed for MEDLINE]Related articlesFree article

    22.

    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

    23.

    Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation.

    Wolstencroft EC, Hanlon K, Harries LW, Standen GR, Sternberg A, Ellard S.

    J Mol Diagn. 2007 Feb;9(1):42-6.PMID: 17251334 [PubMed - indexed for MEDLINE]Related articlesFree article

    24.

    Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR products.

    Wickham CL, Harries LW, Sarsfield P, Joyner MV, Ellard S.

    Clin Lab Haematol. 2006 Aug;28(4):248-53.PMID: 16898964 [PubMed - indexed for MEDLINE]Related articlesFree article

    25.

    Conditional expression of hepatocyte nuclear factor-1beta, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic beta-cells.

    Welters HJ, Senkel S, Klein-Hitpass L, Erdmann S, Thomas H, Harries LW, Pearson ER, Bingham C, Hattersley AT, Ryffel GU, Morgan NG.

    J Endocrinol. 2006 Jul;190(1):171-81.PMID: 16837621 [PubMed - indexed for MEDLINE]Related articlesFree article

    26.

    Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes.

    Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT.

    Hum Mol Genet. 2006 Jul 15;15(14):2216-24. Epub 2006 Jun 7.PMID: 16760222 [PubMed - indexed for MEDLINE]Related articlesFree article

    27.

    Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.

    Singh R, Ellard S, Hattersley A, Harries LW.

    J Mol Diagn. 2006 May;8(2):225-30.PMID: 16645209 [PubMed - indexed for MEDLINE]Related articlesFree article

    28.

    Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.

    Theron T, Fousteri MI, Volker M, Harries LW, Botta E, Stefanini M, Fujimoto M, Andressoo JO, Mitchell J, Jaspers NG, McDaniel LD, Mullenders LH, Lehmann AR.

    Mol Cell Biol. 2005 Sep;25(18):8368-78.PMID: 16135823 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay.

    Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S.

    Hum Genet. 2005 Nov;118(2):214-24. Epub 2005 Nov 15.PMID: 16133182 [PubMed - indexed for MEDLINE]Related articles

    30.

    Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction.

    Harries LW, Wickham CL, Evans JC, Rule SA, Joyner MV, Ellard S.

    Bone Marrow Transplant. 2005 Feb;35(3):283-90.PMID: 15531894 [PubMed - indexed for MEDLINE]Related articles

    31.

    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.

    Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S.

    J Clin Endocrinol Metab. 2004 Aug;89(8):3932-5.PMID: 15292329 [PubMed - indexed for MEDLINE]Related articlesFree article

    32.

    Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome.

    Harries LW, Ellard S, Jones RW, Hattersley AT, Bingham C.

    Diabetologia. 2004 May;47(5):937-42. Epub 2004 Apr 15.PMID: 15085338 [PubMed - indexed for MEDLINE]Related articles

    34.

    Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.

    Bulman MP, Harries LW, Hansen T, Shepherd M, Kelly WF, Hattersley AT, Ellard S.

    Diabetologia. 2002 Oct;45(10):1463-7. Epub 2002 Sep 11.PMID: 12378390 [PubMed - indexed for MEDLINE]Related articles

    35.

    Molecular genetics of the human cytochrome P450 monooxygenase superfamily.

    Smith G, Stubbins MJ, Harries LW, Wolf CR.

    Xenobiotica. 1998 Dec;28(12):1129-65. Review. No abstract available. PMID: 9890157 [PubMed - indexed for MEDLINE]Related articles

    36.

    The glutathione S-transferase GSTP1 polymorphism: effects on susceptibility to oral/pharyngeal and laryngeal carcinomas.

    Matthias C, Bockmühl U, Jahnke V, Harries LW, Wolf CR, Jones PW, Alldersea J, Worrall SF, Hand P, Fryer AA, Strange RC.

    Pharmacogenetics. 1998 Feb;8(1):1-6.PMID: 9511175 [PubMed - indexed for MEDLINE]Related articles

    37.

    Genotypes of glutathione transferase M1 and P1 and their significance for lung DNA adduct levels and cancer risk.

    Ryberg D, Skaug V, Hewer A, Phillips DH, Harries LW, Wolf CR, Ogreid D, Ulvik A, Vu P, Haugen A.

    Carcinogenesis. 1997 Jul;18(7):1285-9.PMID: 9230269 [PubMed - indexed for MEDLINE]Related articlesFree article

    38.

    Identification of genetic polymorphisms at the glutathione S-transferase Pi locus and association with susceptibility to bladder, testicular and prostate cancer.

    Harries LW, Stubbins MJ, Forman D, Howard GC, Wolf CR.

    Carcinogenesis. 1997 Apr;18(4):641-4.PMID: 9111193 [PubMed - indexed for MEDLINE]Related articlesFree article

    39.

    Genetic analysis of the human cytochrome P450 CYP2C9 locus.

    Stubbins MJ, Harries LW, Smith G, Tarbit MH, Wolf CR.

    Pharmacogenetics. 1996 Oct;6(5):429-39.PMID: 8946475 [PubMed - indexed for MEDLINE]Related articles

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