Harries LW - Search Results

1

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. Adalat S, et al. Among authors: harries lw. J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23. J Am Soc Nephrol. 2009. PMID: 19389850 Free PMC article.

2

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. Edghill EL, et al. Among authors: harries lw. Nephrol Dial Transplant. 2008 Feb;23(2):627-35. doi: 10.1093/ndt/gfm603. Epub 2007 Oct 30. Nephrol Dial Transplant. 2008. PMID: 17971380

3

Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1436-1443.

Clissold RL, Harries LW, Ellard S, Bingham C, Hattersley AT. Clissold RL, et al. Among authors: harries lw. Diabetes Care. 2018 Jan;41(1):e7. doi: 10.2337/dc17-1672. Diabetes Care. 2018. PMID: 29263197 No abstract available.

4

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. Harries LW, et al. Diabetologia. 2004 May;47(5):937-42. doi: 10.1007/s00125-004-1383-x. Epub 2004 Apr 15. Diabetologia. 2004. PMID: 15085338

5

Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.

Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I, Murphy R. Wirsing A, et al. Among authors: harries lw. Diabet Med. 2010 Jun;27(6):631-5. doi: 10.1111/j.1464-5491.2010.03003.x. Diabet Med. 2010. PMID: 20546279

6

Dysregulation of Hnf1b gene expression in cultured beta-cells in response to cytotoxic fatty acid.

Johnstone KA, Diakogiannaki E, Dhayal S, Morgan NG, Harries LW. Johnstone KA, et al. Among authors: harries lw. JOP. 2011 Jan 5;12(1):6-10. JOP. 2011. PMID: 21206094 Free article.

7

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. Harries LW, et al. Hum Genet. 2005 Nov;118(2):214-24. doi: 10.1007/s00439-005-0023-y. Epub 2005 Nov 15. Hum Genet. 2005. PMID: 16133182 Clinical Trial.

8

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. Ellard S, et al. Among authors: harries lw. Diabetologia. 2007 Nov;50(11):2313-7. doi: 10.1007/s00125-007-0798-6. Epub 2007 Sep 8. Diabetologia. 2007. PMID: 17828387

9

Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay.

Harries LW, Hattersley AT, Ellard S. Harries LW, et al. Diabetes. 2004 Feb;53(2):500-4. doi: 10.2337/diabetes.53.2.500. Diabetes. 2004. PMID: 14747304

10

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. Harries LW, et al. Hum Mol Genet. 2006 Jul 15;15(14):2216-24. doi: 10.1093/hmg/ddl147. Epub 2006 Jun 7. Hum Mol Genet. 2006. PMID: 16760222

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