Bingham C - Search Results

1

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group; Le Meur Y, Audrézet MP, Cornec-Le Gall E. Lemoine H, et al. Among authors: bingham c. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26. Am J Hum Genet. 2022. PMID: 35896117 Free PMC article.

2

Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease.

Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, Hattersley AT. Bingham C, et al. Am J Hum Genet. 2001 Jan;68(1):219-24. doi: 10.1086/316945. Epub 2000 Nov 20. Am J Hum Genet. 2001. PMID: 11085914 Free PMC article.

3

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. Among authors: bingham c. 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.

4

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.

Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT. Hamilton AJ, et al. Among authors: bingham c. J Med Genet. 2014 Mar;51(3):165-9. doi: 10.1136/jmedgenet-2013-102066. Epub 2013 Nov 27. J Med Genet. 2014. PMID: 24285859 Free PMC article.

5

HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. Clissold RL, et al. Among authors: bingham c. Nat Rev Nephrol. 2015 Feb;11(2):102-12. doi: 10.1038/nrneph.2014.232. Epub 2014 Dec 23. Nat Rev Nephrol. 2015. PMID: 25536396 Review.

6

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.

Clissold RL, Clarke HC, Spasic-Boskovic O, Brugger K, Abbs S, Bingham C, Shaw-Smith C. Clissold RL, et al. Among authors: bingham c. BMC Nephrol. 2017 Jul 12;18(1):234. doi: 10.1186/s12882-017-0631-5. BMC Nephrol. 2017. PMID: 28701203 Free PMC article.

7

Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion.

Clissold RL, Ashfield B, Burrage J, Hannon E, Bingham C, Mill J, Hattersley A, Dempster EL. Clissold RL, et al. Among authors: bingham c. Clin Epigenetics. 2018 Jul 18;10(1):97. doi: 10.1186/s13148-018-0530-z. Clin Epigenetics. 2018. PMID: 30021660 Free PMC article.

8

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: bingham c. Nephrol Dial Transplant. 2008 Feb;23(2):627-35. doi: 10.1093/ndt/gfm603. Epub 2007 Oct 30. Nephrol Dial Transplant. 2008. PMID: 17971380

9

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C. Clissold RL, et al. Among authors: bingham c. Kidney Int. 2016 Jul;90(1):203-11. doi: 10.1016/j.kint.2016.03.027. Epub 2016 May 24. Kidney Int. 2016. PMID: 27234567 Free PMC article.

10

Factors determining penetrance in familial atypical haemolytic uraemic syndrome.

Sansbury FH, Cordell HJ, Bingham C, Bromilow G, Nicholls A, Powell R, Shields B, Smyth L, Warwicker P, Strain L, Wilson V, Goodship JA, Goodship TH, Turnpenny PD. Sansbury FH, et al. Among authors: bingham c. J Med Genet. 2014 Nov;51(11):756-64. doi: 10.1136/jmedgenet-2014-102498. Epub 2014 Sep 26. J Med Genet. 2014. PMID: 25261570

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