Lench N - Search Results

1

Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.

Khamis A, Palmen J, Lench N, Taylor A, Badmus E, Leigh S, Humphries SE. Khamis A, et al. Among authors: lench n. Eur J Hum Genet. 2015 Jun;23(6):790-5. doi: 10.1038/ejhg.2014.199. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248394 Free PMC article.

2

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, Yeats C, Orengo CA, Martin AC, Celli J, Humphries SE. Usifo E, et al. Among authors: lench n. Ann Hum Genet. 2012 Sep;76(5):387-401. doi: 10.1111/j.1469-1809.2012.00724.x. Ann Hum Genet. 2012. PMID: 22881376

3

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M; Simon Broome Consortium; Bertolini S, Calandra S, Descamps OS, Graham CA, Hegele RA, Karpe F, Durst R, Leitersdorf E, Lench N, Nair DR, Soran H, Van Bockxmeer FM; UK10K Consortium; Humphries SE. Futema M, et al. Among authors: lench n. J Med Genet. 2014 Aug;51(8):537-44. doi: 10.1136/jmedgenet-2014-102405. Epub 2014 Jul 1. J Med Genet. 2014. PMID: 24987033 Free PMC article.

4

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.

Talmud PJ, Shah S, Whittall R, Futema M, Howard P, Cooper JA, Harrison SC, Li K, Drenos F, Karpe F, Neil HA, Descamps OS, Langenberg C, Lench N, Kivimaki M, Whittaker J, Hingorani AD, Kumari M, Humphries SE. Talmud PJ, et al. Among authors: lench n. Lancet. 2013 Apr 13;381(9874):1293-301. doi: 10.1016/S0140-6736(12)62127-8. Epub 2013 Feb 22. Lancet. 2013. PMID: 23433573 Free article.

5

Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors.

van Heel DA, Udalova IA, De Silva AP, McGovern DP, Kinouchi Y, Hull J, Lench NJ, Cardon LR, Carey AH, Jewell DP, Kwiatkowski D. van Heel DA, et al. Hum Mol Genet. 2002 May 15;11(11):1281-9. doi: 10.1093/hmg/11.11.1281. Hum Mol Genet. 2002. PMID: 12019209

6

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

Kammermeier J, Drury S, James CT, Dziubak R, Ocaka L, Elawad M, Beales P, Lench N, Uhlig HH, Bacchelli C, Shah N. Kammermeier J, et al. Among authors: lench n. J Med Genet. 2014 Nov;51(11):748-55. doi: 10.1136/jmedgenet-2014-102624. Epub 2014 Sep 5. J Med Genet. 2014. PMID: 25194001

7

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.

Sallah SR, Sergouniotis PI, Barton S, Ramsden S, Taylor RL, Safadi A, Kabir M, Ellingford JM, Lench N, Lovell SC, Black GCM. Sallah SR, et al. Among authors: lench n. Eur J Hum Genet. 2020 Sep;28(9):1274-1282. doi: 10.1038/s41431-020-0623-y. Epub 2020 Apr 20. Eur J Hum Genet. 2020. PMID: 32313206 Free PMC article.

8

Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus.

Stanier P, Estivill X, Lench N, Williamson R. Stanier P, et al. Among authors: lench n. Hum Genet. 1988 Nov;80(3):309-10. doi: 10.1007/BF01790107. Hum Genet. 1988. PMID: 2461342

9

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Ishida M, Cullup T, Boustred C, James C, Docker J, English C; GOSgene; Lench N, Copp AJ, Moore GE, Greene NDE, Stanier P. Ishida M, et al. Among authors: lench n. Clin Genet. 2018 Apr;93(4):870-879. doi: 10.1111/cge.13189. Epub 2018 Feb 11. Clin Genet. 2018. PMID: 29205322 Free PMC article.

10

Extent and distribution of linkage disequilibrium in three genomic regions.

Abecasis GR, Noguchi E, Heinzmann A, Traherne JA, Bhattacharyya S, Leaves NI, Anderson GG, Zhang Y, Lench NJ, Carey A, Cardon LR, Moffatt MF, Cookson WO. Abecasis GR, et al. Among authors: lench nj. Am J Hum Genet. 2001 Jan;68(1):191-197. doi: 10.1086/316944. Epub 2000 Nov 13. Am J Hum Genet. 2001. PMID: 11083947 Free PMC article.

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