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Items: 20

1.

Correction: Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment.

Chaudhury S, Brookes KJ, Patel T, Fallows A, Guetta-Baranes T, Turton JC, Guerreiro R, Bras J, Hardy J, Francis PT, Croucher R, Holmes C, Morgan K.

Transl Psychiatry. 2019 Jun 11;9(1):167. doi: 10.1038/s41398-019-0503-9.

PMID:
31186402
2.

Alzheimer's disease polygenic risk score as a predictor of conversion from mild-cognitive impairment.

Chaudhury S, Brookes KJ, Patel T, Fallows A, Guetta-Baranes T, Turton JC, Guerreiro R, Bras J, Hardy J, Francis PT, Croucher R, Holmes C, Morgan K, Thomas AJ.

Transl Psychiatry. 2019 May 24;9(1):154. doi: 10.1038/s41398-019-0485-7. Erratum in: Transl Psychiatry. 2019 Jun 11;9(1):167.

3.

Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer's disease.

Chappell S, Patel T, Guetta-Baranes T, Sang F, Francis PT, Morgan K, Brookes KJ.

BMC Res Notes. 2018 Sep 4;11(1):646. doi: 10.1186/s13104-018-3732-8.

4.

Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort.

Brookes KJ, McConnell G, Williams K, Chaudhury S, Madhan G, Patel T, Turley C, Guetta-Baranes T, Bras J, Guerreiro R, Hardy J, Francis PT, Morgan K.

J Alzheimers Dis. 2018;64(2):355-362. doi: 10.3233/JAD-180191.

PMID:
29914034
5.

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.

Kucukkilic E, Brookes K, Barber I, Guetta-Baranes T; ARUK Consortium, Morgan K, Hollox EJ.

Hum Genet. 2018 Apr;137(4):305-314. doi: 10.1007/s00439-018-1883-2. Epub 2018 Apr 19.

6.

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Patel T, Brookes KJ, Turton J, Chaudhury S, Guetta-Baranes T, Guerreiro R, Bras J, Hernandez D, Singleton A, Francis PT, Hardy J, Morgan K.

Neuropathol Appl Neurobiol. 2018 Aug;44(5):506-521. doi: 10.1111/nan.12452. Epub 2018 Jan 7.

7.

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer's disease.

Chaudhury S, Patel T, Barber IS, Guetta-Baranes T, Brookes KJ, Chappell S, Turton J, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann D; ARUK Consortium, Morgan K.

Neurobiol Aging. 2018 Feb;62:244.e1-244.e8. doi: 10.1016/j.neurobiolaging.2017.09.035. Epub 2017 Oct 10.

8.

Methylation Profiling RIN3 and MEF2C Identifies Epigenetic Marks Associated with Sporadic Early Onset Alzheimer's Disease.

Boden KA, Barber IS, Clement N, Patel T, Guetta-Baranes T, Brookes KJ, Chappell S, Craigon J, Chapman NH; ARUK Consortium, Morgan K, Seymour GB, Bottley A.

J Alzheimers Dis Rep. 2017 Sep 13;1(1):97-108. doi: 10.3233/ADR-170015.

9.

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

Barber IS, Braae A, Clement N, Patel T, Guetta-Baranes T, Brookes K, Medway C, Chappell S, Guerreiro R, Bras J, Hernandez D, Singleton A, Hardy J, Mann DM; ARUK Consortium, Morgan K.

Neurobiol Aging. 2017 Jan;49:215.e1-215.e8. doi: 10.1016/j.neurobiolaging.2016.09.008. Epub 2016 Sep 23.

10.

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Jackson VE, Ntalla I, Sayers I, Morris R, Whincup P, Casas JP, Amuzu A, Choi M, Dale C, Kumari M, Engmann J, Kalsheker N, Chappell S, Guetta-Baranes T, McKeever TM, Palmer CN, Tavendale R, Holloway JW, Sayer AA, Dennison EM, Cooper C, Bafadhel M, Barker B, Brightling C, Bolton CE, John ME, Parker SG, Moffat MF, Wardlaw AJ, Connolly MJ, Porteous DJ, Smith BH, Padmanabhan S, Hocking L, Stirrups KE, Deloukas P, Strachan DP, Hall IP, Tobin MD, Wain LV.

Thorax. 2016 Jun;71(6):501-9. doi: 10.1136/thoraxjnl-2015-207876. Epub 2016 Feb 25.

11.

Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease.

Barber IS, García-Cárdenas JM, Sakdapanichkul C, Deacon C, Zapata Erazo G, Guerreiro R, Bras J, Hernandez D, Singleton A, Guetta-Baranes T, Braae A, Clement N, Patel T, Brookes K, Medway C, Chappell S, Mann DM; ARUK Consortium, Morgan K.

Neurobiol Aging. 2016 Mar;39:220.e1-7. doi: 10.1016/j.neurobiolaging.2015.12.011. Epub 2015 Dec 29.

12.

Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma.

Wain LV, Odenthal-Hesse L, Abujaber R, Sayers I, Beardsmore C, Gaillard EA, Chappell S, Dogaru CM, McKeever T, Guetta-Baranes T, Kalsheker N, Kuehni CE, Hall IP, Tobin MD, Hollox EJ.

PLoS One. 2014 Jan 3;9(1):e84192. doi: 10.1371/journal.pone.0084192. eCollection 2014.

13.

The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study.

Chappell SL, Daly L, Lotya J, Alsaegh A, Guetta-Baranes T, Roca J, Rabinovich R, Morgan K, Millar AB, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

BMC Med Genet. 2011 Feb 14;12:24. doi: 10.1186/1471-2350-12-24.

14.

Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.

Haq I, Chappell S, Johnson SR, Lotya J, Daly L, Morgan K, Guetta-Baranes T, Roca J, Rabinovich R, Millar AB, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

BMC Med Genet. 2010 Jan 15;11:7. doi: 10.1186/1471-2350-11-7.

15.

Polymorphism in the endoplasmic reticulum mannosidase I (MAN1B1) gene is not associated with liver disease in individuals homozygous for the Z variant of the alpha1-antitrypsin protease inhibitor (PiZZ individuals).

Chappell S, Guetta-Baranés T, Hadzic N, Stockley R, Kalsheker N.

Hepatology. 2009 Oct;50(4):1315; author reply 1315-6. doi: 10.1002/hep.23170. No abstract available.

PMID:
19739260
16.

The alpha-1-antitrypsin gene promoter in human A549 lung derived cells, and a novel transcription initiation site.

Morgan K, Chappell S, Guetta-Baranés T, Morley S, Kalsheker N.

Int J Biochem Cell Biol. 2009 May;41(5):1157-64. doi: 10.1016/j.biocel.2008.10.020. Epub 2008 Oct 28.

PMID:
19010440
17.

Genetic variants of microsomal epoxide hydrolase and glutamate-cysteine ligase in COPD.

Chappell S, Daly L, Morgan K, Guetta-Baranes T, Roca J, Rabinovich R, Lotya J, Millar AB, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra PS, Miniati M, Monti S, O'Connor CM, Kalsheker N.

Eur Respir J. 2008 Oct;32(4):931-7. doi: 10.1183/09031936.00065308. Epub 2008 Jul 9.

18.

A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease.

Chappell S, Hadzic N, Stockley R, Guetta-Baranes T, Morgan K, Kalsheker N.

Hepatology. 2008 Jan;47(1):127-32.

PMID:
17972336
19.

Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.

Chappell S, Daly L, Morgan K, Guetta Baranes T, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra P, Miniati M, Monti S, O'Connor CM, Kalsheker N.

Hum Mutat. 2006 Jan;27(1):103-9.

PMID:
16278826
20.

Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients.

Chappell S, Guetta-Baranés T, Batowski K, Yiannakis E, Morgan K, O'Connor C, MacNee W, Kalsheker N.

Hum Mutat. 2004 Dec;24(6):535-6.

PMID:
15532029

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