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Items: 1 to 50 of 67

1.

Cohort profile: Extended Cohort for E-health, Environment and DNA (EXCEED).

John C, Reeve NF, Free RC, Williams AT, Ntalla I, Farmaki AE, Bethea J, Barton LM, Shrine N, Batini C, Packer R, Terry S, Hargadon B, Wang Q, Melbourne CA, Adams EL, Bee CE, Harrington K, Miola J, Brunskill NJ, Brightling CE, Barwell J, Wallace SE, Hsu R, Shepherd DJ, Hollox EJ, Wain LV, Tobin MD.

Int J Epidemiol. 2019 Oct 1;48(5):1734. doi: 10.1093/ije/dyz175. No abstract available.

PMID:
31365084
2.

Cohort Profile: Extended Cohort for E-health, Environment and DNA (EXCEED).

John C, Reeve NF, Free RC, Williams AT, Ntalla I, Farmaki AE, Bethea J, Barton LM, Shrine N, Batini C, Packer R, Terry S, Hargadon B, Wang Q, Melbourne CA, Adams EL, Bee CE, Harrington K, Miola J, Brunskill NJ, Brightling CE, Barwell J, Wallace SE, Hsu R, Shepherd DJ, Hollox EJ, Wain LV, Tobin MD.

Int J Epidemiol. 2019 Jun 1;48(3):678-679j. doi: 10.1093/ije/dyz073. No abstract available.

3.

Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A.

Zuccherato LW, Elói-Santos SM, Jardim LL, Camelo RM, Chaves DG, Souza RP, Hollox EJ, Rezende SM.

Haematologica. 2019 Nov;104(11):e527-e529. doi: 10.3324/haematol.2019.220608. Epub 2019 Mar 14. No abstract available.

4.

The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels.

Algady W, Louzada S, Carpenter D, Brajer P, Färnert A, Rooth I, Ngasala B, Yang F, Shaw MA, Hollox EJ.

Am J Hum Genet. 2018 Nov 1;103(5):769-776. doi: 10.1016/j.ajhg.2018.10.008.

5.

Human CCL3L1 copy number variation, gene expression, and the role of the CCL3L1-CCR5 axis in lung function.

Adewoye AB, Shrine N, Odenthal-Hesse L, Welsh S, Malarstig A, Jelinsky S, Kilty I, Tobin MD, Hollox EJ, Wain LV.

Wellcome Open Res. 2018 Feb 21;3:13. doi: 10.12688/wellcomeopenres.13902.2. eCollection 2018.

6.

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.

7.

Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy.

James CP, Bajaj-Elliott M, Abujaber R, Forya F, Klein N, David AL, Hollox EJ, Peebles DM.

Eur J Hum Genet. 2018 Mar;26(3):434-439. doi: 10.1038/s41431-017-0061-7. Epub 2018 Jan 24.

8.

Population genetics of immune-related multilocus copy number variation in Native Americans.

Zuccherato LW, Schneider S, Tarazona-Santos E, Hardwick RJ, Berg DE, Bogle H, Gouveia MH, Machado LR, Machado M, Rodrigues-Soares F, Soares-Souza GB, Togni DL, Zamudio R, Gilman RH, Duarte D, Hollox EJ, Rodrigues MR.

J R Soc Interface. 2017 Mar;14(128). pii: 20170057. doi: 10.1098/rsif.2017.0057.

9.

No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS.

Abujaber R, Shea PR, McLaren PJ, Lakhi S, Gilmour J, Allen S, Fellay J, Hollox EJ; IAVI Africa HIV Prevention Partnership, Swiss HIV Cohort Study.

Ann Hum Genet. 2017 Jan;81(1):27-34. doi: 10.1111/ahg.12182.

10.

Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis.

Rahbari R, Zuccherato LW, Tischler G, Chihota B, Ozturk H, Saleem S, Tarazona-Santos E, Machado LR, Hollox EJ.

Hum Mutat. 2017 Apr;38(4):390-399. doi: 10.1002/humu.23159. Epub 2017 Feb 15.

11.

Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT).

Hollox EJ.

Methods Mol Biol. 2017;1492:127-146. Review.

PMID:
27822860
12.

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

Barber JC, Sharp AJ, Hollox EJ, Tyson C.

Eur J Hum Genet. 2016 Jan;25(1):8-9. doi: 10.1038/ejhg.2016.104. Epub 2016 Aug 3. No abstract available.

13.

Analysis of copy number variation at DMBT1 and age-related macular degeneration.

Polley S, Cipriani V, Khan JC, Shahid H, Moore AT, Yates JR, Hollox EJ.

BMC Med Genet. 2016 Jul 15;17(1):44. doi: 10.1186/s12881-016-0311-5.

14.

Recurrent mutation at the classical haptoglobin structural polymorphism.

Hollox EJ, Wain LV.

Nat Genet. 2016 Apr;48(4):347-8. doi: 10.1038/ng.3534.

PMID:
27023774
15.

Correction: Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

Hargreaves CE, Iriyama C, Rose-Zerilli MJ, Nagelkerke SQ, Hussain K, Ganderton R, Lee C, Machado LR, Hollox EJ, Parker H, Latham KV, Kuijpers TW, Potter KN, Coupland SE, Davies A, Stackpole M, Oates M, Pettitt AR, Glennie MJ, Cragg MS, Strefford JC.

PLoS One. 2016 Mar 23;11(3):e0145040. doi: 10.1371/journal.pone.0145040. eCollection 2016. No abstract available.

16.

Copy number variation of scavenger-receptor cysteine-rich domains within DMBT1 and Crohn's disease.

Polley S, Prescott N, Nimmo E, Veal C, Vind I, Munkholm P, Fode P, Mansfield J, Skyt Andersen P, Satsangi J, G Mathew C, Hollox EJ.

Eur J Hum Genet. 2016 Aug;24(9):1294-300. doi: 10.1038/ejhg.2015.280. Epub 2016 Jan 27.

17.

Evaluation of High-Throughput Genomic Assays for the Fc Gamma Receptor Locus.

Hargreaves CE, Iriyama C, Rose-Zerilli MJ, Nagelkerke SQ, Hussain K, Ganderton R, Lee C, Machado LR, Hollox EJ, Parker H, Latham KV, Kuijpers TW, Potter KN, Coupland SE, Davies A, Stackpole M, Oates M, Pettitt AR, Glennie MJ, Cragg MS, Strefford JC.

PLoS One. 2015 Nov 6;10(11):e0142379. doi: 10.1371/journal.pone.0142379. eCollection 2015. Erratum in: PLoS One. 2016;11(3):e0145040.

18.

Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data.

Forni D, Martin D, Abujaber R, Sharp AJ, Sironi M, Hollox EJ.

BMC Genomics. 2015 Nov 2;16:891. doi: 10.1186/s12864-015-2123-y.

19.

Fcγ receptors: genetic variation, function, and disease.

Hargreaves CE, Rose-Zerilli MJ, Machado LR, Iriyama C, Hollox EJ, Cragg MS, Strefford JC.

Immunol Rev. 2015 Nov;268(1):6-24. doi: 10.1111/imr.12341. Review.

PMID:
26497510
20.

Immunocytochemical detection of ERG expression in exfoliated urinary cells identifies with high specificity patients with prostate cancer.

Pal RP, Kockelbergh RC, Pringle JH, Cresswell L, Hew R, Dormer JP, Cooper C, Mellon JK, Barwell JG, Hollox EJ.

BJU Int. 2016 Apr;117(4):686-96. doi: 10.1111/bju.13184. Epub 2015 Jul 29.

21.

Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy.

Polley S, Louzada S, Forni D, Sironi M, Balaskas T, Hains DS, Yang F, Hollox EJ.

Proc Natl Acad Sci U S A. 2015 Apr 21;112(16):5105-10. doi: 10.1073/pnas.1416531112. Epub 2015 Apr 6.

22.

A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.

Haridan US, Mokhtar U, Machado LR, Abdul Aziz AT, Shueb RH, Zaid M, Sim B, Mustafa M, Nik Yusof NK, Lee CK, Abu Bakar S, AbuBakar S, Hollox EJ, Boon Peng H.

PLoS One. 2015 Jan 16;10(1):e0116791. doi: 10.1371/journal.pone.0116791. eCollection 2015.

23.

Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene.

Ottolini B, Hornsby MJ, Abujaber R, MacArthur JA, Badge RM, Schwarzacher T, Albertson DG, Bevins CL, Solnick JV, Hollox EJ.

Genome Biol Evol. 2014 Oct 27;6(11):3025-38. doi: 10.1093/gbe/evu236.

24.

Human gene copy number variation and infectious disease.

Hollox EJ, Hoh BP.

Hum Genet. 2014 Oct;133(10):1217-33. doi: 10.1007/s00439-014-1457-x. Epub 2014 Jun 5. Review.

PMID:
25110110
25.

Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children.

Jones EA, Kananurak A, Bevins CL, Hollox EJ, Bakaletz LO.

PLoS One. 2014 May 27;9(5):e98269. doi: 10.1371/journal.pone.0098269. eCollection 2014.

26.

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

Wain LV, Sayers I, Soler Artigas M, Portelli MA, Zeggini E, Obeidat M, Sin DD, Bossé Y, Nickle D, Brandsma CA, Malarstig A, Vangjeli C, Jelinsky SA, John S, Kilty I, McKeever T, Shrine NR, Cook JP, Patel S, Spector TD, Hollox EJ, Hall IP, Tobin MD.

PLoS Genet. 2014 May 1;10(5):e1004314. doi: 10.1371/journal.pgen.1004314. eCollection 2014 May.

27.

β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease.

Vittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; REGISTRY investigators of the European Huntington’s Disease Network.

J Huntingtons Dis. 2013 Mar 27;2(1):107-124.

28.

Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease.

Vittori A, Breda C, Repici M, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; REGISTRY investigators of the European Huntington's Disease Network.

Hum Mol Genet. 2014 Jun 15;23(12):3129-37. doi: 10.1093/hmg/ddu022. Epub 2014 Jan 22.

29.

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.

30.

Copy number variation of Fc gamma receptor genes in HIV-infected and HIV-tuberculosis co-infected individuals in sub-Saharan Africa.

Machado LR, Bowdrey J, Ngaimisi E, Habtewold A, Minzi O, Makonnen E, Yimer G, Amogne W, Mugusi S, Janabi M, Aderaye G, Mugusi F, Viskaduraki M, Aklillu E, Hollox EJ.

PLoS One. 2013 Nov 8;8(11):e78165. doi: 10.1371/journal.pone.0078165. eCollection 2013.

31.

CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans.

Aklillu E, Odenthal-Hesse L, Bowdrey J, Habtewold A, Ngaimisi E, Yimer G, Amogne W, Mugusi S, Minzi O, Makonnen E, Janabi M, Mugusi F, Aderaye G, Hardwick R, Fu B, Viskaduraki M, Yang F, Hollox EJ.

BMC Infect Dis. 2013 Nov 12;13:536. doi: 10.1186/1471-2334-13-536.

32.

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

Tyson C, Sharp AJ, Hrynchak M, Yong SL, Hollox EJ, Warburton P, Barber JC.

Eur J Hum Genet. 2014 Apr;22(4):458-63. doi: 10.1038/ejhg.2013.185. Epub 2013 Sep 18.

33.

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis.

Hardwick RJ, Ménard A, Sironi M, Milet J, Garcia A, Sese C, Yang F, Fu B, Courtin D, Hollox EJ.

Hum Genet. 2014 Jan;133(1):69-83. doi: 10.1007/s00439-013-1352-x. Epub 2013 Sep 5.

34.

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation.

Veal CD, Xu H, Reekie K, Free R, Hardwick RJ, McVey D, Brookes AJ, Hollox EJ, Talbot CJ.

Bioinformatics. 2013 Aug 15;29(16):1997-2003. doi: 10.1093/bioinformatics/btt330. Epub 2013 Jun 6.

35.

β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease.

Vittori A, Orth M, Roos RA, Outeiro TF, Giorgini F, Hollox EJ; Registry investigators of the European Huntington's Disease Network.

J Huntingtons Dis. 2013;2(1):107-24. doi: 10.3233/JHD-130002.

PMID:
25057107
36.

β-defensin genomic copy number is associated with HIV load and immune reconstitution in sub-saharan Africans.

Hardwick RJ, Amogne W, Mugusi S, Yimer G, Ngaimisi E, Habtewold A, Minzi O, Makonnen E, Janabi M, Machado LR, Viskaduraki M, Mugusi F, Aderaye G, Lindquist L, Hollox EJ, Aklillu E.

J Infect Dis. 2012 Oct 1;206(7):1012-9. doi: 10.1093/infdis/jis448. Epub 2012 Jul 26.

PMID:
22837491
37.

Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.

Machado LR, Hardwick RJ, Bowdrey J, Bogle H, Knowles TJ, Sironi M, Hollox EJ.

Am J Hum Genet. 2012 Jun 8;90(6):973-85. doi: 10.1016/j.ajhg.2012.04.018. Epub 2012 May 17.

38.

Evolutionary genetics of the human Rh blood group system.

Perry GH, Xue Y, Smith RS, Meyer WK, Calışkan M, Yanez-Cuna O, Lee AS, Gutiérrez-Arcelus M, Ober C, Hollox EJ, Tyler-Smith C, Lee C.

Hum Genet. 2012 Jul;131(7):1205-16. doi: 10.1007/s00439-012-1147-5. Epub 2012 Feb 25.

39.

The challenges of studying complex and dynamic regions of the human genome.

Hollox EJ.

Methods Mol Biol. 2012;838:187-207. doi: 10.1007/978-1-61779-507-7_9. Review.

PMID:
22228013
40.

A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.

Tollner TL, Venners SA, Hollox EJ, Yudin AI, Liu X, Tang G, Xing H, Kays RJ, Lau T, Overstreet JW, Xu X, Bevins CL, Cherr GN.

Sci Transl Med. 2011 Jul 20;3(92):92ra65. doi: 10.1126/scitranslmed.3002289. Erratum in: Sci Transl Med. 2011 Aug 3;(94):94er5. Sci Transl Med. 2014 May 14;6(236):236er3.

41.

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia.

Hardwick RJ, Machado LR, Zuccherato LW, Antolinos S, Xue Y, Shawa N, Gilman RH, Cabrera L, Berg DE, Tyler-Smith C, Kelly P, Tarazona-Santos E, Hollox EJ.

Hum Mutat. 2011 Jul;32(7):743-50. doi: 10.1002/humu.21491. Epub 2011 May 5.

42.

Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.

Fode P, Jespersgaard C, Hardwick RJ, Bogle H, Theisen M, Dodoo D, Lenicek M, Vitek L, Vieira A, Freitas J, Andersen PS, Hollox EJ.

PLoS One. 2011 Feb 22;6(2):e16768. doi: 10.1371/journal.pone.0016768.

43.

Assessment of complement C4 gene copy number using the paralog ratio test.

Fernando MM, Boteva L, Morris DL, Zhou B, Wu YL, Lokki ML, Yu CY, Rioux JD, Hollox EJ, Vyse TJ.

Hum Mutat. 2010 Jul;31(7):866-74. doi: 10.1002/humu.21259.

44.

Beta-defensins and Crohn's disease: confusion from counting copies.

Hollox EJ.

Am J Gastroenterol. 2010 Feb;105(2):360-2. doi: 10.1038/ajg.2009.573.

PMID:
20139874
45.

Constitutional trisomy 8 and Behçet syndrome.

Becker K, Fitzgerald O, Green AJ, Keogan M, Newbury-Ecob R, Greenhalgh L, Withers S, Hollox EJ, Aldred PM, Armour JA.

Am J Med Genet A. 2009 May;149A(5):982-6. doi: 10.1002/ajmg.a.32756.

PMID:
19353586
46.

Beta-defensin-2 protein is a serum biomarker for disease activity in psoriasis and reaches biologically relevant concentrations in lesional skin.

Jansen PA, Rodijk-Olthuis D, Hollox EJ, Kamsteeg M, Tjabringa GS, de Jongh GJ, van Vlijmen-Willems IM, Bergboer JG, van Rossum MM, de Jong EM, den Heijer M, Evers AW, Bergers M, Armour JA, Zeeuwen PL, Schalkwijk J.

PLoS One. 2009;4(3):e4725. doi: 10.1371/journal.pone.0004725. Epub 2009 Mar 6.

47.

An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus.

Hollox EJ, Detering JC, Dehnugara T.

Hum Mutat. 2009 Mar;30(3):477-84. doi: 10.1002/humu.20911.

48.

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

Abu Bakar S, Hollox EJ, Armour JA.

Proc Natl Acad Sci U S A. 2009 Jan 20;106(3):853-8. doi: 10.1073/pnas.0809073106. Epub 2009 Jan 8.

49.

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1.

Hollox EJ, Barber JC, Brookes AJ, Armour JA.

Genome Res. 2008 Nov;18(11):1686-97. doi: 10.1101/gr.080945.108. Review.

50.

Directional and balancing selection in human beta-defensins.

Hollox EJ, Armour JA.

BMC Evol Biol. 2008 Apr 16;8:113. doi: 10.1186/1471-2148-8-113.

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