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Sub-Nanometer Thick Gold Nanosheets as Highly Efficient Catalysts.

Ye S, Brown AP, Stammers AC, Thomson NH, Wen J, Roach L, Bushby RJ, Coletta PL, Critchley K, Connell SD, Markham AF, Brydson R, Evans SD.

Adv Sci (Weinh). 2019 Aug 6;6(21):1900911. doi: 10.1002/advs.201900911. eCollection 2019 Nov 6.


Development of orthotopic tumour models using ultrasound-guided intrahepatic injection.

McVeigh LE, Wijetunga I, Ingram N, Marston G, Prasad R, Markham AF, Coletta PL.

Sci Rep. 2019 Jul 9;9(1):9904. doi: 10.1038/s41598-019-46410-6.


Neutrophil Gelatinase-associated Lipocalin as a Theragnostic Marker in Perihilar Cholangiocarcinoma.

Nair A, Ingram N, Verghese ET, Wijetunga I, Markham AF, Wyatt J, Prasad KR, Coletta PL.

Anticancer Res. 2018 Dec;38(12):6737-6744. doi: 10.21873/anticanres.13043.


Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes.

Ye S, Wheeler MC, McLaughlan JR, Tamang A, Diggle CP, Cespedes O, Markham AF, Coletta PL, Evans SD.

Int J Mol Sci. 2018 Aug 8;19(8). pii: E2327. doi: 10.3390/ijms19082327.


Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Watson CM, Camm N, Crinnion LA, Clokie S, Robinson RL, Adlard J, Charlton R, Markham AF, Carr IM, Bonthron DT.

Mol Diagn Ther. 2017 Dec;21(6):685-692. doi: 10.1007/s40291-017-0304-x.


Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Watson CM, Camm N, Crinnion LA, Antanaviciute A, Adlard J, Markham AF, Carr IM, Charlton R, Bonthron DT.

J Mol Diagn. 2017 Nov;19(6):933-940. doi: 10.1016/j.jmoldx.2017.08.002. Epub 2017 Sep 1.


Paracrine cyclooxygenase-2 activity by macrophages drives colorectal adenoma progression in the Apc Min/+ mouse model of intestinal tumorigenesis.

Hull MA, Cuthbert RJ, Ko CWS, Scott DJ, Cartwright EJ, Hawcroft G, Perry SL, Ingram N, Carr IM, Markham AF, Bonifer C, Coletta PL.

Sci Rep. 2017 Jul 20;7(1):6074. doi: 10.1038/s41598-017-06253-5.


m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data.

Antanaviciute A, Baquero-Perez B, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Whitehouse A, Carr IM.

RNA. 2017 Oct;23(10):1493-1501. doi: 10.1261/rna.058206.116. Epub 2017 Jul 19.


Evaluation of lipid-stabilised tripropionin nanodroplets as a delivery route for combretastatin A4.

Mico V, Charalambous A, Peyman SA, Abou-Saleh RH, Markham AF, Coletta PL, Evans SD.

Int J Pharm. 2017 Jun 30;526(1-2):547-555. doi: 10.1016/j.ijpharm.2017.05.009. Epub 2017 May 8.


A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.

Diggle CP, Martinez-Garay I, Molnar Z, Brinkworth MH, White E, Fowler E, Hughes R, Hayward BE, Carr IM, Watson CM, Crinnion L, Asipu A, Woodman B, Coletta PL, Markham AF, Dear TN, Bonthron DT, Peckham M, Morrison EE, Sheridan E.

PLoS One. 2017 Apr 7;12(4):e0174264. doi: 10.1371/journal.pone.0174264. eCollection 2017.


The influence of intercalating perfluorohexane into lipid shells on nano and microbubble stability.

Abou-Saleh RH, Peyman SA, Johnson BR, Marston G, Ingram N, Bushby R, Coletta PL, Markham AF, Evans SD.

Soft Matter. 2016 Sep 14;12(34):7223-30. doi: 10.1039/c6sm00956e. Epub 2016 Aug 8.


One-step fabrication of hollow-channel gold nanoflowers with excellent catalytic performance and large single-particle SERS activity.

Ye S, Benz F, Wheeler MC, Oram J, Baumberg JJ, Cespedes O, Christenson HK, Coletta PL, Jeuken LJ, Markham AF, Critchley K, Evans SD.

Nanoscale. 2016 Aug 11;8(32):14932-42. doi: 10.1039/c6nr04045d.


Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ.

Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015.


Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C.

Am J Hum Genet. 2016 Mar 3;98(3):592. doi: 10.1016/j.ajhg.2016.02.017. Epub 2016 Mar 3. No abstract available.


On-chip preparation of nanoscale contrast agents towards high-resolution ultrasound imaging.

Peyman SA, McLaughlan JR, Abou-Saleh RH, Marston G, Johnson BR, Freear S, Coletta PL, Markham AF, Evans SD.

Lab Chip. 2016 Feb 21;16(4):679-87. doi: 10.1039/c5lc01394a. Epub 2015 Dec 22.


Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment.

Giancane G, Diggle CP, Legger EG, Tekstra J, Prakken B, Brenkman AB, Carr IM, Markham AF, Bonthron DT, Wulffraat N.

J Rheumatol. 2015 Nov;42(11):2211-4. doi: 10.3899/jrheum.150364. No abstract available.


HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.

Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT.

J Med Genet. 2015 Dec;52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30.


OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM.

Bioinformatics. 2015 Dec 1;31(23):3822-9. doi: 10.1093/bioinformatics/btv473. Epub 2015 Aug 12.


Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM.

Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22.


GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.

Antanaviciute A, Daly C, Crinnion LA, Markham AF, Watson CM, Bonthron DT, Carr IM.

Bioinformatics. 2015 Aug 15;31(16):2728-35. doi: 10.1093/bioinformatics/btv196. Epub 2015 Apr 9.


HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P.

PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep.


Detection of somatic mutations in tumors using unaligned clonal sequencing data.

Sutton KM, Crinnion LA, Wallace D, Harrison S, Roberts P, Watson CM, Markham AF, Bonthron DT, Quirke P, Carr IM.

Lab Invest. 2014 Oct;94(10):1173-83. doi: 10.1038/labinvest.2014.96. Epub 2014 Jul 28.


An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas.

Touqan N, Diggle CP, Verghese ET, Perry S, Horgan K, Merchant W, Anwar R, Markham AF, Carr IM, Achuthan R.

BMC Clin Pathol. 2013 Dec 13;13(1):32. doi: 10.1186/1472-6890-13-32.


The use of high-frequency ultrasound imaging and biofluorescence for in vivo evaluation of gene therapy vectors.

Ingram N, Macnab SA, Marston G, Scott N, Carr IM, Markham AF, Whitehouse A, Coletta PL.

BMC Med Imaging. 2013 Nov 12;13:35. doi: 10.1186/1471-2342-13-35.


Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.

Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT.

Hum Mutat. 2013 Jul;34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29.


Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.

Ingham D, Diggle CP, Berry I, Bristow CA, Hayward BE, Rahman N, Markham AF, Sheridan EG, Bonthron DT, Carr IM.

Hum Mutat. 2013 Jun;34(6):847-52. doi: 10.1002/humu.22311. Epub 2013 Apr 2.


Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS.

Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22.


Expanding 3D geometry for enhanced on-chip microbubble production and single step formation of liposome modified microbubbles.

Peyman SA, Abou-Saleh RH, McLaughlan JR, Ingram N, Johnson BR, Critchley K, Freear S, Evans JA, Markham AF, Coletta PL, Evans SD.

Lab Chip. 2012 Nov 7;12(21):4544-52. doi: 10.1039/c2lc40634a.


Mutation detection by clonal sequencing of PCR amplicons and grouped read typing is applicable to clinical diagnostics.

Chambers PA, Stead LF, Morgan JE, Carr IM, Sutton KM, Watson CM, Crowe V, Dickinson H, Roberts P, Mulatero C, Seymour M, Markham AF, Waring PM, Quirke P, Taylor GR.

Hum Mutat. 2013 Jan;34(1):248-54. doi: 10.1002/humu.22207. Epub 2012 Oct 11.


Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

Carr IM, Diggle CP, Khan K, Inglehearn C, McKibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SD, Ali M.

PLoS One. 2012;7(8):e43466. doi: 10.1371/journal.pone.0043466. Epub 2012 Aug 17.


Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis.

Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT.

Hum Mutat. 2012 Aug;33(8):1175-81. doi: 10.1002/humu.22111. Epub 2012 May 29.


High-frequency ultrasound for in vivo measurement of colon wall thickness in mice.

Abdelrahman MA, Marston G, Hull MA, Markham AF, Jones PF, Evans JA, Coletta PL.

Ultrasound Med Biol. 2012 Mar;38(3):432-42. doi: 10.1016/j.ultrasmedbio.2011.12.011. Epub 2012 Jan 21.


Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).

Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA.

Nat Genet. 2011 Nov 20;43(12):1189-92. doi: 10.1038/ng.995.


Identification of autosomal recessive disease loci using out-bred nuclear families.

Carr IM, Diggle CP, Touqan N, Anwar R, Sheridan EG, Bonthron DT, Johnson CA, Ali M, Markham AF.

Hum Mutat. 2012 Feb;33(2):338-42. doi: 10.1002/humu.21645. Epub 2011 Nov 28.


DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.

Carr IM, Johnson CA, Markham AF, Toomes C, Bonthron DT, Sheridan EG.

Hum Mutat. 2011 Dec;32(12):1359-66. doi: 10.1002/humu.21597. Epub 2011 Sep 19.


Herpesvirus saimiri-mediated delivery of the adenomatous polyposis coli tumour suppressor gene reduces proliferation of colorectal cancer cells.

Macnab SA, Turrell SJ, Carr IM, Markham AF, Coletta PL, Whitehouse A.

Int J Oncol. 2011 Nov;39(5):1173-81. doi: 10.3892/ijo.2011.1130. Epub 2011 Jul 18.


Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

Carr IM, Morgan JE, Diggle CP, Sheridan E, Markham AF, Logan CV, Inglehearn CF, Taylor GR, Bonthron DT.

Genomics. 2011 Oct;98(4):302-9. doi: 10.1016/j.ygeno.2011.05.004. Epub 2011 May 19.


Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity.

Khan K, Al-Maskari A, McKibbin M, Carr IM, Booth A, Mohamed M, Siddiqui S, Poulter JA, Parry DA, Logan CV, Hashmi A, Sahi T, Jafri H, Raashid Y, Johnson CA, Markham AF, Toomes C, Rice A, Sheridan E, Inglehearn CF, Ali M.

Invest Ophthalmol Vis Sci. 2011 Jun 16;52(7):4294-9. doi: 10.1167/iovs.10-6776.


Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway.

Dimitriou R, Carr IM, West RM, Markham AF, Giannoudis PV.

BMC Musculoskelet Disord. 2011 Feb 10;12:44. doi: 10.1186/1471-2474-12-44.


GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Carr IM, Camm N, Taylor GR, Charlton R, Ellard S, Sheridan EG, Markham AF, Bonthron DT.

J Med Genet. 2011 Feb;48(2):123-30. doi: 10.1136/jmg.2010.082081. Epub 2010 Oct 30.


MethylViewer: computational analysis and editing for bisulfite sequencing and methyltransferase accessibility protocol for individual templates (MAPit) projects.

Pardo CE, Carr IM, Hoffman CJ, Darst RP, Markham AF, Bonthron DT, Kladde MP.

Nucleic Acids Res. 2011 Jan;39(1):e5. doi: 10.1093/nar/gkq716. Epub 2010 Oct 19.


Both isoforms of ketohexokinase are dispensable for normal growth and development.

Diggle CP, Shires M, McRae C, Crellin D, Fisher J, Carr IM, Markham AF, Hayward BE, Asipu A, Bonthron DT.

Physiol Genomics. 2010 Nov 29;42A(4):235-43. doi: 10.1152/physiolgenomics.00128.2010. Epub 2010 Sep 14.


Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT.

Rheumatology (Oxford). 2010 Jun;49(6):1056-62. doi: 10.1093/rheumatology/keq048. Epub 2010 Mar 18.


Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.

Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C.

Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Erratum in: Am J Hum Genet. 2016 Mar 3;98(3):592.


Genetic diagnosis of familial breast cancer using clonal sequencing.

Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR.

Hum Mutat. 2010 Apr;31(4):484-91. doi: 10.1002/humu.21216.


Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA.

Hum Mutat. 2009 Dec;30(12):1642-9. doi: 10.1002/humu.21105.


Inferring relative proportions of DNA variants from sequencing electropherograms.

Carr IM, Robinson JI, Dimitriou R, Markham AF, Morgan AW, Bonthron DT.

Bioinformatics. 2009 Dec 15;25(24):3244-50. doi: 10.1093/bioinformatics/btp583. Epub 2009 Oct 9.


IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Carr IM, Sheridan E, Hayward BE, Markham AF, Bonthron DT.

Hum Mutat. 2009 Jun;30(6):960-7. doi: 10.1002/humu.20974.


Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme.

Diggle CP, Shires M, Leitch D, Brooke D, Carr IM, Markham AF, Hayward BE, Asipu A, Bonthron DT.

J Histochem Cytochem. 2009 Aug;57(8):763-74. doi: 10.1369/jhc.2009.953190. Epub 2009 Apr 13.


Haematopoietic repopulating activity in human cord blood CD133+ quiescent cells.

Boxall SA, Cook GP, Pearce D, Bonnet D, El-Sherbiny YM, Blundell MP, Howe SJ, Leek JP, Markham AF, de Wynter EA.

Bone Marrow Transplant. 2009 Apr;43(8):627-35. doi: 10.1038/bmt.2008.368. Epub 2008 Nov 10.


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