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Results: 1 to 20 of 286

1.

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 Jul 28. doi: 10.1038/labinvest.2014.96. [Epub ahead of print]

PMID:
25068661
[PubMed - as supplied by publisher]
2.

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.

PMID:
24330579
[PubMed]
Free PMC Article
3.

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.

PMID:
24219244
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
23554237
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
23483711
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
23090942
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
22968592
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
22915446
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
22912880
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
22553128
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
22266235
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
22101682
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
22052625
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
21905167
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
21769429
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
21621601
[PubMed - indexed for MEDLINE]
Free Article
17.

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.

PMID:
21474777
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
21310029
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
21037276
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
20959287
[PubMed - indexed for MEDLINE]
Free PMC Article

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