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Items: 1 to 50 of 529

1.

Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG).

Jasani KM, Parry NRA, Black G, Kelly SP.

BMJ Case Rep. 2018 Feb 5;2018. pii: bcr-2016-217556. doi: 10.1136/bcr-2016-217556.

PMID:
29437727
2.

Reflections on the ethics of participatory visual methods to engage communities in global health research.

Black GF, Davies A, Iskander D, Chambers M.

Glob Bioeth. 2017 Dec 20;29(1):22-38. doi: 10.1080/11287462.2017.1415722. eCollection 2018.

3.

Understanding Miro GTPases: Implications in the Treatment of Neurodegenerative Disorders.

Kay L, Pienaar IS, Cooray R, Black G, Soundararajan M.

Mol Neurobiol. 2018 Feb 6. doi: 10.1007/s12035-018-0927-x. [Epub ahead of print] Review.

PMID:
29411264
4.

C-reactive protein and pentraxin-3 binding of factor H-like protein 1 differs from complement factor H: implications for retinal inflammation.

Swinkels M, Zhang JH, Tilakaratna V, Black G, Perveen R, McHarg S, Inforzato A, Day AJ, Clark SJ.

Sci Rep. 2018 Jan 26;8(1):1643. doi: 10.1038/s41598-017-18395-7.

5.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S.

Genes (Basel). 2018 Jan 10;9(1). pii: E21. doi: 10.3390/genes9010021.

6.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Ellingford JM, Horn B, Campbell C, Arno G, Barton S, Tate C, Bhaskar S, Sergouniotis PI, Taylor RL, Carss KJ, Raymond LFL, Michaelides M, Ramsden SC, Webster AR, Black GCM.

J Med Genet. 2018 Feb;55(2):114-121. doi: 10.1136/jmedgenet-2017-104791. Epub 2017 Oct 26.

7.

The Influence of Physical Qualities on Activity Profiles of Female Australian Football Match-Play.

Black GM, Gabbett TJ, Johnston RD, Cole MH, Naughton G, Dawson B.

Int J Sports Physiol Perform. 2017 Oct 16:1-20. doi: 10.1123/ijspp.2016-0723. [Epub ahead of print]

PMID:
29035595
8.

Age- and sex-related effects in children with mild traumatic brain injury on diffusion magnetic resonance imaging properties: A comparison of voxelwise and tractography methods.

Goodrich-Hunsaker NJ, Abildskov TJ, Black G, Bigler ED, Cohen DM, Mihalov LK, Bangert BA, Taylor HG, Yeates KO.

J Neurosci Res. 2018 Apr;96(4):626-641. doi: 10.1002/jnr.24142. Epub 2017 Oct 6.

PMID:
28984377
9.

Impact of a novel phosphoinositol-3 kinase inhibitor in preventing mitochondrial DNA damage and damage-associated molecular pattern accumulation: Results from the Biochronicity Project.

Black GE, Sokol KK, Moe DM, Simmons JD, Muscat D, Pastukh V, Capley G, Gorodnya O, Ruchko M, Roth MB, Gillespie M, Martin MJ.

J Trauma Acute Care Surg. 2017 Oct;83(4):683-689. doi: 10.1097/TA.0000000000001593.

PMID:
28930961
10.

The Influence of Rotations on Match Running Performance in Female Australian Football Midfielders.

Black GM, Gabbett TJ, Johnston RD, Naughton G, Cole MH, Dawson B.

Int J Sports Physiol Perform. 2017 Sep 5:1-22. doi: 10.1123/ijspp.2017-0175. [Epub ahead of print]

PMID:
28872377
11.

The influence of contextual factors on running performance in female Australian Football match-play.

Black GM, Gabbett TJ, Naughton G, Cole MH, Johnston RD, Dawson B.

J Strength Cond Res. 2017 Jul 12. doi: 10.1519/JSC.0000000000002142. [Epub ahead of print]

PMID:
28704310
12.

Fluorogenic kinetic assay for high-throughput discovery of stereoselective ketoreductases relevant to pharmaceutical synthesis.

Thai YC, Szekrenyi A, Qi Y, Black GW, Charnock SJ, Fessner WD.

Bioorg Med Chem. 2017 May 13. pii: S0968-0896(17)30086-X. doi: 10.1016/j.bmc.2017.05.024. [Epub ahead of print]

13.

Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

Hariri AH, Velaga SB, Girach A, Ip MS, Le PV, Lam BL, Fischer MD, Sankila EM, Pennesi ME, Holz FG, MacLaren RE, Birch DG, Hoyng CB, MacDonald IM, Black GC, Tsang SH, Bressler NM, Larsen M, Gorin MB, Webster AR, Sadda SR; Natural History of the Progression of Choroideremia (NIGHT) Study Group.

Am J Ophthalmol. 2017 Jul;179:110-117. doi: 10.1016/j.ajo.2017.05.002. Epub 2017 May 10.

PMID:
28499705
14.

The effect of Maillard reaction products and yeast strain on the synthesis of key higher alcohols and esters in beer fermentations.

Dack RE, Black GW, Koutsidis G, Usher SJ.

Food Chem. 2017 Oct 1;232:595-601. doi: 10.1016/j.foodchem.2017.04.043. Epub 2017 Apr 7.

PMID:
28490116
15.

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Vincent AL, Abeysekera N, van Bysterveldt KA, Oliver VF, Ellingford JM, Barton S, Black GC.

Clin Exp Ophthalmol. 2017 Dec;45(9):901-910. doi: 10.1111/ceo.12983. Epub 2017 Jun 13.

PMID:
28488341
16.

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Ellingford JM, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor RL, Sergouniotis PI, Horn B, Lamb JA, Michaelides M, Webster AR, Newman WG, Panda B, Ramsden SC, Black GC.

Eur J Hum Genet. 2017 Jun;25(6):719-724. doi: 10.1038/ejhg.2017.42. Epub 2017 Apr 5.

17.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Taylor RL, Parry NRA, Barton SJ, Campbell C, Delaney CM, Ellingford JM, Hall G, Hardcastle C, Morarji J, Nichol EJ, Williams LC, Douzgou S, Clayton-Smith J, Ramsden SC, Sharma V, Biswas S, Lloyd IC, Ashworth JL, Black GC, Sergouniotis PI.

Ophthalmology. 2017 Jul;124(7):985-991. doi: 10.1016/j.ophtha.2017.02.005. Epub 2017 Mar 22.

PMID:
28341476
18.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC, Plagnol V.

Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147.

PMID:
28334266
19.

Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.

Davison N, Payne K, Eden M, McAllister M, Roberts SA, Ingram S, Black GCM, Hall G.

Genet Med. 2017 Sep;19(9):1032-1039. doi: 10.1038/gim.2017.9. Epub 2017 Mar 16.

PMID:
28301457
20.

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC; UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.

JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.

PMID:
28253385
21.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C.

Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282.

PMID:
28173158
22.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026.

PMID:
28129423
23.

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

Morarji J, Gillespie R, Sergouniotis PI, Horvath R, Black GC.

JAMA Ophthalmol. 2016 Dec 29. doi: 10.1001/jamaophthalmol.2016.4985. [Epub ahead of print] No abstract available.

PMID:
28033445
24.

Improving diagnosis for congenital cataract by introducing NGS genetic testing.

Musleh M, Ashworth J, Black G, Hall G.

BMJ Qual Improv Rep. 2016 Sep 19;5(1). pii: u211094.w4602. eCollection 2016.

25.

Supervised learning technique for the automated identification of white matter hyperintensities in traumatic brain injury.

Stone JR, Wilde EA, Taylor BA, Tate DF, Levin H, Bigler ED, Scheibel RS, Newsome MR, Mayer AR, Abildskov T, Black GM, Lennon MJ, York GE, Agarwal R, DeVillasante J, Ritter JL, Walker PB, Ahlers ST, Tustison NJ.

Brain Inj. 2016;30(12):1458-1468.

PMID:
27834541
26.

Quantitative structural neuroimaging of mild traumatic brain injury in the Chronic Effects of Neurotrauma Consortium (CENC): Comparison of volumetric data within and across scanners.

Wilde EA, Bigler ED, Huff T, Wang H, Black GM, Christensen ZP, Goodrich-Hunsaker N, Petrie JA, Abildskov T, Taylor BA, Stone JR, Tustison NJ, Newsome MR, Levin HS, Chu ZD, York GE, Tate DF.

Brain Inj. 2016;30(12):1442-1451.

PMID:
27834540
27.

There's an app for that: A handheld smartphone-based infrared imaging device to assess adequacy and level of aortic occlusion during REBOA.

Sokol KK, Black GE, Willey SB, Kniery K, Marko ST, Eckert MJ, Martin MJ.

J Trauma Acute Care Surg. 2017 Jan;82(1):102-108. doi: 10.1097/TA.0000000000001264.

PMID:
27805993
28.

Diastolic pulmonary gradient predicts outcomes in group 1 pulmonary hypertension (analysis of the NIH primary pulmonary hypertension registry).

Mazimba S, Mejia-Lopez E, Black G, Kennedy JL, Bergin J, Tallaj JA, Abuannadi M, Mihalek AD, Bilchick KC.

Respir Med. 2016 Oct;119:81-86. doi: 10.1016/j.rmed.2016.08.024. Epub 2016 Aug 25.

PMID:
27692153
29.

Educational differences in responses to breast cancer symptoms: A qualitative comparative study.

Marcu A, Black G, Vedsted P, Lyratzopoulos G, Whitaker KL.

Br J Health Psychol. 2017 Feb;22(1):26-41. doi: 10.1111/bjhp.12215. Epub 2016 Sep 29.

PMID:
27680898
30.

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.

Sergouniotis PI, Ellingford JM, O'Sullivan J, Fenerty CH, Black GC.

Acta Ophthalmol. 2017 May;95(3):e249-e250. doi: 10.1111/aos.13246. Epub 2016 Sep 28. No abstract available.

PMID:
27678338
31.

Preperitoneal balloon tamponade for lethal closed retroperitoneal pelvic hemorrhage in a swine model: A comparable and minimally invasive alternative to open pre-peritoneal pelvic packing.

Sokol KK, Black GE, Willey SB, Song MY, Marko ST, Eckert MJ, Inaba K, Martin MJ.

J Trauma Acute Care Surg. 2016 Dec;81(6):1046-1055.

PMID:
27653169
32.

What do people fear about cancer? A systematic review and meta-synthesis of cancer fears in the general population.

Vrinten C, McGregor LM, Heinrich M, von Wagner C, Waller J, Wardle J, Black GB.

Psychooncology. 2017 Aug;26(8):1070-1079. doi: 10.1002/pon.4287. Epub 2016 Oct 6. Review.

33.

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.

Sergouniotis PI, Barton SJ, Waller S, Perveen R, Ellingford JM, Campbell C, Hall G, Gillespie RL, Bhaskar SS, Ramsden SC, Black GC, Lovell SC.

Orphanet J Rare Dis. 2016 Sep 14;11(1):125. doi: 10.1186/s13023-016-0505-0.

34.

Automatic Detection of Pitching and Throwing Events in Baseball With Inertial Measurement Sensors.

Murray NB, Black GM, Whiteley RJ, Gahan P, Cole MH, Utting A, Gabbett TJ.

Int J Sports Physiol Perform. 2017 Apr;12(4):533-537. doi: 10.1123/ijspp.2016-0212. Epub 2016 Sep 6.

PMID:
27617847
35.

Analogues of Marine Guanidine Alkaloids Are in Vitro Effective against Trypanosoma cruzi and Selectively Eliminate Leishmania (L.) infantum Intracellular Amastigotes.

Martins LF, Mesquita JT, Pinto EG, Costa-Silva TA, Borborema SE, Galisteo Junior AJ, Neves BJ, Andrade CH, Shuhaib ZA, Bennett EL, Black GP, Harper PM, Evans DM, Fituri HS, Leyland JP, Martin C, Roberts TD, Thornhill AJ, Vale SA, Howard-Jones A, Thomas DA, Williams HL, Overman LE, Berlinck RG, Murphy PJ, Tempone AG.

J Nat Prod. 2016 Sep 23;79(9):2202-10. doi: 10.1021/acs.jnatprod.6b00256. Epub 2016 Sep 2.

PMID:
27586460
36.

Cytochromes P450: History, Classes, Catalytic Mechanism, and Industrial Application.

Cook DJ, Finnigan JD, Cook K, Black GW, Charnock SJ.

Adv Protein Chem Struct Biol. 2016;105:105-26. doi: 10.1016/bs.apcsb.2016.07.003. Epub 2016 Aug 9. Review.

PMID:
27567486
37.

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

Ellingford JM, Sergouniotis PI, Jenkins E, Black GC.

Clin Exp Ophthalmol. 2017 Apr;45(3):297-299. doi: 10.1111/ceo.12825. Epub 2016 Sep 21. No abstract available.

PMID:
27551809
38.

Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome.

Sergouniotis PI, Hadfield KD, Black GC.

JAMA Ophthalmol. 2016 Aug 11;134(8):e161299. doi: 10.1001/jamaophthalmol.2016.1299. Epub 2016 Aug 11. No abstract available.

PMID:
27548298
39.

Inducing metabolic suppression in severe hemorrhagic shock: Pilot study results from the Biochronicity Project.

Black GE, Sokol KK, Shawhan RR, Eckert MJ, Salgar S, Marko ST, Hoffer ZS, Keyes CC, Roth MB, Martin MJ.

J Trauma Acute Care Surg. 2016 Dec;81(6):1003-1011.

PMID:
27537510
40.

Structural Neuroimaging Findings in Mild Traumatic Brain Injury.

Bigler ED, Abildskov TJ, Goodrich-Hunsaker NJ, Black G, Christensen ZP, Huff T, Wood DM, Hesselink JR, Wilde EA, Max JE.

Sports Med Arthrosc Rev. 2016 Sep;24(3):e42-52. doi: 10.1097/JSA.0000000000000119. Review.

PMID:
27482782
41.

The Relation of Focal Lesions to Cortical Thickness in Pediatric Traumatic Brain Injury.

Bigler ED, Zielinski BA, Goodrich-Hunsaker N, Black GM, Huff BS, Christiansen Z, Wood DM, Abildskov TJ, Dennis M, Taylor HG, Rubin K, Vannatta K, Gerhardt CA, Stancin T, Yeates KO.

J Child Neurol. 2016 Oct;31(11):1302-11. doi: 10.1177/0883073816654143. Epub 2016 Jun 24.

42.

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.

Musleh M, Hall G, Lloyd IC, Gillespie RL, Waller S, Douzgou S, Clayton-Smith J, Kehdi E, Black GC, Ashworth J.

Eye (Lond). 2016 Sep;30(9):1175-81. doi: 10.1038/eye.2016.105. Epub 2016 Jun 17.

43.

Educational differences in likelihood of attributing breast symptoms to cancer: a vignette-based study.

Marcu A, Lyratzopoulos G, Black G, Vedsted P, Whitaker KL.

Psychooncology. 2016 Oct;25(10):1191-1197. doi: 10.1002/pon.4177. Epub 2016 Jun 16.

PMID:
27218858
44.

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM, Barton S, Bhaskar S, O'Sullivan J, Williams SG, Lamb JA, Panda B, Sergouniotis PI, Gillespie RL, Daiger SP, Hall G, Gale T, Lloyd IC, Bishop PN, Ramsden SC, Black GC.

J Med Genet. 2016 May 11. pii: jmedgenet-2016-103837. doi: 10.1136/jmedgenet-2016-103837. [Epub ahead of print]

45.

Visual Acuity after Retinal Gene Therapy for Choroideremia.

Edwards TL, Jolly JK, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Xue K, Downes SM, Simunovic MP, Seabra MC, MacLaren RE.

N Engl J Med. 2016 May 19;374(20):1996-8. doi: 10.1056/NEJMc1509501. Epub 2016 Apr 27. No abstract available.

46.

Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom.

Eden M, Payne K, Jones C, Wright SJ, Hall G, McAllister M, Black G.

Eye (Lond). 2016 Jul;30(7):966-71. doi: 10.1038/eye.2016.74. Epub 2016 Apr 15.

47.

Monitoring Workload in Throwing-Dominant Sports: A Systematic Review.

Black GM, Gabbett TJ, Cole MH, Naughton G.

Sports Med. 2016 Oct;46(10):1503-16. doi: 10.1007/s40279-016-0529-6. Review.

PMID:
27071991
48.

Efficacy of a novel fluoroscopy-free endovascular balloon device with pressure release capabilities in the setting of uncontrolled junctional hemorrhage.

Sokol KK, Black GE, Shawhan R, Marko ST, Eckert MJ, Tran NT, Starnes BW, Martin MJ.

J Trauma Acute Care Surg. 2016 Jun;80(6):907-14. doi: 10.1097/TA.0000000000001051.

PMID:
27015577
49.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT.

Invest Ophthalmol Vis Sci. 2016 Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976.

PMID:
26968735
50.

Atypical presentation of CRB1 retinopathy.

Morarji J, Lenassi E, Black GC, Ashworth JL.

Acta Ophthalmol. 2016 Sep;94(6):e513-4. doi: 10.1111/aos.12997. Epub 2016 Feb 23. No abstract available.

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