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Items: 1 to 50 of 453

1.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.

Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR.

Genet Med. 2019 Nov 8. doi: 10.1038/s41436-019-0685-9. [Epub ahead of print]

PMID:
31700164
2.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M.

Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31.

PMID:
31298765
3.

Characterization of Retinal Structure in ATF6-Associated Achromatopsia.

Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J.

Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2631-2640. doi: 10.1167/iovs.19-27047.

4.

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

Knöpfel EB, Vilches C, Camargo SMR, Errasti-Murugarren E, Stäubli A, Mayayo C, Munier FL, Miroshnikova N, Poncet N, Junza A, Bhattacharya SS, Prat E, Berry V, Berger W, Heon E, Moore AT, Yanes Ó, Nunes V, Palacín M, Verrey F, Kloeckener-Gruissem B.

Front Physiol. 2019 Jun 4;10:688. doi: 10.3389/fphys.2019.00688. eCollection 2019.

5.

Delineating the expanding phenotype associated with SCAPER gene mutation.

Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium.

Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. No abstract available.

6.

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA, Jackson AP, Mansour S, Moore AT, Michaelides M.

Am J Ophthalmol. 2019 Nov;207:87-98. doi: 10.1016/j.ajo.2019.05.001. Epub 2019 May 8.

PMID:
31077665
7.

Clinical Features and Multi-Modality Imaging of Isolated Retinal Astrocytic Hamartoma.

Stacey AW, Pefkianaki M, Ilginis T, Michaelides M, Hykin P, Webster A, Moore AT, Sagoo MS.

Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):e1-e9. doi: 10.3928/23258160-20190129-12.

PMID:
30768223
8.

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.

Silva RS, Arno G, Cipriani V, Pontikos N, Defoort-Dhellemmes S, Kalhoro A, Carss KJ, Raymond FL, Dhaenens CM, Jensen H, Rosenberg T, van Heyningen V, Moore AT, Puech B, Webster AR.

Hum Mutat. 2019 May;40(5):578-587. doi: 10.1002/humu.23715. Epub 2019 Feb 14.

PMID:
30710461
9.

Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.

Gill JS, Georgiou M, Kalitzeos A, Moore AT, Michaelides M.

Br J Ophthalmol. 2019 Jan 24. pii: bjophthalmol-2018-313278. doi: 10.1136/bjophthalmol-2018-313278. [Epub ahead of print] Review.

10.

Unilateral pigmentary retinopathy: a retrospective case series.

Errera MH, Robson AG, Wong T, Hykin PG, Pal B, Sagoo MS, Pavesio CE, Moore AT, Webster AR, MacLaren RE, Holder GE.

Acta Ophthalmol. 2019 Jun;97(4):e601-e617. doi: 10.1111/aos.13981. Epub 2018 Dec 31.

PMID:
30597758
11.

PAX6-Related Aniridia.

Moosajee M, Hingorani M, Moore AT.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2003 May 20 [updated 2018 Oct 18].

12.

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa.

Liew G, Strong S, Bradley P, Severn P, Moore AT, Webster AR, Mitchell P, Kifley A, Michaelides M.

Br J Ophthalmol. 2019 Aug;103(8):1163-1166. doi: 10.1136/bjophthalmol-2018-311964. Epub 2018 Oct 5.

PMID:
30291136
13.

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.

Kumaran N, Pennesi ME, Yang P, Trzupek KM, Schlechter C, Moore AT, Weleber RG, Michaelides M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2018 Oct 4.

14.

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF.

PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug.

15.

"I Wasn't in My Right Mind": Qualitative Findings on the Impact of Alcohol on Condom Use in Patients Living with HIV/AIDS in Brazil, Thailand, and Zambia (HPTN 063).

Rogers BG, Mendez NA, Mimiaga MJ, Sherman SG, Closson EF, Tangmunkongvorakul A, Friedman RK, Limbada M, Moore AT, Srithanaviboonchai K, Mayer KH, Safren SA; HPTN 063 Study Team.

Int J Behav Med. 2019 Feb;26(1):17-27. doi: 10.1007/s12529-018-9739-7.

PMID:
30105603
16.

Cobalamin D Deficiency Identified Through Newborn Screening.

Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC.

JIMD Rep. 2019;44:73-77. doi: 10.1007/8904_2018_126. Epub 2018 Aug 11.

17.

PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.

Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG.

Retin Cases Brief Rep. 2018 Aug 1. doi: 10.1097/ICB.0000000000000796. [Epub ahead of print]

PMID:
30074570
18.

Reply to Hurlburt.

Schwitzgebel E, Moore AT.

Conscious Cogn. 2018 Aug;63:143-145. doi: 10.1016/j.concog.2018.06.017. Epub 2018 Jul 9.

PMID:
30001839
19.

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.

Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M.

Eye (Lond). 2018 May 1;32:1661-1668. doi: 10.1038/s41433-018-0154-8.

20.

Retinal findings in a patient with mutations in ABCC6 and ABCA4.

Mahroo OA, Fujinami K, Moore AT, Webster AR.

Eye (Lond). 2018 Sep;32(9):1542-1543. doi: 10.1038/s41433-018-0106-3. Epub 2018 May 16. No abstract available.

21.

The experience of reading.

Moore AT, Schwitzgebel E.

Conscious Cogn. 2018 Jul;62:57-68. doi: 10.1016/j.concog.2018.03.011. Epub 2018 May 3.

PMID:
29730400
22.

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A.

Am J Med Genet A. 2018 Apr;176(4):997-1000. doi: 10.1002/ajmg.a.38637.

23.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.

Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M.

Am J Ophthalmol. 2018 Apr;188:123-130. doi: 10.1016/j.ajo.2018.01.029. Epub 2018 Feb 5.

24.

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.

Sheck L, Davies WIL, Moradi P, Robson AG, Kumaran N, Liasis AC, Webster AR, Moore AT, Michaelides M.

Ophthalmology. 2018 Jun;125(6):894-903. doi: 10.1016/j.ophtha.2017.12.013. Epub 2018 Feb 3.

25.

A clinical and molecular characterisation of CRB1-associated maculopathy.

Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M; UK Inherited Retinal Disease Consortium.

Eur J Hum Genet. 2018 May;26(5):687-694. doi: 10.1038/s41431-017-0082-2. Epub 2018 Feb 1.

26.

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M.

Ophthalmology. 2018 May;125(5):735-746. doi: 10.1016/j.ophtha.2017.11.020. Epub 2018 Jan 6.

27.

PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort.

Shona OA, Islam F, Robson AG, Webster AR, Moore AT, Michaelides M.

Retina. 2019 Mar;39(3):514-529. doi: 10.1097/IAE.0000000000001950.

PMID:
29300249
28.

Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?

Moran C, Habeb AM, Kahaly GJ, Kampmann C, Hughes M, Marek J, Rajanayagam O, Kuczynski A, Vargha-Khadem F, Morsy M, Offiah AC, Poole K, Ward K, Lyons G, Halsall D, Berman L, Watson L, Baguley D, Mollon J, Moore AT, Holder GE, Dattani M, Chatterjee K.

J Endocr Soc. 2017 Aug 8;1(9):1203-1212. doi: 10.1210/js.2017-00204. eCollection 2017 Sep 1.

29.

Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa.

Liew G, Moore AT, Bradley PD, Webster AR, Michaelides M.

Ophthalmic Epidemiol. 2018 Jun;25(3):183-186. doi: 10.1080/09286586.2017.1383448. Epub 2017 Nov 15.

PMID:
29140735
30.

High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.

Lew YJ, Rinella N, Qin J, Chiang J, Moore AT, Porco TC, Roorda A, Duncan JL.

Am J Ophthalmol. 2018 Jan;185:32-42. doi: 10.1016/j.ajo.2017.10.023. Epub 2017 Nov 16.

31.

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M.

Ophthalmic Genet. 2018 Apr;39(2):236-241. doi: 10.1080/13816810.2017.1381977. Epub 2017 Oct 17.

PMID:
29039721
32.

Revesz syndrome masquerading as traumatic retinal detachment.

Moussa K, Huang JN, Moore AT.

J AAPOS. 2017 Oct;21(5):422-425.e1. doi: 10.1016/j.jaapos.2017.04.016. Epub 2017 Sep 1.

PMID:
28866069
33.

Bullous X linked retinoschisis: clinical features and prognosis.

Hinds AM, Fahim A, Moore AT, Wong SC, Michaelides M.

Br J Ophthalmol. 2018 May;102(5):622-624. doi: 10.1136/bjophthalmol-2017-310593. Epub 2017 Aug 28.

PMID:
28848025
34.

Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK.

Moosajee M, Abbouda A, Foot B, Bunce C, Moore AT, Acheson J.

Br J Ophthalmol. 2018 Apr;102(4):438-443. doi: 10.1136/bjophthalmol-2017-310445. Epub 2017 Aug 26.

PMID:
28844051
35.

Genetic Testing for Inherited Retinal Disease.

Moore AT.

Ophthalmology. 2017 Sep;124(9):1254-1255. doi: 10.1016/j.ophtha.2017.06.018. No abstract available.

PMID:
28823343
36.

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Cipriani V, Silva RS, Arno G, Pontikos N, Kalhoro A, Valeina S, Inashkina I, Audere M, Rutka K, Puech B, Michaelides M, van Heyningen V, Lace B, Webster AR, Moore AT.

Sci Rep. 2017 Aug 8;7(1):7512. doi: 10.1038/s41598-017-06387-6.

37.

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.

Cipriani V, Hogg RE, Sofat R, Moore AT, Webster AR, Yates JRW, Fletcher AE; European Eye (EUREYE) Study Group.

JAMA Ophthalmol. 2017 Sep 1;135(9):909-916. doi: 10.1001/jamaophthalmol.2017.2191.

38.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Majander A, Robson AG, João C, Holder GE, Chinnery PF, Moore AT, Votruba M, Stockman A, Yu-Wai-Man P.

Mitochondrion. 2017 Sep;36:138-149. doi: 10.1016/j.mito.2017.07.006. Epub 2017 Jul 18.

39.

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

Kumaran N, Moore AT, Weleber RG, Michaelides M.

Br J Ophthalmol. 2017 Sep;101(9):1147-1154. doi: 10.1136/bjophthalmol-2016-309975. Epub 2017 Jul 8. Review. Erratum in: Br J Ophthalmol. 2019 Jun;103(6):862.

40.

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Cipriani V, Kalhoro A, Arno G, Silva RS, Pontikos N, Puech V, McClements ME, Hunt DM, van Heyningen V, Michaelides M, Webster AR, Moore AT, Puech B.

Ophthalmic Genet. 2017 Dec;38(6):511-519. doi: 10.1080/13816810.2017.1289544. Epub 2017 Mar 2.

PMID:
28635424
41.

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT.

Ophthalmic Genet. 2017 Dec;38(6):559-561. doi: 10.1080/13816810.2017.1290118. Epub 2017 Mar 2.

42.

NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY.

Khan KN, Islam F, Holder GE, Robson A, Webster AR, Moore AT, Michaelides M.

Retina. 2018 Feb;38(2):379-386. doi: 10.1097/IAE.0000000000001523.

PMID:
28590961
43.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.

Khan KN, El-Asrag ME, Ku CA, Holder GE, McKibbin M, Arno G, Poulter JA, Carss K, Bommireddy T, Bagheri S, Bakall B, Scholl HP, Raymond FL, Toomes C, Inglehearn CF, Pennesi ME, Moore AT, Michaelides M, Webster AR, Ali M; for NIHR BioResource-Rare Diseases and UK Inherited Retinal Disease Consortium.

Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):2906-2914. doi: 10.1167/iovs.16-20608.

44.

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME.

JAMA Ophthalmol. 2017 Jul 1;135(7):749-760. doi: 10.1001/jamaophthalmol.2017.1401.

45.

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT.

Ophthalmology. 2017 Jul;124(7):1004-1013. doi: 10.1016/j.ophtha.2017.02.026. Epub 2017 Mar 31.

46.

Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.

Lambertus S, Bax NM, Fakin A, Groenewoud JM, Klevering BJ, Moore AT, Michaelides M, Webster AR, van der Wilt GJ, Hoyng CB.

PLoS One. 2017 Mar 29;12(3):e0174020. doi: 10.1371/journal.pone.0174020. eCollection 2017.

47.

Childhood-onset Leber hereditary optic neuropathy.

Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P.

Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17.

48.

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.

49.

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.

Ramsden CM, Nommiste B, R Lane A, Carr AF, Powner MB, J K Smart M, Chen LL, Muthiah MN, Webster AR, Moore AT, Cheetham ME, da Cruz L, Coffey PJ.

Sci Rep. 2017 Mar 3;7(1):51. doi: 10.1038/s41598-017-00142-7.

50.

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.

Khan KN, Lord EC, Arno G, Islam F, Carss KJ, Raymond F, Toomes C, Ali M, Inglehearn CF, Webster AR, Moore AT, Poulter JA, Michaelides M.

Retina. 2018 Mar;38(3):620-628. doi: 10.1097/IAE.0000000000001570.

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