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Items: 1 to 50 of 174

1.

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5.

Abdelhamed ZA, Abdelmottaleb DI, El-Asrag ME, Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA.

Sci Rep. 2019 Apr 1;9(1):5446. doi: 10.1038/s41598-019-41940-5.

2.

Matrix metalloproteinases in keratoconus - Too much of a good thing?

di Martino E, Ali M, Inglehearn CF.

Exp Eye Res. 2019 May;182:137-143. doi: 10.1016/j.exer.2019.03.016. Epub 2019 Mar 23. Review.

PMID:
30910610
3.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Taylor RL, Poulter JA, Downes SM, McKibbin M, Khan KN, Inglehearn CF, Webster AR, Hardcastle AJ, Michaelides M, Bishop PN, Clark SJ, Black GC; United Kingdom Inherited Retinal Dystrophy Consortium.

Ophthalmology. 2019 Oct;126(10):1410-1421. doi: 10.1016/j.ophtha.2019.03.013. Epub 2019 Mar 21.

4.

Phenotype and Variant Spectrum in the LAMB3 Form of Amelogenesis Imperfecta.

Smith CEL, Poulter JA, Brookes SJ, Murillo G, Silva S, Brown CJ, Patel A, Hussain H, Kirkham J, Inglehearn CF, Mighell AJ.

J Dent Res. 2019 Jun;98(6):698-704. doi: 10.1177/0022034519835205. Epub 2019 Mar 24.

5.

Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Apr;21(4):1028. doi: 10.1038/s41436-018-0392-y.

6.

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.

Al-Amri AH, Al Saegh A, Al-Mamari W, El-Asrag ME, Al-Kindi MN, Al Khabouri M, Al Wardy N, Al Lamki K, Gabr A, Idris A, Inglehearn CF, Clapcote SJ, Ali M.

Eur J Med Genet. 2018 Nov 23:103592. doi: 10.1016/j.ejmg.2018.11.026. [Epub ahead of print]

PMID:
30476627
7.

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, Cherry T, Rosseel T, Verdin H, Derolez J, Van Laethem T, Khan KN, McKibbin M, Toomes C, Ali M, Torella A, Testa F, Jimenez B, Simonelli F, De Zaeytijd J, Van den Ende J, Leroy BP, Coppieters F, Ayuso C, Inglehearn CF, Banfi S, De Baere E.

Genet Med. 2019 Jun;21(6):1319-1329. doi: 10.1038/s41436-018-0345-5. Epub 2018 Oct 31. Erratum in: Genet Med. 2019 Apr;21(4):1028.

8.

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

Buskin A, Zhu L, Chichagova V, Basu B, Mozaffari-Jovin S, Dolan D, Droop A, Collin J, Bronstein R, Mehrotra S, Farkas M, Hilgen G, White K, Pan KT, Treumann A, Hallam D, Bialas K, Chung G, Mellough C, Ding Y, Krasnogor N, Przyborski S, Zwolinski S, Al-Aama J, Alharthi S, Xu Y, Wheway G, Szymanska K, McKibbin M, Inglehearn CF, Elliott DJ, Lindsay S, Ali RR, Steel DH, Armstrong L, Sernagor E, Urlaub H, Pierce E, Lührmann R, Grellscheid SN, Johnson CA, Lako M.

Nat Commun. 2018 Oct 12;9(1):4234. doi: 10.1038/s41467-018-06448-y.

9.

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.

Whitehouse LLE, Smith CEL, Poulter JA, Brown CJ, Patel A, Lamb T, Brown LR, O'Sullivan EA, Mitchell RE, Berry IR, Charlton R, Inglehearn CF, Mighell AJ.

Oral Dis. 2019 Jan;25(1):182-191. doi: 10.1111/odi.12955. Epub 2018 Sep 9.

10.

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration.

Lorés-Motta L, Riaz M, Grunin M, Corominas J, van Asten F, Pauper M, Leenders M, Richardson AJ, Muether P, Cree AJ, Griffiths HL, Pham C, Belanger MC, Meester-Smoor MA, Ali M, Heid IM, Fritsche LG, Chakravarthy U, Gale R, McKibbin M, Inglehearn CF, Schlingemann RO, Omar A, Chen J, Koenekoop RK, Fauser S, Guymer RH, Hoyng CB, de Jong EK, Lotery AJ, Mitchell P, den Hollander AI, Baird PN, Chowers I.

JAMA Ophthalmol. 2018 Aug 1;136(8):875-884. doi: 10.1001/jamaophthalmol.2018.2019.

11.

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.

Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV.

Ophthalmic Genet. 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. Erratum in: Ophthalmic Genet. 2018 Oct;39(5):669.

PMID:
29676688
12.

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.

13.

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.

14.

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.

15.

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL, Poulter JA, Antanaviciute A, Kirkham J, Brookes SJ, Inglehearn CF, Mighell AJ.

Front Physiol. 2017 Jun 26;8:435. doi: 10.3389/fphys.2017.00435. eCollection 2017. Review.

16.

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.

Smith CEL, Kirkham J, Day PF, Soldani F, McDerra EJ, Poulter JA, Inglehearn CF, Mighell AJ, Brookes SJ.

Front Physiol. 2017 May 29;8:333. doi: 10.3389/fphys.2017.00333. eCollection 2017.

17.

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.

18.

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C.

Am J Hum Genet. 2017 Jun 1;100(6):960-968. doi: 10.1016/j.ajhg.2017.05.001.

19.

The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress.

Klaus K, Butler K, Durrant SJ, Ali M, Inglehearn CF, Hodgson TL, Gutierrez H, Pennington K.

Brain Behav. 2017 Apr 12;7(5):e00695. doi: 10.1002/brb3.695. eCollection 2017 May.

20.

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.

Smith CE, Whitehouse LL, Poulter JA, Brookes SJ, Day PF, Soldani F, Kirkham J, Inglehearn CF, Mighell AJ.

Eur J Hum Genet. 2017 Aug;25(8):1015-1019. doi: 10.1038/ejhg.2017.79. Epub 2017 May 17.

21.

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.

Brookes SJ, Barron MJ, Smith CEL, Poulter JA, Mighell AJ, Inglehearn CF, Brown CJ, Rodd H, Kirkham J, Dixon MJ.

Hum Mol Genet. 2017 May 15;26(10):1863-1876. doi: 10.1093/hmg/ddx090.

22.

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
23.

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.

24.

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.

25.

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.

26.

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ.

Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29.

27.

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta.

Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ.

Hum Mol Genet. 2016 Aug 15;25(16):3578-3587. doi: 10.1093/hmg/ddw203. Epub 2016 Jul 12.

28.

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF.

Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15.

29.

Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.

Al-Amri A, Saegh AA, Al-Mamari W, El-Asrag ME, Ivorra JL, Cardno AG, Inglehearn CF, Clapcote SJ, Ali M.

Am J Med Genet A. 2016 Jul;170(7):1826-31. doi: 10.1002/ajmg.a.37690. Epub 2016 May 5.

30.

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.

31.

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.

Poulter JA, Smith CE, Murrillo G, Silva S, Feather S, Howell M, Crinnion L, Bonthron DT, Carr IM, Watson CM, Inglehearn CF, Mighell AJ.

Mol Genet Genomic Med. 2015 Oct 4;3(6):543-9. doi: 10.1002/mgg3.164. eCollection 2015 Nov.

32.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604.

33.

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.

Parry DA, Holmes TD, Gamper N, El-Sayed W, Hettiarachchi NT, Ahmed M, Cook GP, Logan CV, Johnson CA, Joss S, Peers C, Prescott K, Savic S, Inglehearn CF, Mighell AJ.

J Allergy Clin Immunol. 2016 Mar;137(3):955-7.e8. doi: 10.1016/j.jaci.2015.08.051. Epub 2015 Nov 10. No abstract available.

34.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CE, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, Van Camp G.

Am J Hum Genet. 2015 Oct 1;97(4):535-45. doi: 10.1016/j.ajhg.2015.08.011. Epub 2015 Sep 17.

35.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

36.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

Abdelhamed ZA, Natarajan S, Wheway G, Inglehearn CF, Toomes C, Johnson CA, Jagger DJ.

Dis Model Mech. 2015 Jun;8(6):527-41. doi: 10.1242/dmm.019083. Epub 2015 Apr 7.

37.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M.

Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14.

38.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, Paula LM, Parry DA, Logan CV, Smith CE, Johnson CA, Inglehearn CF, Mighell AJ.

BMC Med Genet. 2015 Feb 21;16:8. doi: 10.1186/s12881-015-0154-5.

39.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M.

Mol Vis. 2015 Mar 7;21:236-43. eCollection 2015.

40.

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.

JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251.

PMID:
25541840
41.

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M.

PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014.

42.

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE.

Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3.

43.

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ.

Hum Mol Genet. 2014 Oct 15;23(20):5317-24. doi: 10.1093/hmg/ddu247. Epub 2014 May 23.

44.

Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.

Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M.

Cornea. 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041.

45.

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ.

Hum Mol Genet. 2014 Apr 15;23(8):2189-97. doi: 10.1093/hmg/ddt616. Epub 2013 Dec 6.

46.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C.

Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Review.

47.

Patterns of inheritance, not always easily visible.

Khan KN, Ali M, Poulter JA, McKibbin M, Inglehearn CF.

BMJ. 2013 Nov 6;347:f6610. doi: 10.1136/bmj.f6610. No abstract available.

PMID:
24196503
48.

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.

Al-Araimi M, Pal B, Poulter JA, van Genderen MM, Carr I, Cudrnak T, Brown L, Sheridan E, Mohamed MD, Bradbury J, Ali M, Inglehearn CF, Toomes C.

Mol Vis. 2013 Nov 1;19:2165-72. eCollection 2013.

49.

Mutational analysis of MIR184 in sporadic keratoconus and myopia.

Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE.

Invest Ophthalmol Vis Sci. 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035.

PMID:
23833072
50.

An x-ray scattering study into the structural basis of corneal refractive function in an avian model.

Morgan SR, Dooley EP, Hocking PM, Inglehearn CF, Ali M, Sorensen TL, Meek KM, Boote C.

Biophys J. 2013 Jun 18;104(12):2586-94. doi: 10.1016/j.bpj.2013.04.053.

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