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Items: 1 to 20 of 87

1.

X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene.

McClements M, Davies WI, Michaelides M, Carroll J, Rha J, Mollon JD, Neitz M, MacLaren RE, Moore AT, Hunt DM.

Vision Res. 2013 Mar 22;80:41-50. doi: 10.1016/j.visres.2012.12.012. Epub 2013 Jan 18.

2.

Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.

McClements M, Davies WI, Michaelides M, Young T, Neitz M, MacLaren RE, Moore AT, Hunt DM.

Invest Ophthalmol Vis Sci. 2013 Feb 15;54(2):1361-9. doi: 10.1167/iovs.12-11156.

3.

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.

Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10.

PMID:
20220053
4.

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ.

Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679.

5.

Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.

Orosz O, Rajta I, Vajas A, Takács L, Csutak A, Fodor M, Kolozsvári B, Resch M, Sényi K, Lesch B, Szabó V, Berta A, Balogh I, Losonczy G.

Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1834-1842. doi: 10.1167/iovs.16-21405.

PMID:
28358949
6.

X-linked cone dysfunction syndrome with myopia and protanopia.

Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM.

Ophthalmology. 2005 Aug;112(8):1448-54.

PMID:
15953640
7.

Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.

Patterson EJ, Wilk M, Langlo CS, Kasilian M, Ring M, Hufnagel RB, Dubis AM, Tee JJ, Kalitzeos A, Gardner JC, Ahmed ZM, Sisk RA, Larsen M, Sjoberg S, Connor TB, Dubra A, Neitz J, Hardcastle AJ, Neitz M, Michaelides M, Carroll J.

Invest Ophthalmol Vis Sci. 2016 Jul 1;57(8):3853-63. doi: 10.1167/iovs.16-19608.

8.

Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations.

Gardner JC, Michaelides M, Hardcastle AJ.

S Afr Med J. 2016 May 25;106(6 Suppl 1):S75-8. doi: 10.7196/SAMJ.2016.v106i6.11001.

PMID:
27245533
9.

X-linked cone dystrophy caused by mutation of the red and green cone opsins.

Gardner JC, Webb TR, Kanuga N, Robson AG, Holder GE, Stockman A, Ripamonti C, Ebenezer ND, Ogun O, Devery S, Wright GA, Maher ER, Cheetham ME, Moore AT, Michaelides M, Hardcastle AJ.

Am J Hum Genet. 2010 Jul 9;87(1):26-39. doi: 10.1016/j.ajhg.2010.05.019. Epub 2010 Jun 24.

10.

Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions.

Wagner-Schuman M, Neitz J, Rha J, Williams DR, Neitz M, Carroll J.

Vision Res. 2010 Nov 23;50(23):2396-402. doi: 10.1016/j.visres.2010.09.015. Epub 2010 Sep 17.

11.

Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies.

Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Züchner S, Rickman CB, Young TL.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1552-8. doi: 10.1167/iovs.08-2455. Epub 2008 Dec 20.

12.

Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency.

Ueyama H, Kuwayama S, Imai H, Oda S, Nishida Y, Tanabe S, Shichida Y, Yamade S.

Vision Res. 2004;44(19):2241-52.

13.

X-linked high myopia associated with cone dysfunction.

Young TL, Deeb SS, Ronan SM, Dewan AT, Alvear AB, Scavello GS, Paluru PC, Brott MS, Hayashi T, Holleschau AM, Benegas N, Schwartz M, Atwood LD, Oetting WS, Rosenberg T, Motulsky AG, King RA.

Arch Ophthalmol. 2004 Jun;122(6):897-908.

PMID:
15197065
14.

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.

Carroll J, Baraas RC, Wagner-Schuman M, Rha J, Siebe CA, Sloan C, Tait DM, Thompson S, Morgan JI, Neitz J, Williams DR, Foster DH, Neitz M.

Proc Natl Acad Sci U S A. 2009 Dec 8;106(49):20948-53. doi: 10.1073/pnas.0910128106. Epub 2009 Nov 23.

15.

Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic.

Carroll J, Rossi EA, Porter J, Neitz J, Roorda A, Williams DR, Neitz M.

Vision Res. 2010 Sep 15;50(19):1989-99. doi: 10.1016/j.visres.2010.07.009. Epub 2010 Jul 16.

16.

A new subset of deutan colour vision defect associated with an L/M visual pigment gene array of normal order and -71C substitution in the Japanese population.

Ueyama H, Muraki S, Tanabe S, Yamade S, Ogita H.

J Biochem. 2015 Sep;158(3):197-204. doi: 10.1093/jb/mvv034. Epub 2015 Mar 29.

PMID:
25820227
17.

A novel middle-wavelength opsin (M-opsin) null-mutation in the retinal cone dysfunction rat.

Xie B, Nakanishi S, Guo Q, Xia F, Yan G, An J, Li L, Serikawa T, Kuramoto T, Zhang Z.

Exp Eye Res. 2010 Jul;91(1):26-33. doi: 10.1016/j.exer.2010.03.017. Epub 2010 Apr 3.

PMID:
20371244
18.

Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.

Ueyama H, Muraki-Oda S, Yamade S, Tanabe S, Yamashita T, Shichida Y, Ogita H.

Biochem Biophys Res Commun. 2012 Jul 20;424(1):152-7. doi: 10.1016/j.bbrc.2012.06.094. Epub 2012 Jun 23.

PMID:
22732407
19.

Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene.

Weiss AH, Kelly JP, Bisset D, Deeb SS.

Ophthalmic Genet. 2012 Dec;33(4):187-95. doi: 10.3109/13816810.2012.681096. Epub 2012 May 2.

PMID:
22551329
20.

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.

Michaelides M, Johnson S, Simunovic MP, Bradshaw K, Holder G, Mollon JD, Moore AT, Hunt DM.

Eye (Lond). 2005 Jan;19(1):2-10.

PMID:
15094734

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