Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

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.

2.

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.

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.

PMID:
20220053
4.

Blue cone monochromacy: causative mutations and associated phenotypes.

Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD, Moore AT, Hardcastle AJ.

Mol Vis. 2009;15:876-84.

5.

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG.

Hum Gene Ther. 2013 Dec;24(12):993-1006. doi: 10.1089/hum.2013.153.

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.

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

Carroll J, Dubra A, Gardner JC, Mizrahi-Meissonnier L, Cooper RF, Dubis AM, Nordgren R, Genead M, Connor TB Jr, Stepien KE, Sharon D, Hunt DM, Banin E, Hardcastle AJ, Moore AT, Williams DR, Fishman G, Neitz J, Neitz M, Michaelides M.

Invest Ophthalmol Vis Sci. 2012 Dec 5;53(13):8006-15. doi: 10.1167/iovs.12-11087.

8.

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
9.

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH.

Graefes Arch Clin Exp Ophthalmol. 2004 Sep;242(9):729-35.

PMID:
15069569
10.

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.

PMID:
20371244
11.

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.

12.

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.

PMID:
22551329
13.

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

Ayyagari R, Kakuk LE, Coats CL, Bingham EL, Toda Y, Felius J, Sieving PA.

Mol Vis. 1999 Jul 28;5:13.

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.

15.

The L:M cone ratio in males of African descent with normal color vision.

McMahon C, Carroll J, Awua S, Neitz J, Neitz M.

J Vis. 2008 Feb 20;8(2):5.1-9. doi: 10.1167/8.2.5.

16.

Progressive cone dystrophy with deutan genotype and phenotype.

Scholl HP, Kremers J, Besch D, Zrenner E, Jägle H.

Graefes Arch Clin Exp Ophthalmol. 2006 Feb;244(2):183-91.

PMID:
16082559
17.

Retinal cone photoreceptors of the deer mouse Peromyscus maniculatus: development, topography, opsin expression and spectral tuning.

Arbogast P, Glösmann M, Peichl L.

PLoS One. 2013 Nov 15;8(11):e80910. doi: 10.1371/journal.pone.0080910.

18.

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.

Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG.

PLoS One. 2015 Apr 24;10(4):e0125700. doi: 10.1371/journal.pone.0125700.

19.

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.

20.

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.

Items per page

Supplemental Content

Support Center