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Items: 1 to 20 of 58

1.

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.

Wawrocka A, Kohl S, Baumann B, Walczak-Sztulpa J, Wicher K, Skorczyk-Werner A, Krawczynski MR.

Mol Vis. 2014 Dec 23;20:1732-9. eCollection 2014.

2.

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.

3.

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM.

Eur J Hum Genet. 2015 Apr;23(4):473-80. doi: 10.1038/ejhg.2014.136. Epub 2014 Jul 23.

PMID:
25052312
4.

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH; POC1B Study Group, Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP.

Am J Hum Genet. 2014 Aug 7;95(2):131-42. doi: 10.1016/j.ajhg.2014.06.012. Epub 2014 Jul 10.

5.

Causes and consequences of inherited cone disorders.

Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP.

Prog Retin Eye Res. 2014 Sep;42:1-26. doi: 10.1016/j.preteyeres.2014.05.001. Epub 2014 May 22. Review.

PMID:
24857951
6.

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. Epub 2013 Oct 30.

7.

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.

8.

Blue cone monochromatism in a female due to skewed X-inactivation.

Frederiksen AL, Duno M, Welinder LG.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):101-4. doi: 10.3109/13816810.2012.726394. Epub 2012 Sep 24.

PMID:
22998501
9.

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
10.

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
11.

Worldwide prevalence of red-green color deficiency.

Birch J.

J Opt Soc Am A Opt Image Sci Vis. 2012 Mar 1;29(3):313-20. doi: 10.1364/JOSAA.29.000313.

PMID:
22472762
12.

Self-organizing optic-cup morphogenesis in three-dimensional culture.

Eiraku M, Takata N, Ishibashi H, Kawada M, Sakakura E, Okuda S, Sekiguchi K, Adachi T, Sasai Y.

Nature. 2011 Apr 7;472(7341):51-6. doi: 10.1038/nature09941.

PMID:
21475194
13.

The genetics of normal and defective color vision.

Neitz J, Neitz M.

Vision Res. 2011 Apr 13;51(7):633-51. doi: 10.1016/j.visres.2010.12.002. Epub 2010 Dec 15. Review.

14.

Epigenetic control of expression of the human L- and M- pigment genes.

Deeb SS, Bisset D, Fu L.

Ophthalmic Physiol Opt. 2010 Sep;30(5):446-53. doi: 10.1111/j.1475-1313.2010.00735.x.

PMID:
20883327
15.

Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina.

Swaroop A, Kim D, Forrest D.

Nat Rev Neurosci. 2010 Aug;11(8):563-76. doi: 10.1038/nrn2880. Review.

PMID:
20648062
16.

Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function.

Michalakis S, Mühlfriedel R, Tanimoto N, Krishnamoorthy V, Koch S, Fischer MD, Becirovic E, Bai L, Huber G, Beck SC, Fahl E, Büning H, Paquet-Durand F, Zong X, Gollisch T, Biel M, Seeliger MW.

Mol Ther. 2010 Dec;18(12):2057-63. doi: 10.1038/mt.2010.149. Epub 2010 Jul 13.

17.

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.

18.

Occupational exposure to different levels of mixed organic solvents and colour vision impairment.

Attarchi MS, Labbafinejad Y, Mohammadi S.

Neurotoxicol Teratol. 2010 Sep-Oct;32(5):558-62. doi: 10.1016/j.ntt.2010.05.003. Epub 2010 May 21.

PMID:
20472055
19.

Gene therapy rescues cone function in congenital achromatopsia.

Komáromy AM, Alexander JJ, Rowlan JS, Garcia MM, Chiodo VA, Kaya A, Tanaka JC, Acland GM, Hauswirth WW, Aguirre GD.

Hum Mol Genet. 2010 Jul 1;19(13):2581-93. doi: 10.1093/hmg/ddq136. Epub 2010 Apr 8. Erratum in: Hum Mol Genet. 2011 Dec 15;20(24):5024.

20.

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
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