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Items: 1 to 20 of 125

1.

Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.

Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J.

Am J Ophthalmol. 2012 Dec;154(6):987-1001.e1. doi: 10.1016/j.ajo.2012.06.003.

3.

Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.

Vincent A, Héon E.

Eye (Lond). 2012 Sep;26(9):1278-80. doi: 10.1038/eye.2012.125. No abstract available.

4.

Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

Huynh N, Jeffrey BG, Turriff A, Sieving PA, Cukras CA.

Ophthalmic Genet. 2014 Mar;35(1):51-6. doi: 10.3109/13816810.2013.865762.

PMID:
24397708
5.

Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.

Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH.

Am J Ophthalmol. 2012 Jan;153(1):143-54.e2. doi: 10.1016/j.ajo.2011.06.018.

6.

Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.

Qian H, Ji R, Gregg RG, Peachey NS.

Vis Neurosci. 2015 Jan;32:E004. doi: 10.1017/S0952523815000012.

7.

A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.

Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K.

Ophthalmology. 2007 Jan;114(1):134-41.

PMID:
17070587
8.

A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.

Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF.

Mol Vis. 2005 Nov 14;11:977-85.

9.

The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.

Skorczyk-Werner A, Kocięcki J, Wawrocka A, Wicher K, Krawczyńiski MR.

Klin Oczna. 2015;117(1):27-30.

PMID:
26349155
10.

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.

Orhan E, Prézeau L, El Shamieh S, Bujakowska KM, Michiels C, Zagar Y, Vol C, Bhattacharya SS, Sahel JA, Sennlaub F, Audo I, Zeitz C.

Invest Ophthalmol Vis Sci. 2013 Dec 9;54(13):8041-50. doi: 10.1167/iovs.13-12610.

PMID:
24222301
11.

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.

Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002.

PMID:
23714322
12.

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR.

Acta Ophthalmol. 2012 May;90(3):e192-7. doi: 10.1111/j.1755-3768.2011.02267.x.

13.

Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.

Hayashi T, Tsuzuranuki S, Kozaki K, Urashima M, Tsuneoka H.

Ophthalmic Res. 2011 Oct;46(4):175-80. doi: 10.1159/000325024.

PMID:
21447990
14.

Spectral-domain optical coherence tomography findings in the Mizuo-Nakamura phenomenon of Oguchi disease.

Takada M, Otani A, Ogino K, Yoshimura N.

Retina. 2011 Mar;31(3):626-8. doi: 10.1097/IAE.0b013e318206cd52. No abstract available.

PMID:
21336075
15.

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.

16.

Fundus albipunctatus associated with compound heterozygous mutations in RPE65.

Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.

Ophthalmology. 2011 May;118(5):888-94. doi: 10.1016/j.ophtha.2010.09.005.

PMID:
21211845
17.

Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease.

Yamada K, Motomura Y, Matsumoto CS, Shinoda K, Nakatsuka K.

Jpn J Ophthalmol. 2009 Sep;53(5):449-51. doi: 10.1007/s10384-009-0708-1.

PMID:
19847595
18.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium., Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I.

Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023.

19.

Oguchi disease masked by retinitis pigmentosa.

Sonoyama H, Shinoda K, Ishigami C, Tada Y, Ideta H, Ideta R, Takahashi M, Miyake Y.

Doc Ophthalmol. 2011 Oct;123(2):127-33. doi: 10.1007/s10633-011-9286-x.

PMID:
21922265
20.

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

Zeitz C, Robson AG, Audo I.

Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Review.

PMID:
25307992

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