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Items: 1 to 20 of 131

1.

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. Epub 2012 Jun 29. No abstract available.

2.

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T.

Invest Ophthalmol Vis Sci. 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445.

3.

Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.

Al Oreany AA, Al Hadlaq A, Schatz P.

Graefes Arch Clin Exp Ophthalmol. 2016 Oct;254(10):1951-1956. Epub 2016 Apr 15.

PMID:
27084085
4.

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. Epub 2012 Sep 7.

5.
6.

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
7.

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. Epub 2011 Sep 13.

8.

Visual signal pathway reorganization in the Cacna1f mutant rat model.

Tao Y, Chen T, Liu B, Xue JH, Zhang L, Xia F, Pang JJ, Zhang ZM.

Invest Ophthalmol Vis Sci. 2013 Mar 19;54(3):1988-97. doi: 10.1167/iovs.12-10706.

PMID:
23425697
9.

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. Epub 2014 Jan 7.

PMID:
24397708
10.

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. Epub 2013 May 25.

PMID:
23714322
11.

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.

12.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA.

Hum Mol Genet. 2014 Mar 15;23(6):1538-50. doi: 10.1093/hmg/ddt541. Epub 2013 Oct 26.

13.

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C.

Clin Genet. 2016 Jun;89(6):690-9. doi: 10.1111/cge.12746. Epub 2016 Mar 4.

PMID:
26822852
14.

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.

Neuillé M, Cao Y, Caplette R, Guerrero-Given D, Thomas C, Kamasawa N, Sahel JA, Hamel CP, Audo I, Picaud S, Martemyanov KA, Zeitz C.

Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1768-1778. doi: 10.1167/iovs.16-20745.

15.

Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.

An J, Wang L, Guo Q, Li L, Xia F, Zhang Z.

J Neurogenet. 2012 Sep;26(3-4):363-73. doi: 10.3109/01677063.2012.684416. Epub 2012 Jul 16.

PMID:
22800190
16.

Keeping the balance.

Tom Dieck S.

Channels (Austin). 2013 Nov-Dec;7(6):418-9. doi: 10.4161/chan.26925.

PMID:
24722264
17.

Congenital stationary night blindness: mutation update and clinical variability.

Lodha N, Loucks CM, Beaulieu C, Parboosingh JS, Bech-Hansen NT.

Adv Exp Med Biol. 2012;723:371-9. doi: 10.1007/978-1-4614-0631-0_48. No abstract available.

PMID:
22183355
18.

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, Apfelstedt-Sylla E, Pusch CM.

Am J Ophthalmol. 2003 May;135(5):733-6.

PMID:
12719097
19.

Childhood retinal dystrophies: what's in a name?

Traboulsi EI.

Br J Ophthalmol. 2013 Mar;97(3):247. doi: 10.1136/bjophthalmol-2012-302703. Epub 2012 Dec 13. No abstract available.

PMID:
23242674
20.

Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.

An J, Zhang L, Jiao B, Lu F, Xia F, Yu Z, Zhang Z.

Gene. 2015 May 15;562(2):210-9. doi: 10.1016/j.gene.2015.02.073. Epub 2015 Mar 4.

PMID:
25748727

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