Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1993 1
1997 1
2001 1
2002 2
2003 1
2004 1
2005 1
2019 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

12 results

Results by year

Filters applied: . Clear all
Page 1
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.
Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B. Pusch CM, et al. Int J Mol Med. 2001 Feb;7(2):155-61. doi: 10.3892/ijmm.7.2.155. Int J Mol Med. 2001. PMID: 11172618
A number of distinct, partly non-overlapping genetic loci have been reported for the complete type of X-linked congenital stationary night blindness (CSNB1), suggesting genetic heterogeneity. ...
A number of distinct, partly non-overlapping genetic loci have been reported for the complete type of X-linked congenital …
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W. Zeitz C, et al. Mol Vis. 2005 Mar 2;11:179-83. Mol Vis. 2005. PMID: 15761389 Free article.
PURPOSE: To describe the clinical features and genetic analysis of eight X-linked congenital stationary night blindness (XLCSNB) Dutch patients. ...
PURPOSE: To describe the clinical features and genetic analysis of eight X-linked congenital stationary night …
Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.
Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G. Schatz A, et al. Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1207-1215. doi: 10.1007/s00417-019-04319-w. Epub 2019 Apr 13. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 30982101
PURPOSE: To assess the pupil light response (PLR) to chromatic stimulation in patients with different types of X-linked congenital stationary night blindness (CSNB). METHODS: Eight patients with CSNB due to CACNA1F and NYX mutations were …
PURPOSE: To assess the pupil light response (PLR) to chromatic stimulation in patients with different types of X-linked con …
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT. Allen LE, et al. Br J Ophthalmol. 2003 Nov;87(11):1413-20. doi: 10.1136/bjo.87.11.1413. Br J Ophthalmol. 2003. PMID: 14609846 Free PMC article.
AIM: To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype. ...
AIM: To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with gen …
Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
Ivanova ME, Zolnikova IV, Gorgisheli KV, Atarshchikov DS, Ghosh P, Barh D. Ivanova ME, et al. Ophthalmic Genet. 2019 Dec;40(6):558-563. doi: 10.1080/13816810.2019.1698617. Epub 2019 Dec 11. Ophthalmic Genet. 2019. PMID: 31826698
Background: The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very rare genetic disease caused by mutation in the NYX gene. ...
Background: The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very …
Using mutant mice to study the role of voltage-gated calcium channels in the retina.
Ball SL, Gregg RG. Ball SL, et al. Adv Exp Med Biol. 2002;514:439-50. doi: 10.1007/978-1-4615-0121-3_26. Adv Exp Med Biol. 2002. PMID: 12596937 Review.
However, a defect in the retina-specific alpha1F subunit of an L-type VGCC results is a loss of visual sensitivity or the incomplete form of X-linked congenital stationary night blindness (CSNB2). Based on the electroretinographic phenoty …
However, a defect in the retina-specific alpha1F subunit of an L-type VGCC results is a loss of visual sensitivity or the incomplete form of …
Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia.
Dry KL, Van Dorp DB, Aldred MA, Brown J, Hardwick LJ, Wright AF. Dry KL, et al. Clin Genet. 1993 May;43(5):250-4. doi: 10.1111/j.1399-0004.1993.tb03812.x. Clin Genet. 1993. PMID: 8375106
A family is described with X-linked congenital stationary night blindness of the complete type (CSNB1) in which clinical variation between affected males resulted in diagnostic difficulties. In two affected male cousins, one had congenita …
A family is described with X-linked congenital stationary night blindness of the complete type (CS …
Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
Hardcastle AJ, David-Gray ZK, Jay M, Bird AC, Bhattacharya SS. Hardcastle AJ, et al. Invest Ophthalmol Vis Sci. 1997 Dec;38(13):2750-5. Invest Ophthalmol Vis Sci. 1997. PMID: 9418727
PURPOSE: Proximal Xp harbors many inherited retinal disorders, including retinitis pigmentosa (RP) and congenital stationary night blindness, both of which display genetic heterogeneity. X-linked congenital stationary night blindness (CSN …
PURPOSE: Proximal Xp harbors many inherited retinal disorders, including retinitis pigmentosa (RP) and congenital stationary night blindness …
Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.
Wyględowska-Promieńska D, Świerczyńska M, Śpiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smędowski A. Wyględowska-Promieńska D, et al. Int J Mol Sci. 2024 Mar 2;25(5):2928. doi: 10.3390/ijms25052928. Int J Mol Sci. 2024. PMID: 38474172 Free PMC article.
Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. ...
Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness …
12 results