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The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. Pusch CM, et al. Nat Genet. 2000 Nov;26(3):324-7. doi: 10.1038/81627. Nat Genet. 2000. PMID: 11062472
X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia, nystagmus and reduced visual acuity. ...This gene, designated NYX, encodes a p …
X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic visi …
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. ...In addition, two-point linkage analysis was …
A number of distinct, partly non-overlapping genetic loci have been reported for the complete type of X-linked congenital …
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Bech-Hansen NT, et al. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947. Nat Genet. 1998. PMID: 9662400
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. ...Mutation analysis of this new alpha1-sub …
X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disor …
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.
Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG. Bech-Hansen NT, et al. Hum Genet. 1998 Aug;103(2):124-30. doi: 10.1007/s004390050794. Hum Genet. 1998. PMID: 9760193
In studying a large family of Mennonite ancestry, we have confirmed linkage between the locus (CSNB2) for incomplete CSNB and genetic markers in the Xp11 region. In particular, lod scores of 12.25 and 15.26 at zero recombination were observed between CSNB2 and the m …
In studying a large family of Mennonite ancestry, we have confirmed linkage between the locus (CSNB2) for incomplete CSNB and genetic marker …
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM. Jacobi FK, et al. Graefes Arch Clin Exp Ophthalmol. 2002 Oct;240(10):822-8. doi: 10.1007/s00417-002-0562-z. Epub 2002 Sep 21. Graefes Arch Clin Exp Ophthalmol. 2002. PMID: 12397430
PURPOSE: To describe the clinical phenotype of the complete type of X-linked congenital stationary night blindness (CSNB1) with different types of mutations in the NYX gene. ...RESULTS: Parameters were quantitatively analyzed based on the …
PURPOSE: To describe the clinical phenotype of the complete type of X-linked congenital stationary night …
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. Boycott KM, et al. Hum Genet. 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461. Hum Genet. 2001. PMID: 11281458
Incomplete X-linked congenital stationary night blindness (CSNB) is a recessive, non-progressive eye disorder characterized by abnormal electroretinogram and psychophysical testing and can include impaired night vision, decreased visual a …
Incomplete X-linked congenital stationary night blindness (CSNB) is a recessive, non-progressive e …
Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
Jensen H, Warburg M, Sjö O, Schwartz M. Jensen H, et al. J Med Genet. 1995 May;32(5):348-51. doi: 10.1136/jmg.32.5.348. J Med Genet. 1995. PMID: 7616540 Free PMC article.
Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have been mapped to Xp11.3. ...We examined 16 boys with DMD/BMD (Becker muscular dystrophy) of whom 10 had negative ERGs, eight of them having delet …
Aland Island eye disease (AIED) and X linked congenital stationary night blindness (CSNB) have bee …
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.
Zeitz C, Scherthan H, Freier S, Feil S, Suckow V, Schweiger S, Berger W. Zeitz C, et al. Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4184-91. doi: 10.1167/iovs.03-0251. Invest Ophthalmol Vis Sci. 2003. PMID: 14507859 Free article.
PURPOSE: The complete type of X-linked congenital stationary night blindness (CSNB1) in human and mouse is caused by mutations in the NYX gene. ...In the current study, these computer predictions were verified experimentally by exp …
PURPOSE: The complete type of X-linked congenital stationary night blindness (CSNB1) in human and …
Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.
Naylor MJ, Rancourt DE, Bech-Hansen NT. Naylor MJ, et al. Genomics. 2000 Jun 15;66(3):324-7. doi: 10.1006/geno.2000.6204. Genomics. 2000. PMID: 10873387
The mutant L-type calcium channel alpha(1)-subunit gene, CACNA1F, was recently identified as the gene responsible for incomplete X-linked congenital stationary night blindness. The 6070-bp mRNA transcript is predicted to encode a 1 …
The mutant L-type calcium channel alpha(1)-subunit gene, CACNA1F, was recently identified as the gene responsible for incomplete X- …
Localization of nyctalopin in the mammalian retina.
Morgans CW, Ren G, Akileswaran L. Morgans CW, et al. Eur J Neurosci. 2006 Mar;23(5):1163-71. doi: 10.1111/j.1460-9568.2006.04647.x. Eur J Neurosci. 2006. PMID: 16553780
Complete X-linked congenital stationary night blindness (CSNB1) is a hereditary visual disease characterized by abnormalities in both the dark- and light-adapted electroretinogram, consistent with a defect in synaptic transmission between …
Complete X-linked congenital stationary night blindness (CSNB1) is a hereditary visual disease cha …
15 results