Jacobi,
Andréasson,
Langrova,
Meindl,
Zrenner,
Apfelstedt-Sylla,
Pusch,
Bech-Hansen,
Naylor,
Maybaum,
Sparkes,
Koop,
Birch,
Bergen,
Prinsen,
Polomeno,
Gal,
Drack,
Musarella,
Jacobson,
Young,
Weleber,
Bradshaw,
Allen,
Trump,
Hardcastle,
George,
Moore,
Scholl,
Langrová,
Pusch,
Wissinger,
Zrenner,
Apfelstedt-Sylla,
Zeitz,
Minotti,
Feil,
Mátyás,
Cremers,
Hoyng,
Berger,
Allen,
Zito,
Bradshaw,
Patel,
Bird,
Fitzke,
Yates,
Trump,
Hardcastle,
Moore,
Pérez-Márquez,
Reguillo,
Paniagua,
Zeitz,
Scherthan,
Freier,
Feil,
Suckow,
Schweiger,
Berger,
Bech-Hansen,
Cockfield,
Liu,
Logan,
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Bech-Hansen, N.T., Naylor, M.J., Maybaum, T.A., Sparkes, R.L., Koop, B., Birch, D.G., Bergen, A.A., Prinsen, C.F., Polomeno, R.C., Gal, A., Drack, A.V., Musarella, M.A., Jacobson, S.G., Young, R.S., Weleber, R.G. Nat. Genet. (2000)
- The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Tremblay, F., Laroche, R.G., De Becker, I. Vision Res. (1995)
- Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick. Bech-Hansen, N.T., Cockfield, J., Liu, D., Logan, C.C. Mamm. Genome (2005)
- Keratoconus associated with CSNB1. Nguyen, D.Q., Hemmerdinger, C., Hagan, R.P., Brown, M.C., Quah, S.A., Kaye, S.B. The British journal of ophthalmology (2007)
- The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Pusch, C.M., Zeitz, C., Brandau, O., Pesch, K., Achatz, H., Feil, S., Scharfe, C., Maurer, J., Jacobi, F.K., Pinckers, A., Andreasson, S., Hardcastle, A., Wissinger, B., Berger, W., Meindl, A. Nat. Genet. (2000)
- Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. Bech-Hansen, N.T., Pearce, W.G. Am. J. Hum. Genet. (1993)
- Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. O'Connor, E., Eisenhaber, B., Dalley, J., Wang, T., Missen, C., Bulleid, N., Bishop, P.N., Trump, D. Hum. Mol. Genet. (2005)
- Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. Khan, N.W., Kondo, M., Hiriyanna, K.T., Jamison, J.A., Bush, R.A., Sieving, P.A. J. Neurophysiol. (2005)
- Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. Hardcastle, A.J., David-Gray, Z.K., Jay, M., Bird, A.C., Bhattacharya, S.S. Invest. Ophthalmol. Vis. Sci. (1997)
- 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. Invest. Ophthalmol. Vis. Sci. (2003)
- 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, F.P., Hoyng, C.B., Berger, W. Mol. Vis. (2005)
- Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Jacobi, F.K., Andréasson, S., Langrova, H., Meindl, A., Zrenner, E., Apfelstedt-Sylla, E., Pusch, C.M. Graefes Arch. Clin. Exp. Ophthalmol. (2002)
- Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. Allen, L.E., Zito, I., Bradshaw, K., Patel, R.J., Bird, A.C., Fitzke, F., Yates, J.R., Trump, D., Hardcastle, A.J., Moore, A.T. The British journal of ophthalmology. (2003)
- Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? Ung, T., Allen, L.E., Moore, A.T., Trump, D., Yates, J., Bradshaw, K. Documenta ophthalmologica. Advances in ophthalmology. (2005)
- Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. Scholl, H.P., Langrová, H., Pusch, C.M., Wissinger, B., Zrenner, E., Apfelstedt-Sylla, E. Invest. Ophthalmol. Vis. Sci. (2001)
- Cloning of the cDNA and mRNA expression of CLRP, a complex leucine repeat protein of the Golgi apparatus expressed by specific neurons of the rat brain. Pérez-Márquez, J., Reguillo, B., Paniagua, R. J. Neurobiol. (2002)
- Localization of nyctalopin in the mammalian retina. Morgans, C.W., Ren, G., Akileswaran, L. Eur. J. Neurosci. (2006)
- Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. Jacobi, F.K., Broghammer, M., Pesch, K., Zrenner, E., Berger, W., Meindl, A., Pusch, C.M. Hum. Genet. (2000)
- CSNB1 in Chinese families associated with novel mutations in NYX. Xiao, X., Jia, X., Guo, X., Li, S., Yang, Z., Zhang, Q. J. Hum. Genet. (2006)
- A comparison of ERG abnormalities in XLRS and XLCSNB. Bradshaw, K., Allen, L., Trump, D., Hardcastle, A., George, N., Moore, A. Documenta ophthalmologica. Advances in ophthalmology. (2004)
- Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. Bahadori, R., Biehlmaier, O., Zeitz, C., Labhart, T., Makhankov, Y.V., Forster, U., Gesemann, M., Berger, W., Neuhauss, S.C. Eur. J. Neurosci. (2006)