| 1 | Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. (22325361) | Audo I.... Zeitz C. | 2012 | GPR179 |
| 2 | 1 rhodopsin mutations in congenital night blindness. (20238025) | McAlear S.D.... Gross A.K. | 2010 | RHO |
| 3 | TRPM1 mutations are associated with the complete form of congenital stationary night blindness. (20300565) | Nakamura M.... Furukawa T. | 2010 | TRPM1, NYX |
| 4 | Congenital stationary night blindness in mice - a tal e of two cacna1f mutants. (20238058) | Lodha N.... Bech-Hansen N.T. | 2010 | CACNA1F |
| 5 | Vitamin A responsive night blindness in Dent's diseas e. (19444483) | Sethi S.K.... Bagga A. | 2009 | CLCN5 |
| 6 | Altered G-protein coupling in an mGluR6 point mutant associated with congenital stationary night blindness. (19666700) | Beqollari D.... Kammermeier P.J. | 2009 | GNAI1, GNAO1, GRM6 |
| 7 | TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. (19896113) | Audo I.... Zeitz C. | 2009 | TRPM1, NYX |
| 8 | A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. (18246026) | Gu Y.... Zhang Z. | 2008 | CACNA1F, NYX |
| 9 | Serum retinol binding protein as an indicator of vita min A status in cirrhotic patients with night blindness. (19568486) | Mahmood K.... Qazmi W. | 2008 | RBP4 |
| 10 | Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. (17949918) | Peloquin J.B.... McRory J.E. | 2007 | CACNA1F |
| 11 | Mutations in NYX of individuals with high myopia, but without night blindness. (17392683) | Zhang Q.... Hejtmancik J.F. | 2007 | NYX |
| 12 | Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (16960802) | Zeitz C.... Berger W. | 2006 | CACNA1F, CABP4 |
| 13 | Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. (16622103) | O'Connor E.... Trump D. | 2006 | GRM6 |
| 14 | Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. (16476079) | Hoda J.C.... Striessnig J. | 2006 | CACNA1F |
| 15 | Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? (16523234) | Ung T.... Bradshaw K. | 2005 | CACNA1F, NYX |
| 16 | Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis. (15551339) | Abramowicz M.J.... Cordonnier M. | 2005 | NYX |
| 17 | Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. (15634789) | Hoda J.C.... Striessnig J. | 2005 | CACNA1F |
| 18 | Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. (16249515) | Zeitz C.... Berger W. | 2005 | GRM6 |
| 19 | Multifocal oscillatory potentials in CSNB1 and CSNB2 type congenital stationary night blindness. (15583843) | Schuster A.... Kurtenbach A. | 2005 | CACNA1F, NYX |
| 20 | Molecular genetic study of congenital stationary night blindness (15584351) | Nakamura M.... Miyake Y. | 2004 | RDH5, CACNA1F, SAG |
| 21 | Constitutive opsin signaling: night blindness or retinal degeneration? (15059605) | Lem J.... Fain G.L. | 2004 | RHO |
| 22 | Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile. (12466267) | Ramon E.... Garriga P. | 2003 | RHO |
| 23 | A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. (12719097) | Jacobi F.K.... Pusch C.M. | 2003 | CACNA1F |
| 24 | Characterization of rhodopsin congenital night blindness mutant T94I. (12590588) | Gross A.K.... Oprian D.D. | 2003 | RHO |
| 25 | NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. (14507859) | Zeitz C.... Berger W. | 2003 | NYX |
| 26 | Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy. (12208270) | Nakamura M.... Miyake Y. | 2002 | CACNA1F |
| 27 | Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness (12610835) | Miyake Y. | 2002 | CACNA1F, CACNA1D, NYX |
| 28 | Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. (12397430) | Jacobi F.K.... Pusch C.M. | 2002 | NYX |
| 29 | A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. (11281458) | Boycott K.M.... Bech-Hansen N.T. | 2001 | CACNA1F |
| 30 | Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. (11381068) | Nakamura M.... Miyake Y. | 2001 | CACNA1F |
| 31 | Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. (10982042) | Jacobi F.K.... Pusch C.M. | 2000 | GPR34 |
| 32 | Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. (11078833) | Dryja T.P. | 2000 | RDH5, CACNA1F, RHO |
| 33 | Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. (10900517) | Boycott K.M.... Bech-Hansen N.T. | 2000 | CACNA1F |
| 34 | A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. (9888392) | Al-Jandal N.... Kenna P.F. | 1999 | RHO |
| 35 | The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. (9931340) | Feng L.... Swank R.T. | 1999 | AP3B1 |
| 36 | Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) (10549660) | Chen J.... LaVail M.M. | 1999 | SAG, GRK1 |
| 37 | Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. (9501174) | Khani S.C.... Vogt T.M. | 1998 | GRK1 |
| 38 | Loss-of-function mutations in a calcium-channel alpha 1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. (9662400) | Bech-Hansen N.T.... Boycott K.M. | 1998 | CACNA1F |
| 39 | Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. (9501883) | Sippel K.C.... Dryja T.P. | 1998 | SAG |
| 40 | Hyporetinolemia, illness symptoms, and acute phase pr otein response in pregnant women with and without night blindness. (9625099) | Christian P.... West K.P. | 1998 | CRP |
| 41 | Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect. (9808841) | Aguirre G.D.... Acland G.M. | 1998 | RPE65 |
| 42 | Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. (8673138) | Dryja T.P.... Arnaud B. | 1996 | RHO, GNAT1 |
| 43 | Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. (8933343) | Bergen A.A.... de Jong P.T. | 1996 | CACNA1F |
| 44 | Characterization of the mutant visual pigment responsible for congenital night blindness: a biochemical and Fourier-transform infrared spectroscopy study. (8652533) | Zvyaga T.A.... Sakmar T.P. | 1996 | RHO |
| 45 | Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region. (7633454) | Bergen A.A.... Tijmes N. | 1995 | CACNA1F |
| 46 | Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. (7550309) | Jacobson S.G.... Stone E.M. | 1995 | TIMP3 |
| 47 | Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. (8004102) | Gal A.... Rosenberg T. | 1994 | PDE6B |
| 48 | Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. (8107847) | Rao V.R.... Oprian D.D. | 1994 | RHO |
| 49 | Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. (8358437) | Dryja T.P.... Oprian D.D. | 1993 | RHO |
| 50 | Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. (2667510) | Weleber R.G.... Buist N.R. | 1989 | OED |
