|1.||Zeitz, Christina: 5 articles (03/2014 - 12/2009)|
|2.||Archer, Sheila: 5 articles (01/2013 - 11/2007)|
|3.||Audo, Isabelle: 4 articles (03/2014 - 12/2009)|
|4.||Bellone, Rebecca R: 4 articles (01/2013 - 08/2008)|
|5.||Forsyth, George: 4 articles (01/2013 - 08/2008)|
|6.||Lancelot, Marie-Elise: 3 articles (03/2014 - 08/2010)|
|7.||Koschak, Alexandra: 3 articles (07/2013 - 10/2004)|
|8.||Sandmeyer, Lynne: 3 articles (01/2013 - 08/2008)|
|9.||Grahn, Bruce: 3 articles (01/2013 - 08/2008)|
|10.||Mohand-Saïd, Saddek: 3 articles (01/2012 - 12/2009)|
01/01/2007 - "This study was designed to test the possibility that mutations in the NYX gene might cause high myopia without congenital stationary night blindness (CSNB). "
06/16/1986 - "Congenital stationary night blindness with myopia: a clinico-pathologic study."
04/01/1983 - "Previous studies have reported that subjects affected with congenital stationary night blindness and myopia demonstrated some photopic (cone) abnormalities in their electroretinogram (ERG). "
01/01/2015 - "Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia. "
05/01/2013 - "The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. "
|2.||Night Blindness (Nyctalopia)
01/01/1996 - "The goal of this study was to describe a family with X-linked congenital stationary night blindness (CSNB) in which 3 brothers had similar symptoms: night blindness, reduced visual acuity and "negative" type of Flash ERG. "
01/01/2014 - "Furthermore, human TRPM1 mutations are associated with congenital stationary night blindness (CSNB), whose patients lack rod function and suffer from night blindness starting in early childhood. "
08/01/2009 - "With congenital stationary night blindness (CSNB), the finding of youngsters who are clearly capable of mobility at night and the fact that the term night blindness refers to a function instead of a disorder forces us even more to reconsider nomenclature."
03/01/2002 - "A 30-year-old male with a history of night blindness, several members of his family, a patient with "complete" congenital stationary night blindness (CSNB1), and groups of age-similar control subjects. "
12/01/1997 - "X-linked congenital stationary night blindness (CSNBX) is a nonprogressive disease causing night blindness and reduced visual acuity. "
|3.||Retinitis Pigmentosa (Pigmentary Retinopathy)
01/01/2014 - "This work discusses the chaotic aspect of the ERG signal for the controls, congenital stationary night blindness (CSNB), and cone-rod dystrophy (CRD) classes. "
06/01/2013 - "Mutations of G90 cause either retinitis pigmentosa (RP) or congenital stationary night blindness (CSNB), a milder, non-progressive form of RP. "
01/01/2012 - "Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa."
09/01/2011 - "Finally, as these and other reflectance changes may be an indicator of photoreceptor function, a future extension of this method will be to analyze this behavior in patients with rod photoreceptor dysfunction (e.g., retinitis pigmentosa, Usher's syndrome, and congenital stationary night blindness)."
01/01/2007 - "Originally identified in 1997 from the human genome project, several reports have since been published describing mutations in the CACNA1F gene encoding Ca(v)1.4 channels, and implicated these mutations in human disorders such as X-linked cone rod dystrophy (CORDX3) and incomplete X-linked congenital stationary night blindness type 2 (CSNB2). "
|4.||Eye Diseases (Eye Disease)
01/01/2011 - "A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family."
12/01/1993 - "The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). "
11/01/1993 - "Linkage data place Aland Island eye disease and congenital stationary night blindness at Xp11, whereas our patients had deletions at Xp21. "
11/01/1993 - "Our original report suggested a diagnosis of Aland Island eye disease, which appears to be an incomplete form of congenital stationary night blindness. "
08/01/1989 - "From our case and review of the literature, Aland Island eye disease and incomplete congenital stationary night blindness appear indistinguishable. "
01/01/2013 - "Recent studies demonstrate that mutations in the TRPM1 gene underlie the inherited retinal disease complete congenital stationary night blindness in humans and depolarizing bipolar cell dysfunction in the mouse retina, but auditory function was not assessed. "
01/01/2013 - "Congenital stationary night blindness (CSNB) is a rare retinal disease caused by mutations in genes involved in phototransduction cascade and signaling from photoreceptors to adjacent neurons in the retina. "
12/01/2009 - "Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. "
03/01/2007 - "Mutations in the beta-subunit of cGMP-phosphodiesterase (PDE6beta) can lead to either progressive retinal disease, such as human retinitis pigmentosa (RP), or stationary disease, such as congenital stationary night blindness (CSNB). "
01/01/1990 - "The approach is illustrated with a class of hypotheses that places the decrease in sensitivity with retinal disease at the rod receptors and with data from patients with retinitis pigmentosa and congenital stationary night blindness. "
|2.||Rhodopsin (Visual Purple)
|3.||L-Type Calcium Channels (Dihydropyridine Receptor)
|5.||Episodic ataxia with nystagmus
|7.||Q-Type Calcium Channels (Q-Type Calcium Channel)
|9.||GTP-Binding Proteins (G-Protein)
|10.||Complementary DNA (cDNA)