Published in J Hazard Mater on March 15, 2007
Study on bioremediation of Lead by exopolysaccharide producing metallophilic bacterium isolated from extreme habitat. Biotechnol Rep (Amst) (2017) 0.75
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet (2006) 1.77
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci (2005) 1.57
Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci (2002) 1.44
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat (2006) 1.40
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci (2006) 1.38
Mice null for Frizzled4 (Fzd4-/-) are infertile and exhibit impaired corpora lutea formation and function. Biol Reprod (2005) 1.35
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Invest Ophthalmol Vis Sci (2005) 1.33
Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cereb Cortex (2011) 1.29
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet (2006) 1.29
Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Invest Ophthalmol Vis Sci (2011) 1.27
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum Mutat (2007) 1.21
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet (2008) 1.16
Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arterioscler Thromb Vasc Biol (2006) 1.14
Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat (2007) 1.13
Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Mol Vis (2005) 1.10
Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. J Neurosci (2005) 1.10
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A (2013) 1.08
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet (2007) 1.07
Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respir Res (2007) 1.06
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein. Invest Ophthalmol Vis Sci (2003) 1.06
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis (2008) 1.05
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Invest Ophthalmol Vis Sci (2010) 1.05
Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci (2010) 1.03
Identification of the genetic defect in the original Wagner syndrome family. Mol Vis (2006) 1.03
The BDNF Val66Met polymorphism modulates sleep intensity: EEG frequency- and state-specificity. Sleep (2012) 1.02
SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clin Chem (2008) 1.00
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci (2008) 0.99
Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Invest Ophthalmol Vis Sci (2009) 0.97
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. Am J Med Genet A (2005) 0.97
Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. Genesis (2005) 0.96
Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environ Health Perspect (2008) 0.96
Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Mol Ther (2011) 0.95
Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. Eur J Neurosci (2008) 0.94
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Hum Mutat (2011) 0.94
Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respir Res (2008) 0.94
Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect (2009) 0.94
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Invest Ophthalmol Vis Sci (2003) 0.93
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Invest Ophthalmol Vis Sci (2006) 0.93
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A (2007) 0.92
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat (2009) 0.92
Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. Eur J Neurosci (2006) 0.90
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Hum Mutat (2009) 0.90
Differential gene expression in Ndph-knockout mice in retinal development. Invest Ophthalmol Vis Sci (2008) 0.89
Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biol Reprod (2008) 0.89
RPGR mutations might cause reduced orientation of respiratory cilia. Pediatr Pulmonol (2012) 0.87
Dopaminergic role in regulating neurophysiological markers of sleep homeostasis in humans. J Neurosci (2014) 0.86
Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice. Vision Res (2005) 0.85
A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Hum Gene Ther (2012) 0.83
Economic evaluation of tocilizumab combination in the treatment of moderate-to-severe rheumatoid arthritis in Italy. J Med Econ (2012) 0.83
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Hum Mol Genet (2013) 0.83
Impact of loading phase, initial response and CFH genotype on the long-term outcome of treatment for neovascular age-related macular degeneration. PLoS One (2012) 0.83
Mutation- and tissue-specific alterations of RPGR transcripts. Invest Ophthalmol Vis Sci (2009) 0.83
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Invest Ophthalmol Vis Sci (2008) 0.81
Norrin stimulates cell proliferation in the superficial retinal vascular plexus and is pivotal for the recruitment of mural cells. Hum Mol Genet (2012) 0.81
Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Hum Immunol (2010) 0.80
Genetic polymorphisms of DAT1 and COMT differentially associate with actigraphy-derived sleep-wake cycles in young adults. Chronobiol Int (2014) 0.80
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Eur J Hum Genet (2012) 0.78
Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age (Dordr) (2012) 0.78
Evaluation of leaching and extraction procedures for soil and waste. Waste Manag (2007) 0.77
Clinical observations of sertindole in 53 hospitalised patients with psychotic disorders. Clin Drug Investig (2005) 0.75
The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study. J Asthma (2013) 0.75
Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. Invest Ophthalmol Vis Sci (2002) 0.75
Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification. Reprod Biomed Online (2009) 0.75
A multi-threading architecture to support interactive visual exploration. IEEE Trans Vis Comput Graph (2009) 0.75
Effect of contact time on the release of contaminants from granular waste materials during column leaching experiments. Waste Manag (2010) 0.75
The Multi-Stimulus Box: an innovative learning device for the comparative study of object perception and recognition with various types of stimuli. Behav Res Methods (2012) 0.75
A model for structure-based comparison of many categories in small-multiple displays. IEEE Trans Vis Comput Graph (2013) 0.75