Published in Mol Vis on August 04, 2008
The retinal pigment epithelium in health and disease. Curr Mol Med (2010) 1.87
CRB1 mutations in inherited retinal dystrophies. Hum Mutat (2011) 1.34
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One (2011) 1.33
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Hum Mutat (2010) 1.21
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies. Mol Vis (2014) 0.94
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. Mol Vis (2012) 0.83
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. Invest Ophthalmol Vis Sci (2015) 0.81
Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease. Sci China Life Sci (2013) 0.76
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. J Biochem (2015) 0.76
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. J Ophthalmol (2015) 0.75
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. Sci Rep (2017) 0.75
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. Mol Vis (2017) 0.75
Amino acid substitution matrices from protein blocks. Proc Natl Acad Sci U S A (1992) 61.33
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res (2003) 38.75
Predicting deleterious amino acid substitutions. Genome Res (2001) 28.95
Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet (2006) 9.80
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet (1997) 4.87
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet (2006) 4.77
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
Sequence-based prediction of pathological mutations. Proteins (2004) 2.71
Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet (2002) 2.70
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci (2000) 2.46
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet (2001) 2.40
Molecular genetics of Leber congenital amaurosis. Hum Mol Genet (2002) 2.29
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20
Prevalence of AIPL1 mutations in inherited retinal degenerative disease. Mol Genet Metab (2000) 2.07
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet (1998) 2.00
CRB1 mutation spectrum in inherited retinal dystrophies. Hum Mutat (2004) 1.75
An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol (2004) 1.73
Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genet (2000) 1.65
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nat Genet (1998) 1.60
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc Natl Acad Sci U S A (2005) 1.55
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Hum Mutat (2006) 1.40
Leber's congenital amaurosis: an update. Eur J Paediatr Neurol (2003) 1.03
Leber's congenital amaurosis. Bull Soc Belge Ophtalmol (1991) 1.02
Leber congenital amaurosis: a genetic paradigm. Ophthalmic Genet (2004) 1.00
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings. Am J Med Genet A (2005) 0.84
Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) - association with decreased enzyme function. Hum Mutat (2006) 0.83
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients. Neuropediatrics (1996) 0.82
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
Treatment outcomes and long-term survival in patients with extensively drug-resistant tuberculosis. Am J Respir Crit Care Med (2008) 2.92
Optic disc change with incipient myopia of childhood. Ophthalmology (2011) 2.77
Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology (2012) 2.18
Bilateral lateral rectus recession versus unilateral recess-resect procedure for exotropia with a dominant eye. Am J Ophthalmol (2006) 2.08
Multicenter analysis of risk factors for anastomotic leakage after laparoscopic rectal cancer excision: the Korean laparoscopic colorectal surgery study group. Ann Surg (2013) 2.08
Abducens nerve is present in patients with type 2 Duane's retraction syndrome. Ophthalmology (2011) 2.04
Resistin is secreted from macrophages in atheromas and promotes atherosclerosis. Cardiovasc Res (2005) 2.03
Differentiation of optic nerve head drusen and optic disc edema with spectral-domain optical coherence tomography. Ophthalmology (2011) 1.91
Do antiplatelets increase the risk of bleeding after endoscopic submucosal dissection of gastric neoplasms? Gastrointest Endosc (2012) 1.90
Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Ophthalmology (2007) 1.88
Activation of peroxisome proliferator-activated receptor-gamma inhibits the Runx2-mediated transcription of osteocalcin in osteoblasts. J Biol Chem (2003) 1.76
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet (2012) 1.70
Incidence and clinical features of ethambutol-induced optic neuropathy in Korea. J Neuroophthalmol (2008) 1.65
Nintendo Wii remote controllers for head posture measurement: accuracy, validity, and reliability of the infrared optical head tracker. Invest Ophthalmol Vis Sci (2012) 1.60
Blood-neural barrier: intercellular communication at glio-vascular interface. J Biochem Mol Biol (2006) 1.59
A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol (2007) 1.59
IL-6 transgenic mouse model for extraosseous plasmacytoma. Proc Natl Acad Sci U S A (2002) 1.55
Persistent diplopia after retrobulbar anesthesia. J Cataract Refract Surg (2004) 1.54
Clinical fellowship training in pathology informatics: A program description. J Pathol Inform (2012) 1.53
Positive correlation between the dysregulation of transforming growth factor-β1 and aneurysmal pathological changes in patients with Marfan syndrome. Circ J (2012) 1.52
Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci (2010) 1.51
Subclinical hypothyroidism might increase the risk of transient atrial fibrillation after coronary artery bypass grafting. Ann Thorac Surg (2009) 1.50
Obesity may not be a risk factor for idiopathic intracranial hypertension in Asians. Eur J Neurol (2008) 1.48
In a model of immunoglobulin heavy-chain (IGH)/MYC translocation, the Igh 3' regulatory region induces MYC expression at the immature stage of B cell development. Genes Chromosomes Cancer (2007) 1.46
Multiple pulmonary atypical carcinoids presenting with long-standing Cushing syndrome masked by pulmonary tuberculosis. Pathol Int (2009) 1.42
Prevalence and risk factors of osteoporosis in Korea: a community-based cohort study with lumbar spine and hip bone mineral density. Bone (2010) 1.42
[Effects of proton pump inhibitors in asthmatics with gastroesophageal reflux disease]. Korean J Gastroenterol (2011) 1.42
SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population. J Hum Genet (2010) 1.42
Risk factors associated with sclerotomy leakage and postoperative hypotony after 23-gauge transconjunctival sutureless vitrectomy. Retina (2009) 1.41
A genome-wide association study of gestational diabetes mellitus in Korean women. Diabetes (2012) 1.41
Predictive factors associated with the reversibility of post-transplantation diabetes mellitus following liver transplantation. J Korean Med Sci (2009) 1.40
Predicted pathogenic missense mutation of PGRN found in a normal control. Ann Neurol (2010) 1.38
Ghrelin stimulates proliferation and differentiation and inhibits apoptosis in osteoblastic MC3T3-E1 cells. Bone (2005) 1.37
Binocular visual acuity in intermittent exotropia: role of accommodative convergence. Am J Ophthalmol (2012) 1.36
Functional recapitulation of smooth muscle cells via induced pluripotent stem cells from human aortic smooth muscle cells. Circ Res (2009) 1.34
Cytoplasmic mislocalization of p27Kip1 protein is associated with constitutive phosphorylation of Akt or protein kinase B and poor prognosis in acute myelogenous leukemia. Cancer Res (2004) 1.30
Plasma resistin concentrations measured by enzyme-linked immunosorbent assay using a newly developed monoclonal antibody are elevated in individuals with type 2 diabetes mellitus. J Clin Endocrinol Metab (2004) 1.30
Molecular characterization of D- Korean persons: development of a diagnostic strategy. Transfusion (2005) 1.26
Long-term outcome of patients with large overcorrection following surgery for exotropia. Ophthalmologica (2005) 1.24
Congenital superior oblique palsy and trochlear nerve absence: a clinical and radiological study. Ophthalmology (2011) 1.24
Absence of the trochlear nerve in patients with superior oblique hypoplasia. Ophthalmology (2010) 1.23
Chorioretinal lesions in patients with chronic granulomatous disease. Retina (2003) 1.21
Receptor activator of nuclear factor (NF)-kappaB ligand (RANKL) increases vascular permeability: impaired permeability and angiogenesis in eNOS-deficient mice. Blood (2006) 1.20
The mitogenic and antiapoptotic actions of ghrelin in 3T3-L1 adipocytes. Mol Endocrinol (2004) 1.20
The safety and efficacy of transconjunctival sutureless 23-gauge vitrectomy. Korean J Ophthalmol (2007) 1.16
The long-term survival analysis of bilateral lateral rectus recession versus unilateral recession-resection for intermittent exotropia. Am J Ophthalmol (2011) 1.16
Presence of the abducens nerve according to the type of Duane's retraction syndrome. Ophthalmology (2005) 1.14
Initial postoperative deviation as a predictor of long-term outcome after surgery for intermittent exotropia. J AAPOS (2011) 1.13
Association of adiponectin and resistin with cardiovascular events in Korean patients with type 2 diabetes: the Korean atherosclerosis study (KAS): a 42-month prospective study. Atherosclerosis (2006) 1.13
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch Neurol (2007) 1.13
Silent giant cell arteritis in an elderly Korean woman. Korean J Ophthalmol (2013) 1.12
Differential effects of secreted frizzled-related proteins (sFRPs) on osteoblastic differentiation of mouse mesenchymal cells and apoptosis of osteoblasts. Biochem Biophys Res Commun (2007) 1.12
Glomus tumor of the stomach: a clinicopathologic analysis of 10 cases and review of the literature. Gut Liver (2012) 1.12
Clinical and genetic risk factors for type 2 diabetes at early or late post partum after gestational diabetes mellitus. J Clin Endocrinol Metab (2013) 1.11
Hemorrhagic complications of optic nerve head drusen on spectral domain optical coherence tomography. Retina (2014) 1.11
Influence of persistent submacular fluid on visual outcome after successful scleral buckle surgery for macula-off retinal detachment. Am J Ophthalmol (2008) 1.10
Long-term temporal changes of macular thickness and visual outcome after vitrectomy for idiopathic epiretinal membrane. Am J Ophthalmol (2010) 1.10
Morphologic characteristics of optic nerve head drusen on spectral-domain optical coherence tomography. Am J Ophthalmol (2013) 1.09
Characteristics of methicillin resistant Staphylococcus aureus isolated from chicken meat and hospitalized dogs in Korea and their epidemiological relatedness. Vet Microbiol (2006) 1.09
Growth kinetics and transplantation of human retinal progenitor cells. Exp Eye Res (2009) 1.09
Thioredoxin modulates activator protein 1 (AP-1) activity and p27Kip1 degradation through direct interaction with Jab1. Oncogene (2004) 1.08
Long-term results of bilateral congenital cataract treated with early cataract surgery, aphakic glasses and secondary IOL implantation. Acta Ophthalmol (2010) 1.07
Partial recovery after intraarterial pharmacomechanical thrombolysis in ophthalmic artery occlusion following nasal autologous fat injection. J Vasc Interv Radiol (2010) 1.07
Secondary macular hole formation after vitrectomy. Retina (2010) 1.07
Onion peel extracts ameliorate hyperglycemia and insulin resistance in high fat diet/streptozotocin-induced diabetic rats. Nutr Metab (Lond) (2011) 1.06
Transplantation of mesenchymal stem cells overexpressing RANK-Fc or CXCR4 prevents bone loss in ovariectomized mice. Mol Ther (2009) 1.06
Genomic profiling combined with gene expression profiling in primary central nervous system lymphoma. Blood (2010) 1.06
Protective effect of clusterin from oxidative stress-induced apoptosis in human retinal pigment epithelial cells. Invest Ophthalmol Vis Sci (2009) 1.06
Peripapillary staphyloma: clinical features and visual outcome in 19 cases. Arch Ophthalmol (2005) 1.05
Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson's disease. Mov Disord (2009) 1.05
Recruitment of pericytes and astrocytes is closely related to the formation of tight junction in developing retinal vessels. J Neurosci Res (2009) 1.04
Variable phenotype of Pierson syndrome. Pediatr Nephrol (2008) 1.04
Rapidly increasing diabetes-related mortality with socio-environmental changes in South Korea during the last two decades. Diabetes Res Clin Pract (2006) 1.03
Prismatic correction of consecutive esotropia in children after a unilateral recession and resection procedure. Ophthalmology (2012) 1.03
Intravenously administered gold nanoparticles pass through the blood-retinal barrier depending on the particle size, and induce no retinal toxicity. Nanotechnology (2009) 1.01
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A (2010) 1.01
Panax ginseng extract rich in ginsenoside protopanaxatriol offers combinatorial effects in nitric oxide production via multiple signaling pathways. Springerplus (2013) 1.01
Comparison of 1-deoxynojirimycin and aqueous mulberry leaf extract with emphasis on postprandial hypoglycemic effects: in vivo and in vitro studies. J Agric Food Chem (2011) 1.01
The expression of VEGF receptor genes is concurrently influenced by epigenetic gene silencing of the genes and VEGF activation. Epigenetics (2009) 1.01
STAT6 activation by Toxoplasma gondii infection induces the expression of Th2 C-C chemokine ligands and B clade serine protease inhibitors in macrophage. Parasitol Res (2009) 1.01
Microevolution of Outbreak-Associated Middle East Respiratory Syndrome Coronavirus, South Korea, 2015. Emerg Infect Dis (2016) 1.01
Adduction on attempted abduction: the opposite of synergistic divergence. Arch Ophthalmol (2006) 1.01
Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea. J Glaucoma (2004) 1.00
CD8brightCD56+ T cells are cytotoxic effectors in patients with active Behcet's uveitis. J Immunol (2005) 1.00
A Phase II Study of Additional Four-Week Chemotherapy With Capecitabine During the Resting Periods After Six-Week Neoadjuvant Chemoradiotherapy in Patients With Locally Advanced Rectal Cancer. Ann Coloproctol (2013) 1.00
Usefulness of MR imaging in children without characteristic clinical findings of Duane's retraction syndrome. AJNR Am J Neuroradiol (2005) 1.00
Stratus OCT in dominant optic atrophy: features differentiating it from glaucoma. J Glaucoma (2007) 1.00
Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology. Blood Res (2013) 0.99
[Detection of mycobacterium tuberculosis complex using real-time polymerase chain reaction]. Korean J Lab Med (2008) 0.98
Changes of mitochondrial DNA content in the male offspring of protein-malnourished rats. Ann N Y Acad Sci (2004) 0.98
Microarray analysis of papillary thyroid cancers in Korean. Korean J Intern Med (2010) 0.98
TIS21 negatively regulates hepatocarcinogenesis by disruption of cyclin B1-Forkhead box M1 regulation loop. Hepatology (2008) 0.98
The role of clusterin in in vitro ischemia of human retinal endothelial cells. Curr Eye Res (2007) 0.98
Anesthetic management of the emergency laparotomy for a patient with multiple sclerosis -A case report-. Korean J Anesthesiol (2010) 0.97
Induction of apoptosis by apicidin, a histone deacetylase inhibitor, via the activation of mitochondria-dependent caspase cascades in human Bcr-Abl-positive leukemia cells. Clin Cancer Res (2003) 0.97
Postprandial hypoglycemic effect of mulberry leaf in Goto-Kakizaki rats and counterpart control Wistar rats. Nutr Res Pract (2009) 0.97
Inhibitory activity of plant extracts on nitric oxide synthesis in LPS-activated macrophages. Phytother Res (2003) 0.97