Variable phenotype of Pierson syndrome.

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Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. J Korean Med Sci (2009) 0.79

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A milder variant of Pierson syndrome. Pediatr Nephrol (2007) 1.02

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82

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Identification of genetic loci associated with Helicobacter pylori serologic status. JAMA (2013) 3.15

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57

BRAF and KRAS mutations in prostatic adenocarcinoma. Int J Cancer (2006) 2.45

Poor functional status as a risk factor for surgical site infection due to methicillin-resistant Staphylococcus aureus. Infect Control Hosp Epidemiol (2008) 2.33

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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21

Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism. Ophthalmology (2007) 1.88

Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab (2011) 1.82

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A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71

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A case of erdheim-chester disease with asymptomatic renal involvement. Cancer Res Treat (2012) 1.64

Pancreatic development and disease. Gastroenterology (2007) 1.62

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat (2010) 1.59

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

NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53

Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. J Am Soc Nephrol (2010) 1.53

Serotonin transporters in the midbrain of Parkinson's disease patients: a study with 123I-beta-CIT SPECT. J Nucl Med (2003) 1.53

A nationwide study of mass urine screening tests on Korean school children and implications for chronic kidney disease management. Clin Exp Nephrol (2012) 1.50

Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant (2007) 1.46

Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46

Can conventional magnetic resonance imaging, prostate needle biopsy, or their combination predict the laterality of clinically localized prostate cancer? Urology (2012) 1.44

Risk factors associated with sclerotomy leakage and postoperative hypotony after 23-gauge transconjunctival sutureless vitrectomy. Retina (2009) 1.41

Biochemical and functional characterization of germ line KRAS mutations. Mol Cell Biol (2007) 1.41

Localized non-conventional renal cell carcinoma: prediction of clinical outcome according to histology. Int J Urol (2013) 1.41

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet (2011) 1.41

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest (2011) 1.39

Effects of anesthetic agents and fasting duration on 18F-FDG biodistribution and insulin levels in tumor-bearing mice. J Nucl Med (2005) 1.39

Empirical antimicrobial therapy for bloodstream infection due to methicillin-resistant Staphylococcus aureus: no better than a coin toss. Infect Control Hosp Epidemiol (2009) 1.38

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Expression of interleukin-13 receptor alpha2 in glioblastoma multiforme: implications for targeted therapies. Cancer Res (2007) 1.33

High incidence of PRSS1 and SPINK1 mutations in Korean children with acute recurrent and chronic pancreatitis. J Pediatr Gastroenterol Nutr (2011) 1.30

Clinical and financial outcomes due to methicillin resistant Staphylococcus aureus surgical site infection: a multi-center matched outcomes study. PLoS One (2009) 1.28

Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol (2008) 1.27

The effect of surgical site infection on older operative patients. J Am Geriatr Soc (2009) 1.24

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A (2009) 1.24

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. Hum Mutat (2010) 1.24

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

Mutations in GRIP1 cause Fraser syndrome. J Med Genet (2012) 1.20

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. J Med Genet (2007) 1.18

Hematuria and proteinuria in a mass school urine screening test. Pediatr Nephrol (2005) 1.17

The safety and efficacy of transconjunctival sutureless 23-gauge vitrectomy. Korean J Ophthalmol (2007) 1.16

The deadly toll of invasive methicillin-resistant Staphylococcus aureus infection in community hospitals. Clin Infect Dis (2008) 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

A prototype MR insertable brain PET using tileable GAPD arrays. Med Phys (2013) 1.15

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet (2007) 1.15

No evidence for mouse pancreatic beta-cell epithelial-mesenchymal transition in vitro. Diabetes (2007) 1.14

Initial postoperative deviation as a predictor of long-term outcome after surgery for intermittent exotropia. J AAPOS (2011) 1.13

Effect of nosocomial bloodstream infections on mortality, length of stay, and hospital costs in older adults. J Am Geriatr Soc (2014) 1.12

Theranostic probe based on lanthanide-doped nanoparticles for simultaneous in vivo dual-modal imaging and photodynamic therapy. Adv Mater (2012) 1.11

An unexpected new role of mutant Ras: perturbation of human embryonic development. J Mol Med (Berl) (2007) 1.11

TMPRSS2-ERG gene fusion and clinicopathologic characteristics of Korean prostate cancer patients. Urology (2010) 1.11

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet (2011) 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

A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatr Res (2005) 1.10

Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A (2007) 1.09

Primary focal segmental glomerular sclerosis in children: clinical course and prognosis. Pediatr Nephrol (2006) 1.09

Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol (2007) 1.09

Dent-2 disease: a mild variant of Lowe syndrome. J Pediatr (2009) 1.09

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet (2007) 1.08

Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet (2011) 1.08

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A (2009) 1.07

Long-term results of bilateral congenital cataract treated with early cataract surgery, aphakic glasses and secondary IOL implantation. Acta Ophthalmol (2010) 1.07

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2. Nephrol Dial Transplant (2006) 1.07

Secondary macular hole formation after vitrectomy. Retina (2010) 1.07

Unilateral renal angiodysplasia in a girl with hypertension. Pediatr Nephrol (2005) 1.06

18F-FDG PET in patients with esophageal squamous cell carcinoma undergoing curative surgery: prognostic implications. J Nucl Med (2004) 1.06

Protective effect of clusterin from oxidative stress-induced apoptosis in human retinal pigment epithelial cells. Invest Ophthalmol Vis Sci (2009) 1.06

Augmented 18F-FDG uptake in activated monocytes occurs during the priming process and involves tyrosine kinases and protein kinase C. J Nucl Med (2004) 1.06

Prognostic significance of vascular endothelial growth factor expression and microvessel density in esophageal squamous cell carcinoma: comparison with positron emission tomography. Ann Surg Oncol (2006) 1.06

Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. Pediatr Nephrol (2007) 1.05

Idiopathic membranous nephropathy in children. Pediatr Nephrol (2006) 1.05