Published in Am J Med Genet A on May 15, 2004
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet (2014) 1.03
Distal arthrogryposis type 2A may be associated with juvenile glaucoma. Am J Med Genet A (2005) 0.75
Neutrophil function in inflammation and inflammatory diseases. Rheumatology (Oxford) (2010) 2.25
Mutations in the chromatin-associated protein ATRX. Hum Mutat (2008) 2.12
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. Am J Med Genet A (2014) 2.02
Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series. Cornea (2016) 1.96
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Cytogenetics of uveal melanoma: a 7-year clinical experience. Ophthalmology (2007) 1.68
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet (2011) 1.65
Spontaneous resolution of serous maculopathy associated with optic disc pit in a child: a case report. J AAPOS (2002) 1.57
Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child (2010) 1.47
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A (2013) 1.46
The use of silicone oil-RMN3 (Oxane HD) as heavier-than-water internal tamponade in complicated inferior retinal detachment surgery. Graefes Arch Clin Exp Ophthalmol (2010) 1.45
Amyoplasia associated with a balanced de novo insertion of a segment of the long arm of chromosome 5 into chromosome 2. Am J Med Genet (2002) 1.42
Fine-Needle Diathermy Guided by Angiography. Cornea (2015) 1.39
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
Monosomy 3 in uveal melanoma: correlation with clinical and histologic predictors of survival. Invest Ophthalmol Vis Sci (2003) 1.34
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod (2008) 1.23
Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci (2004) 1.19
Presymptomatic diagnosis of bronchogenic carcinoma associated with bilateral diffuse uveal melanocytic proliferation. Clin Experiment Ophthalmol (2006) 1.19
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. Orphanet J Rare Dis (2014) 1.12
Synovial fluid neutrophils transcribe and express class II major histocompatibility complex molecules in rheumatoid arthritis. Arthritis Rheum (2003) 1.12
Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A (2009) 1.11
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. Invest Ophthalmol Vis Sci (2013) 1.08
Ultrathin Grafts for DSAEK With a Single Microkeratome Pass. Cornea (2016) 1.08
Analysis of SF and plasma cytokines provides insights into the mechanisms of inflammatory arthritis and may predict response to therapy. Rheumatology (Oxford) (2011) 1.07
Spontaneous resolution of descemet membrane detachment after deep anterior lamellar keratoplasty. Cornea (2006) 1.04
Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome. J AAPOS (2004) 1.03
The effect of monocularly and binocularly induced astigmatic blur on depth discrimination is orientation dependent. Optom Vis Sci (2005) 1.03
Genetic characterization indicates that a specific subpopulation of Pseudomonas aeruginosa is associated with keratitis infections. J Clin Microbiol (2011) 1.02
Bullous keratopathy and corneal decompensation secondary to iridoschisis: a clinicopathological report. Cornea (2005) 1.02
Expression of ADAMTS metalloproteinases in the retinal pigment epithelium derived cell line ARPE-19: transcriptional regulation by TNFalpha. Biochim Biophys Acta (2003) 1.01
Effect of intraocular surgery and ketamine on aqueous and serum cytokines. Mol Vis (2007) 1.01
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet (2012) 1.01
Genotypic and phenotypic characteristics of Pseudomonas aeruginosa isolates associated with ulcerative keratitis. J Med Microbiol (2005) 1.01
Penetrating and deep anterior lamellar keratoplasty for keratoconus: a comparison of graft outcomes in the United kingdom. Invest Ophthalmol Vis Sci (2009) 1.01
Expression of hypoxia-inducible factor-1alpha and -2alpha in human choroidal neovascular membranes. Graefes Arch Clin Exp Ophthalmol (2009) 1.00
Differential role of neutrophil Fcgamma receptor IIIB (CD16) in phagocytosis, bacterial killing, and responses to immune complexes. Arthritis Rheum (2002) 1.00
Protein localization in the human eye and genetic screen of opticin. Hum Mol Genet (2002) 0.98
Neutrophil apoptosis in rheumatoid arthritis is regulated by local oxygen tensions within joints. J Leukoc Biol (2006) 0.97
Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology (2011) 0.96
Noncontiguous tumor recurrence of posterior uveal melanoma after transscleral local resection. Arch Ophthalmol (2002) 0.94
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. Hum Genet (2009) 0.94
An in vitro investigation of synergy or antagonism between antimicrobial combinations against isolates from bacterial keratitis. Invest Ophthalmol Vis Sci (2010) 0.93
Unexpected intracellular localization of the AMD-associated cystatin C variant. Traffic (2004) 0.93
Changes in expression of membrane TNF, NF-{kappa}B activation and neutrophil apoptosis during active and resolved inflammation. Ann Rheum Dis (2010) 0.92
Imaging and evaluation of corneal vascularization using fluorescein and indocyanine green angiography. Invest Ophthalmol Vis Sci (2012) 0.92
Ocular and oral grading of mucous membrane pemphigoid. Graefes Arch Clin Exp Ophthalmol (2011) 0.92
Rheumatoid arthritis-associated corneal ulceration: mortality and graft survival. Ophthalmology (2013) 0.91
Pharmacokinetics of vancomycin following intracameral bolus injection in patients undergoing phacoemulsification cataract surgery. Br J Ophthalmol (2007) 0.91
Secretion of oncostatin M by neutrophils in rheumatoid arthritis. Arthritis Rheum (2004) 0.91
Terrien marginal degeneration presenting with spontaneous corneal perforation. Cornea (2006) 0.90
Sotos syndrome: two cases with severe scoliosis. Clin Dysmorphol (2002) 0.89
Evidence for persistence of adenovirus in the tear film a decade following conjunctivitis. J Med Virol (2005) 0.89
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat (2015) 0.87
SDF1-alpha is associated with VEGFR-2 in human choroidal neovascularisation. Microvasc Res (2007) 0.87
Expression of p53-induced apoptosis effector PERP in primary uveal melanomas: downregulation is associated with aggressive type. Exp Eye Res (2006) 0.87
Quantifying changes in corneal neovascularization using fluorescein and indocyanine green angiography. Am J Ophthalmol (2012) 0.86
Effect of glaucoma on corneal graft survival according to indication for penetrating keratoplasty. Am J Ophthalmol (2010) 0.86
Cystatin C in macular and neuronal degenerations: implications for mechanism(s) of age-related macular degeneration. Vision Res (2009) 0.86
Direct comparison of the migration of three cell types involved in epiretinal membrane formation. Invest Ophthalmol Vis Sci (2002) 0.85
Fibrous membranes in diabetic retinopathy and bevacizumab. Retina (2010) 0.85
Mycophenolate mofetil as an immunosuppressive agent in refractory inflammatory eye disease. J Ocul Pharmacol Ther (2006) 0.84
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A (2012) 0.84
Detection of the slipped extraocular muscle after strabismus surgery. Ophthalmology (2005) 0.84
Marginal corneal vascular arcades. Invest Ophthalmol Vis Sci (2013) 0.83
Corneal stromal cells (keratocytes) express thrombospondins 2 and 3 in wound repair phenotype. Int J Biochem Cell Biol (2002) 0.83
Expression of COX-2 and prognostic outcome in uveal melanoma. Curr Eye Res (2008) 0.83
Congenital absence of optic chiasm: demonstration of an uncrossed visual pathway using monocular flash visual evoked potentials. Doc Ophthalmol (2006) 0.83
Suppression of thrombospondin 1 and 2 production by herpes simplex virus 1 infection in cultured keratocytes. Mol Vis (2005) 0.82
Binocular visual field changes after surgery in esotropic amblyopia. Invest Ophthalmol Vis Sci (2004) 0.82
Differential expression of angioregulatory matricellular proteins in posterior uveal melanoma. Melanoma Res (2005) 0.82
Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). J Invest Dermatol (2003) 0.81
Sequential versus combined penetrating keratoplasty and cataract surgery. Optom Vis Sci (2010) 0.81
Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions. Am J Med Genet A (2013) 0.81
Long-term topical steroid treatment after penetrating keratoplasty in patients with pseudophakic bullous keratopathy. Ophthalmology (2009) 0.81
Vertical and horizontal disparity with different orientations of the TNO stereotest. Optom Vis Sci (2003) 0.81
Intraocular melanocytoma in association with bone formation. Arch Ophthalmol (2003) 0.81
Corneal topographic features in a family with nanophthalmos. Cornea (2006) 0.80
Cathepsin S and its inhibitor cystatin C: imbalance in uveal melanoma. Front Biosci (Landmark Ed) (2009) 0.80
The use of voriconazole in the treatment of Aspergillus fumigatus keratitis. Br J Ophthalmol (2007) 0.80
Quantification of the surgically induced refractive effect of intrastromal corneal ring segments in keratoconus with standardized incision site and segment size. J Cataract Refract Surg (2011) 0.80
Clinicopathological case series of four patients with inherited macular disease. Invest Ophthalmol Vis Sci (2009) 0.80
Multiple malignancies in a child with de novo TP53 mutation. Pediatr Hematol Oncol (2011) 0.79
Common and new acyclovir resistant herpes simplex virus-1 mutants causing bilateral recurrent herpetic keratitis in an immunocompetent patient. J Infect Dis (2013) 0.79
A dual Golgi- and mitochondria-localised Ala25Ser precursor cystatin C: an additional tool for characterising intracellular mis-localisation leading to increased AMD susceptibility. Exp Eye Res (2006) 0.79
Testing distance stereoacuity with the Frisby-Davis 2 (FD2) test. Am J Ophthalmol (2005) 0.79
Thimerosal-induced limbal stem cell failure: report of a case and review of the literature. Eye Contact Lens (2007) 0.78
Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting. Am J Med Genet A (2010) 0.78
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero. Eur J Med Genet (2007) 0.78
Corneal Indocyanine Green Angiography to Guide Medical and Surgical Management of Corneal Neovascularization. Cornea (2016) 0.78
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet (2012) 0.78
Iris ectopic thyroid tissue: report of a case. Arch Ophthalmol (2006) 0.78
Genotypic analysis of UK keratitis-associated Pseudomonas aeruginosa suggests adaptation to environmental water as a key component in the development of eye infections. FEMS Microbiol Lett (2012) 0.78
Intrastromal corneal ring segments: effect of relationship between alignment and topographic keratometric meridians. J Cataract Refract Surg (2012) 0.78
Localized bullous keratopathy secondary to posterior polymorphous dystrophy. Clin Experiment Ophthalmol (2008) 0.78
The effect of socioeconomic deprivation on corneal graft survival in the United Kingdom. Ophthalmology (2013) 0.78
Endothelial migration and new descemet membrane after endothelial keratoplasty. Am J Ophthalmol (2010) 0.77
A review of prenatally detected femoral abnormalities. Clin Dysmorphol (2009) 0.77