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OBJECTIVE To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). DESIGN Retrospective case series. PARTICIPANTS Ten patients with ARB from 7 different families. METHODS All patients underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, and(More)
A highly informative set of 16 microsatellite markers was used to fingerprint 695 apple accessions from eight Dutch collections. Among the total sample, 475 different genotypes were distinguished based on multi-locus microsatellite variation, revealing a potential redundancy within the total sample of 32%. The majority of redundancies were found between(More)
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All known inherited retinal disease genes (n = 111) were captured(More)
We evaluated the influence of the use of the Newcastle disease virus (NDV)-strains Ulster and La Sota in the haemagglutination inhibition (HI) assay for the measurement of antibody titres after NDV vaccination. The use of the homologous La Sota antigen in the HI assay after Clone30 and La Sota vaccination of SPF-chickens, resulted in significantly higher(More)
PURPOSE To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus albipunctatus (FAP). DESIGN Case series/observational study. PARTICIPANTS We included 13 patients affected by RPA or FAP. METHODS Thirteen patients were collected from 8 families with a retinal dystrophy(More)
During online hemodiafiltration, patients are directly infused with sterile substitution solutions to maintain fluid balance. Adequate water treatment and a well-organized quality control process are essential to provide non-pyrogenic fluids with consistent optimal quality. We sought to assess water quality, the water treatment system, and the methods for(More)
OBJECTIVE To describe cases of intra-orbital knife blade foreign body following stabs to the orbit, together with a novel technique for removal. METHODS Retrospective case series of 3 patients. RESULTS All 3 patients had knife blades embedded in the orbit as a result of assault. The blades assumed the same direction within the orbit with varying degrees(More)
The membrane toxin VII2 from the venom of Naja mossambica mossambica was investigated in aqueous solution by one-dimensional and two-dimensional high-resolution nuclear magnetic resonance (NMR) techniques at 360 MHz. The spectral characterization included identification of the complete spin systems for several amino acid residues, nuclear Overhauser effect(More)