PubMed期刊
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作者:Vaclavik Veronika , Gaillard Marie-Claire ...
来源:[J].Molecular Vision(IF 1.987), 2010, Vol.16, pp.467-75PubMed
摘要:To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the...
作者:Vaclavik Veronika , Vujosevic Stela ...
来源:[J].Ophthalmology, 2007, Vol.115 (2), pp.342-6PubMed
摘要:To determine if integrity of the retinal pigment epithelium (RPE)/photoreceptor complex as assessed by autofluorescence imaging can be predicted on the basis of visual acuity (VA), size, or fluorescein angiographic characteristics of the lesion in the early stage of choroidal neo...
作者:Vaclavik Veronika , Ehsani Parastoo ...
来源:[J].Human Mutation, 2010, Vol.31 (5), pp.E1361-76PubMed
摘要:PRPF8-retinitis pigmentosa is said to be severe but there has been no overview of phenotype across different mutations. We screened RP patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first d...
作者:Vaclavik Veronika , Wu Huimin ...
来源:[J].Molecular Vision(IF 1.987), 2008, Vol.14, pp.683-90PubMed
摘要:Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. Missense mutations in PRPF31 have previously been shown to cause reduced protein solubility, suggesting insufficiency of functional protein as the d...
作者:Vaclavik Veronika , Sandbach Jennifer M ...
来源:[J].Investigative Ophthalmology & Visual Science(IF 3.441), 2008, Vol.49 (5), pp.2082-93PubMed
摘要:To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation.;;Patients underwent ophthalmic examination and functional testing including pattern ER...
作者:Vaclavik Veronika , Bird Alan C ...
来源:[J].Archives of Ophthalmology(IF 3.826), 2007, Vol.125 (2), pp.259-67PubMed
摘要:To describe atypical phenotypes associated with the retinoschisis (X-linked, juvenile) 1 mutation (RS1).;;Seven patients with multiple fine white dots at the macula and reduced visual acuity were evaluated. Six patients underwent pattern and full-field electroretinography (ERG). ...
作者:Vaclavik Veronika , Webster Andrew ...
来源:[J].Investigative Ophthalmology & Visual Science(IF 3.441), 2007, Vol.48 (3), pp.1330-4PubMed
摘要:Retinitis pigmentosa is a clinically and genetically heterogeneous disorder. It is characterized by progressive degeneration of the peripheral retina, leading to night blindness and loss of the peripheral visual field. PRPF31 is one of four pre-mRNA splicing factors identified as...
作者:Vaclavik Veronika , Bird Alan C ...
来源:[J].Graefe's Archive for Clinical and Experimental Ophthalmology(IF 1.932), 2007, Vol.245 (10), pp.1453-60PubMed
摘要:Patients with age-related macular degeneration (ARMD) have several imaging techniques carried out regularly. In this study we introduce a new grading model of autofluorescence images (AF), compare it with fluorescein angiography (FFA) and digital colour fundus photos (COL) and te...
作者:Vaclavik Veronika , Nagiel Aaron ...
来源:[J].Retinal cases & brief reports, 2017, Vol.11 Suppl 1, pp.S113-S120PubMed
摘要:To describe the multimodal imaging findings, including optical coherence tomography angiography analysis, and spectrum of etiologies associated with Amalric triangular choroidal infarction.;;This study is a multicenter, retrospective, observational case series review of the clini...

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