全部文献期刊会议图书|学者科研项目
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作者:... Frank G. Holz , Robert E. MacLaren , Peter Charbel Issa
来源:[J].American Journal of Ophthalmology(IF 3.631), 2019, Vol.199, pp.19-27
摘要:Purpose(#br)To investigate near-infrared fundus autofluorescence (NIR-AF) characteristics in patients with choroideremia and to correlate these with anatomic and functional parameters.(#br)Design(#br)Retrospective, observational case series.(#br)Methods(#br)In this multicent...
作者:Peter Charbel Issa , Tjebo F.C. Heeren ...
来源:[J].American Journal of Ophthalmology(IF 3.631), 2018
摘要:Purpose(#br)To evaluate macular pigment distribution pattern as a prognostic marker for disease progression in patients with macular telangiectasia type 2 (MacTel).(#br)Design(#br)Retrospective cohort study(#br)Methods(#br)In this single-center study, 90 eyes of 47 patients ...
作者:... G. Darius Hildebrand , Martin Gliem , Peter Charbel Issa
来源:[J].American Journal of Ophthalmology(IF 3.631), 2019, Vol.208, pp.87-93
摘要:Purpose(#br)To assess whether near infrared autofluorescence (NIR-AF) imaging is a useful imaging modality in the diagnosis of handheld laser retinal injuries.(#br)Design(#br)Retrospective observational case series.(#br)Methods(#br)Twelve patients identified to have handheld lase...
作者:... Camiel J.F. Boon , Bernd Hoppe , Peter Charbel Issa
来源:[J].American Journal of Ophthalmology(IF 3.631), 2019, Vol.206, pp.184-191
摘要:Purpose(#br)To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity.(#br)Design(#br)Retrospective, cross-sectional, multicenter study of the Oxal...
作者:Peter Charbel Issa , Samantha R De Silva ...
来源:[J].PLoS ONE(IF 3.73), 2017, Vol.8 (4)
摘要:Adeno-associated viral vectors (AAV) have been shown to be safe in the treatment of retinal degenerations in clinical trials. Thus, improving the efficiency of viral gene delivery has become increasingly important to increase the success of clinical trials. In this study, structu...
作者:Peter Charbel Issa , Nadjib Schahab ...
来源:[J].PLoS ONE(IF 3.73), 2017, Vol.11 (9)
摘要:Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical d...
作者:... Bernhard H.F. Weber , Frank G. Holz , Peter Charbel Issa
来源:[J].Ophthalmology(IF 5.563), 2015, Vol.122 (8), pp.1555-1562
摘要:Purpose(#br)To investigate the association of reticular pseudodrusen (RPD) with Sorsby fundus dystrophy (SFD).(#br)Design(#br)Prospective, monocenter, cross-sectional case series.(#br)Subjects(#br)Sixteen patients of 4 unrelated families with SFD caused by mutations in TIMP3...
作者:... Elisabeth Mangold , Hanno J. Bolz , Peter Charbel Issa
来源:[J].Scientific Reports(IF 2.927), 2018, Vol.8 (1), pp.819-826
摘要:Abstract(#br)Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for iden...

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