Late presentation of RPE65 retinopathy in three siblings
暂无分享,去创建一个
[1] Adam P. DeLuca,et al. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. , 2017, Ophthalmology.
[2] Kathleen A. Marshall,et al. Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial , 2017, The Lancet.
[3] Arif O. Khan,et al. Multimodal imaging in CABP4-related retinopathy , 2017, Ophthalmic genetics.
[4] D. Schorderet,et al. Identifying mutations in Tunisian families with retinal dystrophy. , 2016 .
[5] D. Schorderet,et al. Identifying mutations in Tunisian families with retinal dystrophy , 2016, Scientific Reports.
[6] Saudi Mendeliome Group. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases , 2015, Genome Biology.
[7] Mohammed Alhashem,et al. Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases , 2015, Genome Biology.
[8] A. Levin,et al. Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son , 2015, Ophthalmic genetics.
[9] Michael Bach,et al. ISCEV Standard for full-field clinical electroretinography (2015 update) , 2014, Documenta Ophthalmologica.
[10] D. Birch,et al. Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST) , 2009, Documenta Ophthalmologica.
[11] J. Lupski,et al. Mutation survey of known LCA genes and loci in the Saudi Arabian population. , 2009, Investigative ophthalmology & visual science.
[12] Shannon M. Conley,et al. RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy , 2009, Ophthalmic genetics.
[13] T. Aleman,et al. Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. , 2008, Investigative ophthalmology & visual science.
[14] C. Grimm,et al. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. , 2007, Human molecular genetics.
[15] A. J. Roman,et al. Human cone photoreceptor dependence on RPE65 isomerase , 2007, Proceedings of the National Academy of Sciences.
[16] C. Rivolta,et al. Dominant Leber congenital amaurosis, cone‐rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX , 2001, Human mutation.
[17] P. Sieving,et al. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. , 2000, Investigative ophthalmology & visual science.
[18] C. Freund,et al. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. , 1998, American journal of human genetics.
[19] E. Parelhoff,et al. Retinal dystrophy and macular coloboma , 1988, Documenta Ophthalmologica.
[20] R. Carr,et al. Leber's Congenital Amaurosis: A Retrospective Study of 33 Cases and a Histopathological Study of One Case , 1978 .
[21] A. Sorsby,et al. Retinal Aplasia as a Clinical Entity , 1960, British medical journal.
[22] Stephen H Tsang,et al. Autosomal Dominant Retinitis Pigmentosa. , 2018, Advances in experimental medicine and biology.
[23] R. Lewis,et al. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. , 2006, Investigative ophthalmology & visual science.
[24] R. Carr,et al. Macular colobomas in Leber's congenital amaurosis. , 1977, American journal of ophthalmology.
[25] R. Carr,et al. Leber's congenital amaurosis. , 1977, American journal of ophthalmology.
[26] J. François. Leber's Congenital Tapetoretinal Degeneration , 1968, International ophthalmology clinics.
[27] J. François. [LEBER'S CONGENITAL TAPETO-RETINAL DEGENERATION]. , 1963, Bulletins et memoires de la Societe francaise d'ophtalmologie.