Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes

scientific article published on 01 January 2016

Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/978-3-319-17121-0_23
P698PubMed publication ID26427408

P50authorSamuel G. JacobsonQ42410256
P2093author name stringArtur V Cideciyan
Sharon B Schwartz
Alexander Sumaroka
Wei Chieh Huang
Rebecca Sheplock
Hyun Ju Nam
P2860cites workDetermining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutantsQ36709692
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directionsQ37652856
Treatment possibilities for retinitis pigmentosaQ42852876
Leber congenital amaurosis: from darkness to spotlightQ45880092
Retinal optogenetic therapies: clinical criteria for candidacyQ45886746
Histopathology of the human retina in retinitis pigmentosaQ77057686
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal laminationQ28191585
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy successQ33771032
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosisQ33845544
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapyQ33992484
Leber congenital amaurosis: genes, proteins and disease mechanismsQ34796759
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse modelQ35221208
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa familiesQ35591700
TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular conesQ36086392
Reduction of all-trans-retinal in vertebrate rod photoreceptors requires the combined action of RDH8 and RDH12.Q36098059
P407language of work or nameEnglishQ1860
P921main subjectLeber congenital amaurosisQ1811132
P304page(s)169-175
P577publication date2016-01-01
P1433published inAdvances in Experimental Medicine and BiologyQ4686385
P1476titleLeber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes
P478volume854

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cites work (P2860)
Q36079288Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population
Q90399579Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber's Congenital Amaurosis Patient With Novel RPE65 Mutations
Q41362538In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.
Q90152961Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
Q38558467Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee
Q32186770Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells.
Q92850956Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

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