Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
about
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaREEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.A Brain-Derived Neurotrophic Factor Mimetic Is Sufficient to Restore Cone Photoreceptor Visual Function in an Inherited Blindness Model.A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.Cis-regulatory landscapes of four cell types of the retina.Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.NMNAT1 variants cause cone and cone-rod dystrophy.Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.Transcripts within rod photoreceptors of the Zebrafish retina.Relative frequency of inherited retinal dystrophies in BrazilNon-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in causing severe retinitis pigmentosaNovel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa
P2860
Q29147466-68923D62-9420-43D1-B91E-D87C76C9BDB8Q38802085-CAA968BF-FDC3-4E2B-909F-C1AEA830F642Q38970287-A1D1D503-B135-4F8A-B93D-3091F8D8891BQ41195219-B8DD5165-C7F0-4083-9720-EA5FA85EB5B7Q46538670-981C152A-CE2D-413F-A0A7-D0D12C29AC81Q46728670-6CAD1D1F-8760-46C4-9AD3-692581BF400AQ47153384-66297F40-5CA4-4238-B920-720F3C7A66C7Q47168920-13F5F927-D15F-4633-A338-895A9216BD98Q47443760-3DA62B36-8065-4352-B25B-A6CBA369C334Q48220798-4B227987-41EC-4EB5-A78A-728C0234E8DAQ49364256-307E830E-8769-44A2-A993-529FF4C4846AQ49886082-F9176424-1A4F-47EE-B6CA-7F7070A3B26AQ58107199-B203B715-9649-48CF-9AE6-36E2A26AF5E7Q58724745-072624CF-42D1-4975-9231-246FFC143E00Q58780671-291CA28F-B1AB-42F0-9823-77AF1124844D
P2860
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
description
2015 nî lūn-bûn
@nan
2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@ast
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@en
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@nl
type
label
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@ast
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@en
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@nl
prefLabel
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@ast
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@en
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@nl
P2093
P2860
P1476
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
@en
P2093
Bruce Bennetts
Dale C Wright
John R Grigg
Robyn V Jamieson
P2860
P304
P356
10.3978/J.ISSN.2224-4336.2015.04.03
P407
P577
2015-04-01T00:00:00Z