Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
about
Bardet-Biedl SyndromeProgress and prospects of next-generation sequencing testing for inherited retinal dystrophyNew insights into the generation and role of de novo mutations in health and diseaseMolecular diagnosis of putative Stargardt disease by capture next generation sequencingDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeA Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degenerationMolecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingNovel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.Genes and mutations causing retinitis pigmentosa.Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeMutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsPhenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practiceMutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencingThe diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosaHigh Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical DiagnosisNovel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingNGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese familyPanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaNext-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationPhenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approachWhole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
P2860
Q26744178-3F57C9F3-2D49-43E7-80D6-B1A65E187DBAQ26782162-76F12E26-C973-4008-9467-5F0F686AD774Q28073446-CB77C320-D48E-4A4E-8CBA-BD2DA09405DDQ28538229-B05F1918-5991-441F-85FC-63FB9898275DQ28553815-FF029A2F-2F8A-479B-95B3-A6136A55E7F9Q33756026-BEE9AD4E-287C-47A7-BDFA-4E1B95D46CAFQ33767318-652DC0D4-A8D6-4B98-BBD8-3781688F1A95Q34166178-496EB3BA-1430-4511-86FA-BEF90B9BE330Q34237276-28FFA2C3-E76B-45A1-BA26-53F782793928Q34311111-D52F2975-5069-4B08-A487-A21A3819F50DQ34346276-D8473254-5D18-49DE-BF8A-99442EF581C8Q34579015-8F5943CF-CCD3-47A1-AC99-85CCA7B9285BQ34740377-94143445-0E76-4AD8-81A9-A5B56BED59DAQ34996941-59CE6474-73B8-4FBD-BD95-472082FFD3C1Q35050303-33F8EEB7-5F55-4D52-820B-D2E0C87E6E46Q35091744-32B5E8C2-CA8D-40ED-B7F9-05559513B347Q35268851-38CAD6B4-137C-40C0-9048-F7C19A284998Q35454876-78DF401F-D997-416F-A4B5-064E224DE78FQ35557013-9235FFD1-7DA6-4DB2-8784-49A99D779D2BQ35557035-357F91D6-96B7-4584-99DF-799A3127BF7AQ35686366-3E22800C-BF08-44B4-871D-7052806E03C2Q35864599-D000F2A5-A087-4F79-8944-3B02195E7D5CQ35962525-435BF063-D2E4-494A-8BAA-27E441904274Q35975825-71116393-77E6-416A-B6AB-8B4666453609Q36049811-C8F5E7C4-675B-48D6-AF0C-E43722CD3F10Q36070974-E76D975E-4241-48D4-82A9-A73CEBAE1BB0Q36176309-F5952E15-27CA-41D0-AB4E-B36AA20A98C4Q36231506-5D64ACAA-1938-4FE5-9DE7-ECCA61D3E1A0Q36371056-CD6425D4-4EA2-4078-932D-88BCB7B4C4CCQ36463209-ABE890C9-57DD-4FF2-9944-467957EFAD8AQ36497414-B14DE23C-5A3A-4258-9593-B6818E3D2147Q36501042-F753DF10-98AC-4C99-8227-CF57DBB8CDE4Q36560159-96589DC6-F2AF-4CBE-A835-39A9236395B7Q36581402-6A3CED5F-452E-44FE-86D9-29729E3AF90EQ36585048-D9425758-8371-4282-891A-45085351D47FQ36588444-D8CA88F2-9CF8-489A-9BC1-20FC2ED6EBA2Q36837649-77E50679-27F4-4590-96DB-D91A726DBEEEQ36954771-175ABB56-53D8-46B2-BA4E-1904A081DBA9Q37049729-D48667A3-26D7-4D96-9070-FECCD5BBC534Q37101463-C33E0CDB-3925-456A-92F8-D1649AEFF4E6
P2860
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Panel-based next generation se ...... ents with retinal dystrophies.
@en
Panel-based next generation se ...... ents with retinal dystrophies.
@nl
type
label
Panel-based next generation se ...... ents with retinal dystrophies.
@en
Panel-based next generation se ...... ents with retinal dystrophies.
@nl
prefLabel
Panel-based next generation se ...... ents with retinal dystrophies.
@en
Panel-based next generation se ...... ents with retinal dystrophies.
@nl
P2093
P2860
P356
P1476
Panel-based next generation se ...... ients with retinal dystrophies
@en
P2093
Andrea Sprecher
Antje Bernd
Bernd Wissinger
Charlotte Poloschek
Günther Rudolph
John Neidhardt
Julia Mohr
Max Schubach
Nicola Glöckle
Nicole Weisschuh
P2860
P2888
P304
P356
10.1038/EJHG.2013.72
P577
2013-04-17T00:00:00Z
P5875
P6179
1022933564