Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

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http://www.wikidata.org/entity/Q51006557
Stem Cell Therapy for Treatment of Ocular DisordersApplication of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingMutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesPanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaEfficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.Novel mutations in PDE6B causing human retinitis pigmentosaIdentification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaHigh prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.Gene Augmentation Therapy for a Missense Substitution in the cGMP-Binding Domain of Ovine CNGA3 Gene Restores Vision in Day-Blind Sheep.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Gene panel sequencing in Brazilian patients with retinitis pigmentosa.Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
P2860

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

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http://www.wikidata.org/entity/Q51006557
description
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Targeted Next-Generation Seque ...... igmentosa in Spanish Patients.
@en
Targeted Next-Generation Seque ...... igmentosa in Spanish Patients.
@nl
type
label
Targeted Next-Generation Seque ...... igmentosa in Spanish Patients.
@en
Targeted Next-Generation Seque ...... igmentosa in Spanish Patients.
@nl
prefLabel
Targeted Next-Generation Seque ...... igmentosa in Spanish Patients.
@en
Targeted Next-Generation Seque ...... igmentosa in Spanish Patients.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
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P577
P698
P356
P1433
P1476
Targeted Next-Generation Seque ...... Pigmentosa in Spanish Patients
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698