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CEP290
Leber Congenital Amaurosis Due to CEP290 Mutations – Severe Vision Impairment with a High Unmet Medical Need: a Review Author and Journal Details: Bart P
Clinical Utility Gene Card For: Joubert Syndrome - Update 2013
Ciliary Genes Arl13b, Ahi1 and Cc2d2a Differentially Modify Expression of Visual Acuity
Distinguishing the Four Genetic Causes of Jouberts Syndrome-Related
Information Sheet on Ciliopathy Testing
CEP290 Gene Centrosomal Protein 290
Thumb Duplication: Molecular Analysis of Different Clinical Types
CEP290 돌연변이로 인해 발생한 Joubert 증후군 말기 신부전 1례
Ciliopathies
Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome
Highly Sensitive Diagnosis of 43 Monogenic Forms
LCA) Anna Skorczyk‑Werner1* , Zuzanna Niedziela1,2, Marcin Stopa2 and Maciej Robert Krawczyński1,3
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
(PKD2), Eccentric (XNTA), and Meckelin (MKS3) in the Ciliated Model Organism Paramecium Tetraurelia Megan Smith Valentine University of Vermont
HHS Public Access Author Manuscript
Comprehensive Genotyping Reveals RPE65 As the Most Frequently Mutated Gene in Leber Congenital Amaurosis in Denmark
Congenital Stationary Night Blindness; RS: Retinoschisis
Kidneyseq™: a Comprehensive Inherited Kidney Disease Panel Iowa Institute of Human Genetics
Top View
CEP290-Specific CRISPR Medicine for the Treatment of Leber Congenital Amaurosis 10 (LCA10)
The Centrosomal Protein Nephrocystin-6 Is Mutated in Joubert Syndrome and Activates Transcription Factor ATF4
Primary Cilia Control Hedgehog Signaling During Muscle Differentiation and Are Deregulated in Rhabdomyosarcoma
The N-Terminal Region of Centrosomal Protein 290 (CEP290) Restores Vision in a Zebrafish Model of Human Blindness
Ciliary Genes Arl13b, Ahi1 and Cc2d2a Differentially
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort
Founder Mutations and Genotype-Phenotype Correlations In
Analysis of Human Samples Reveals Impaired SHH-Dependent Cerebellar Development in Joubert Syndrome/Meckel Syndrome
Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone
Identifying Genetic Factors That Contribute to the Increased Risk of Congenital Heart Defects in Infants with Down Syndrome Cristina E
Nphp1 Invs (Nphp2) Nphp3 Nphp4 Nphp5 (Iqcb1) Nphp6 (Cep290) Tmem67 (Nphp11)
CEP290 Myosin-Tail Homology Domain Is Essential for Protein Confinement Between Inner and Outer Segments in Photoreceptors
Bardet Biedl Syndrome
Superresolution Microscopy Reveals Photoreceptor-Specific Subciliary Location
Cep290 and the Primary Cilium- Understanding the Protein's Role in Ciliary Health and Disease
Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic
Centrosomal-Ciliary Gene CEP290/NPHP6 Mutations Result
Intraflagellar Transport at a Glance Limin Hao and Jonathan M
The Expanded BXD Family of Mice: a Cohort for Experimental Systems
Downloaded from Placed in a Duplication Node More Closely Related to the the Gene Ontology’S Archive of MGI Gafs [52]
Defining the Molecular Mechanisms of Cep290 Disease Pathogenesis
Mutation Overview and Presentation of Cep290base Frauke Coppieters, Steve Lefever, Bart P
Prospective Evaluation of Kidney Disease in Joubert Syndrome
The Role of Musashi-1 in CEP290 C.2991+1655A>G Cryptic Exon
Focus on CEP290, RPGR and Their Interacting Proteins Rivka a Rachel, Tiansen Li and Anand Swaroop*
High NPHP1 and NPHP6 Mutation Rate in Patients With
Increasing the Yield in Targeted Next-Generation Sequencing By
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 C.4723A > T Mutation
Leber Congenital Amaurosis and Other Autosomal
ARTICLE CEP290 Mutations Are Frequently Identified in the Oculo
Supplemental Data
CEP290 Gene Transfer Rescues Leber Congenital Amaurosis Cellular Phenotype
Insights Into the Pathogenesis of Polycystic Kidney Disease from Gene Discovery
Exploring the Spectrum of Kidney Ciliopathies
A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders
Bardet–Biedl Syndrome—Multiple Kaleidoscope Images: Insight Into Mechanisms of Genotype–Phenotype Correlations