标题
Genotype–phenotype associations in a large
PRPH2
‐related retinopathy cohort
作者
关键词
-
出版物
HUMAN MUTATION
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2020-06-13
DOI
10.1002/humu.24065
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
- (2019) Jasdeep S Gill et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
- (2018) Sean V Tavtigian et al. GENETICS IN MEDICINE
- Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
- (2018) Johannes Birtel et al. Scientific Reports
- ClinVar at five years: Delivering on the promise
- (2018) Melissa J. Landrum et al. HUMAN MUTATION
- Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
- (2018) Artur V. Cideciyan et al. NATURE MEDICINE
- Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
- (2017) Caroline Van Cauwenbergh et al. PLoS One
- Crystal Structure of a Full-Length Human Tetraspanin Reveals a Cholesterol-Binding Pocket
- (2016) Brandon Zimmerman et al. CELL
- PRPH2/RDS and ROM-1: Historical context, current views and future considerations
- (2016) Michael W. Stuck et al. PROGRESS IN RETINAL AND EYE RESEARCH
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies
- (2015) Suma P. Shankar et al. JAMA Ophthalmology
- Rim formation is not a prerequisite for distribution of cone photoreceptor outer segment proteins
- (2014) Shannon M. Conley et al. FASEB JOURNAL
- Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS
- (2014) S. M. Conley et al. HUMAN MOLECULAR GENETICS
- Tetraspanins at a glance
- (2014) S. Charrin et al. JOURNAL OF CELL SCIENCE
- Causes and consequences of inherited cone disorders
- (2014) Susanne Roosing et al. PROGRESS IN RETINAL AND EYE RESEARCH
- PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG
- (2014) Rola Ba-Abbad et al. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
- Protter: interactive protein feature visualization and integration with experimental proteomic data
- (2013) Ulrich Omasits et al. BIOINFORMATICS
- eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing
- (2013) D Blain et al. CLINICAL GENETICS
- Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease
- (2013) Jacques Zaneveld et al. Science China-Life Sciences
- Smelling the roses and seeing the light: gene therapy for ciliopathies
- (2013) Jeremy C. McIntyre et al. TRENDS IN BIOTECHNOLOGY
- Retinal Blinding Disorders and Gene Therapy - Molecular and Clinical Aspects
- (2012) Birgit Lorenz et al. CURRENT GENE THERAPY
- eyeGENE(R)
- (2012) Kerry E. Goetz et al. CURRENT OPINION IN OPHTHALMOLOGY
- Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis
- (2011) Isabelle Meunier et al. OPHTHALMOLOGY
- Biochemical Analysis of Phenotypic Diversity Associated with Mutations in Codon 244 of the Retinal Degeneration Slow Gene
- (2010) Shannon M. Conley et al. BIOCHEMISTRY
- Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS
- (2010) Dibyendu Chakraborty et al. HUMAN MOLECULAR GENETICS
- Genomics in the Era of Molecular Ophthalmology
- (2008) Brian P. Brooks ARCHIVES OF OPHTHALMOLOGY
- DNA sequencing by synthesis with degenerate primers
- (2008) Chao Tang et al. Journal of Genetics and Genomics
- The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
- (2008) Camiel J.F. Boon et al. PROGRESS IN RETINAL AND EYE RESEARCH
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now