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。Subretinal deposits in young patients treated with voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy
Jennifer Lopez et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2023)
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
Juliana M. F. Sallum et al.
ADVANCES IN THERAPY (2022)
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec
Krunoslav Stingl et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2022)
Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis
Callie Deng et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2022)
The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil
Juliana M. Ferraz Sallum et al.
OPHTHALMIC GENETICS (2022)
The Current State of Genetic Testing Platforms for Inherited Retinal Diseases br
Debarshi Mustafi et al.
OPHTHALMOLOGY RETINA (2022)
Visual Acuity, Retinal Morphology, and Patients' Perceptions after Voretigene Neparovec-rzyl Therapy for RPE65-Associated Retinal Disease
Jesse D. Sengillo et al.
OPHTHALMOLOGY RETINA (2022)
Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa
Jay Jiyong Kwak et al.
YONSEI MEDICAL JOURNAL (2022)
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study
Francesco Testa et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2022)
Perifoveal Chorioretinal Atrophy after Subretinal Voretigene Neparvovec-rzyl for RPE65-Mediated Leber Congenital Amaurosis
William S. Gange et al.
OPHTHALMOLOGY RETINA (2022)
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
Rosario Lopez-Rodriguez et al.
EXPERIMENTAL EYE RESEARCH (2021)
Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy
Albert M. Maguire et al.
MOLECULAR THERAPY (2021)
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
Feng-Juan Gao et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India
Sriee Viswarubhiny et al.
EYE AND VISION (2021)
The LOVD3 platform: efficient genome-wide sharing of genetic variants
Ivo F. A. C. Fokkema et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy
Manar Aoun et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
Andrea Sodi et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
Voretigene Neparvovec Gene Therapy in Clinical Practice: Treatment of the First Two Italian Pediatric Patients
Francesco Testa et al.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2021)
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
Leonardo Colombo et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2021)
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Josephine Prener Holtan et al.
ACTA OPHTHALMOLOGICA (2020)
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
Dror Sharon et al.
HUMAN MUTATION (2020)
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
Ke Xu et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2020)
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES
Arif O. Khan
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2020)
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing
Juan C. Zenteno et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Late presentation of RPE65 retinopathy in three siblings
Moustafa Magliyah et al.
DOCUMENTA OPHTHALMOLOGICA (2020)
LONGITUDINAL STUDY OFRPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS
Laurence H. M. Pierrache et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2020)
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
Handong Dan et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4
Atta Ur Rehman et al.
GENES (2020)
Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland
Laura Whelan et al.
GENES (2020)
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nikolas Pontikos et al.
OPHTHALMOLOGY (2020)
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates
Cecile Mejecase et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2020)
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
Nicole Weisschuh et al.
HUMAN MUTATION (2020)
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
Juliana Maria Ferraz Sallum et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2020)
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy
Sarah Hull et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2020)
Genetic spectrum of retinal dystrophies in Tunisia
Imen Habibi et al.
SCIENTIFIC REPORTS (2020)
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
Anna Skorczyk-Werner et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies
Arash Salmaninejad et al.
SCIENTIFIC REPORTS (2020)
Retinal Structure in RPE65-Associated Retinal Dystrophy
Neruban Kumaran et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2020)
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
Daniel C. Chung et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2019)
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
Christina Zeitz et al.
HUMAN MUTATION (2019)
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy
W. Bailey Glen et al.
OPHTHALMIC GENETICS (2019)
Long-Read Sequencing Emerging in Medical Genetics
Tuomo Mantere et al.
FRONTIERS IN GENETICS (2019)
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy
Unikora Yang et al.
JAMA OPHTHALMOLOGY (2019)
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Jamie M. Ellingford et al.
JOURNAL OF MEDICAL GENETICS (2018)
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent
Adda Villanueva et al.
OPHTHALMIC GENETICS (2018)
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing
N. N. Srikrupa et al.
CLINICAL GENETICS (2018)
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population Genetic and Clinical Aspects
Adva Kimchi et al.
OPHTHALMOLOGY (2018)
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives
Marina Franca Dias et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2018)
Relative frequency of inherited retinal dystrophies in Brazil
Fabiana Louise Motta et al.
SCIENTIFIC REPORTS (2018)
Clinical and genetic characteristics of leber congenital amaurosis in the Tunisian population: experience of the oculogenetic laboratory LR14SP01
ACTA OPHTHALMOLOGICA (2018)
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Lonneke Haer-Wigman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses
Hema L. Ramkumar et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2017)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Stephen Russell et al.
LANCET (2017)
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M. Stone et al.
OPHTHALMOLOGY (2017)
Four-year nationwide incidence of retinitis pigmentosa in South Korea: a population-based retrospective study from 2011 to 2014
Tyler Hyungtaek Rim et al.
BMJ OPEN (2017)
The genetic profile of Leber congenital amaurosis in an Australian cohort
Jennifer A. Thompson et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2017)
A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis
Jing Liu et al.
CHINESE MEDICAL JOURNAL (2017)
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
Neruban Kumaran et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2017)
Prevalence, Age at Diagnosis, Mortality, and Cause of Death in Retinitis Pigmentosa in Korea-A Nationwide Population-based Study
Kun-Hoo Na et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2017)
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
Galuh D. N. Astuti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands
Yan Xu et al.
EXPERIMENTAL EYE RESEARCH (2016)
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
Nicole Weisschuh et al.
PLOS ONE (2016)
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing
Bruno Maranhao et al.
PLOS ONE (2015)
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
Maleeha Maria et al.
PLOS ONE (2015)
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families
Sundaramurthy Srilekha et al.
PLOS ONE (2015)
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay
Arif O. Khan et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2014)
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
Feng Wang et al.
HUMAN GENETICS (2014)
Prevalence of Generalized Retinal Dystrophy in Denmark
Mette Bertelsen et al.
OPHTHALMIC EPIDEMIOLOGY (2014)
Systemic Diseases Associated with Retinal Dystrophies
Xiang Q. Werdich et al.
SEMINARS IN OPHTHALMOLOGY (2014)
Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
Beatrice Bocquet et al.
OPHTHALMIC EPIDEMIOLOGY (2013)
Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients
Anshuman Verma et al.
PLOS ONE (2013)
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
Tobias Eisenberger et al.
PLOS ONE (2013)
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
Artur V. Cideciyan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Comprehensive Mutation Analysis by Whole-Exome Sequencing in 41 Chinese Families With Leber Congenital Amaurosis
Yabin Chen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking
Marzio Chizzolini et al.
CURRENT GENOMICS (2011)
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
Sara J. Bowne et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65
Patrik Schatz et al.
OPHTHALMOLOGY (2011)
Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
Lin Li et al.
PLOS ONE (2011)
Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing
Maria Gonzalez-del Pozo et al.
PLOS ONE (2011)
The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation of RPE65 and Differentiation from Leber Congenital Amaurosis
Richard G. Weleber et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Genotype-Phenotype Correlation for Leber Congenital Amaurosis in Northern Pakistan
Martin McKibbin et al.
ARCHIVES OF OPHTHALMOLOGY (2010)
Prevalence of retinitis pigmentosa in Slovenia
B. Peterlin et al.
CLINICAL GENETICS (2010)
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway
J. GRøNDAHL
CLINICAL GENETICS (2010)
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
Frauke Coppieters et al.
HUMAN MUTATION (2010)
Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa
Saloni Walia et al.
OPHTHALMOLOGY (2010)
Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST)
M. Klein et al.
DOCUMENTA OPHTHALMOLOGICA (2009)
RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy
Xue Cai et al.
OPHTHALMIC GENETICS (2009)
Genetic Analysis of Indian Families with Autosomal Recessive Retinitis Pigmentosa by Homozygosity Screening
Hardeep Pal Singh et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population
Yumei Li et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Safety and efficacy of gene transfer for Leber's congenital amaurosis
Albert M. Maguire et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Screening of the RPE65 gene in the Asian Indian patients with Leber congenital amaurosis
Gandra Mamatha et al.
OPHTHALMIC GENETICS (2008)
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray
Elena Vallespin et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Leber congenital amaurosis - A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture
Edwin M. Stone
AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy
Robert H. Henderson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Human cone photoreceptor dependence on RPE65 isomerase
Samuel G. Jacobson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients
Francesca Simonelli et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa -: art. no. e67
JC Booij et al.
JOURNAL OF MEDICAL GENETICS (2005)
Evaluation of genotype-phenotype associations in Leber congenital amaurosis
JA Galvin et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2005)
Genotyping microarray (disease chip) for Leber congenital amaurosis:: Detection of modifier alleles
J Zernant et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations
K Paunescu et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2005)
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
B Lorenz et al.
OPHTHALMOLOGY (2004)
An overview of Leber congenital amaurosis: A model to understand human retinal development
RK Koenekoop
SURVEY OF OPHTHALMOLOGY (2004)
Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis
S Hanein et al.
HUMAN MUTATION (2004)
Human gene mutation database (HGMD®):: 2003 update
PD Stenson et al.
HUMAN MUTATION (2003)
Analysis of three genes in Leber congenital amaurosis in Indonesian patients
RS Sitorus et al.
VISION RESEARCH (2003)
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)
FBO Porto et al.
JOURNAL OF GENE MEDICINE (2002)
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
DA Thompson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
分享论文
