Related references
Note: Only part of the references are listed.The genetics of rod-cone dystrophy in Arab countries: a systematic review
Lama Jaffal et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Mor Hanany et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
Frans P. M. Cremers et al.
PROGRESS IN RETINAL AND EYE RESEARCH (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)
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants
Marta Del Pozo-Valero et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2020)
Genetic testing for inherited eye conditions in over 6,000 individuals through theeyeGENEnetwork
Kerry E. Goetz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2020)
Genomic Landscape of Sporadic Retinitis Pigmentosa Findings from 877 Spanish Cases
Inmaculada Martin-Merida et al.
OPHTHALMOLOGY (2019)
Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa
Danial Roshandel et al.
INTERNATIONAL OPHTHALMOLOGY (2019)
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Min Seok Kim et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2019)
Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population
Akiko Maeda et al.
JAPANESE JOURNAL OF OPHTHALMOLOGY (2018)
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Iker Sanchez-Navarro et al.
SCIENTIFIC REPORTS (2018)
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Johannes Birtel et al.
SCIENTIFIC REPORTS (2018)
Relative frequency of inherited retinal dystrophies in Brazil
Fabiana Louise Motta et al.
SCIENTIFIC REPORTS (2018)
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
Inmaculada Martin-Merida et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Nereida Bravo-Gil et al.
SCIENTIFIC REPORTS (2017)
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants
Bohdan Kousal et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2016)
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
Amit Tiwari et al.
SCIENTIFIC REPORTS (2016)
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families
Sheila Castro-Sanchez et al.
JOURNAL OF MEDICAL GENETICS (2015)
Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients
Fiona Blanco-Kelly et al.
JAMA OPHTHALMOLOGY (2015)
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing
Xiu-Feng Huang et al.
GENETICS IN MEDICINE (2015)
Prevalence of Generalized Retinal Dystrophy in Denmark
Mette Bertelsen et al.
OPHTHALMIC EPIDEMIOLOGY (2014)
Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
Rosa Riveiro-Alvarez et al.
OPHTHALMOLOGY (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)
CRB1 Mutations in Inherited Retinal Dystrophies
Kinga Bujakowska et al.
HUMAN MUTATION (2012)
Identification of an RP1 Prevalent Founder Mutation and Related Phenotype in Spanish Patients with Early-Onset Autosomal Recessive Retinitis
Almudena Avila-Fernandez et al.
OPHTHALMOLOGY (2012)
Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa
Dikla Bandah-Rozenfeld et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Genetic Structure of the Spanish Population
Javier Gayan et al.
BMC GENOMICS (2010)
The USH2A c. 2299delG mutation: dating its common origin in a Southern European population
Elena Aller et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Novel mutations in of the ABCR gene in italian patients with Stargardt disease
I. Passerini et al.
EYE (2010)
Retinitis pigmentosa and allied conditions today: a paradigm of translational research
Carmen Ayuso et al.
GENOME MEDICINE (2010)
Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod-Cone Dystrophy Patients
Isabelle Audo et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
R. Riveiro-Alvarez et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2009)
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP):: a comprehensive study of 43 Italian families -: art. no. e47
C Ziviello et al.
JOURNAL OF MEDICAL GENETICS (2005)
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa
BJ Seyedahmadia et al.
EXPERIMENTAL EYE RESEARCH (2004)
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)
M Tuson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
K Mykytyn et al.
NATURE GENETICS (2002)
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
A Rivera et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Identification of novel USH2A mutations:: implications for the structure of USH2A protein
B Dreyer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Share Paper
