Related references
Note: Only part of the references are listed.Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
Kaoru Fujinami et al.
OPHTHALMOLOGY (2015)
NewMutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy
Rosa Riveiro-Alvarez et al.
JAMA OPHTHALMOLOGY (2015)
ISCEV Standard for full-field clinical electroretinography (2015 update)
Daphne L. McCulloch et al.
DOCUMENTA OPHTHALMOLOGICA (2015)
A relationship between tube length and intra-ocular pressure after glaucoma drainage implant surgery cannot be explained by Poiseuille's law - author's reply
Kaoru Fujinami et al.
ACTA OPHTHALMOLOGICA (2014)
A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
Shinya Yamamoto et al.
CELL (2014)
Analysis of the ABCA4 genomic locus in Stargardt disease
Jana Zernant et al.
HUMAN MOLECULAR GENETICS (2014)
Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy
Carl Schubert et al.
HUMAN MUTATION (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype
Stephen H. Tsang et al.
OPHTHALMOLOGY (2014)
Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4-Associated Retinopathies
Mette Bertelsen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Structural and Genetic Assessment of the ABCA4-Associated Optical Gap Phenotype
Kalev Noupuu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Terry A. Braun et al.
HUMAN MOLECULAR GENETICS (2013)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
Genomic approaches towards finding cis-regulatory modules in animals
Ross C. Hardison et al.
NATURE REVIEWS GENETICS (2012)
Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene
Tomas R. Burke et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Autosomal Recessive Retinitis Pigmentosa Due To ABCA4 Mutations: Clinical, Pathologic, and Molecular Characterization
Robert F. Mullins et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Analysis of the ABCA4 Gene by Next-Generation Sequencing
Jana Zernant et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease
Claudia Gonzaga-Jauregui et al.
NEUROGENETICS (2010)
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
Wener Cella et al.
EXPERIMENTAL EYE RESEARCH (2009)
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
Feng Zhang et al.
NATURE GENETICS (2009)
A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
P. J. Hastings et al.
PLOS GENETICS (2009)
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
Jennifer A. Lee et al.
CELL (2007)
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus
Camiel J. F. Boon et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2007)
De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy
Stefania Stenirri et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2006)
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina
AV Cideciyan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Genetic and phenotypic heterogeneity in pattern dystrophy
PJ Francis et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2005)
An ABCA4 genomic deletion in patients with Stargardt Disease
AN Yatsenko et al.
HUMAN MUTATION (2003)
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
AN Yatsenko et al.
HUMAN GENETICS (2001)
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)
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
A Maugeri et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Further evidence for an association of ABCR alleles with age-related macular degeneration
R Allikmets
AMERICAN JOURNAL OF HUMAN GENETICS (2000)