CERKL Mutations and Associated Phenotypes in Seven Spanish Families with Autosomal Recessive Retinitis Pigmentosa
Avila-Fernandez et al.
IOVS 2008;49:2709-2713.
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A Common Founder Mutation of CERKL Underlies Autosomal Recessive Retinal Degeneration with Early Macular Involvement among Yemenite Jews
Auslender et al.
IOVS 2007;48:5431-5438.
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Homozygosity for a Novel ABCA4 Founder Splicing Mutation Is Associated with Progressive and Severe Stargardt-like Disease
Beit-Ya'acov et al.
IOVS 2007;48:4308-4314.
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Spectrum of the ABCA4 Gene Mutations Implicated in Severe Retinopathies in Spanish Patients
Valverde et al.
IOVS 2007;48:985-990.
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Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families
Ebenezer et al.
IOVS 2005;46:1891-1898.
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A detailed phenotypic study of "cone dystrophy with supernormal rod ERG"
Michaelides et al.
Br. J. Ophthalmol. 2005;89:332-339.
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A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1
Michaelides et al.
Br. J. Ophthalmol. 2005;89:198-206.
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Acute zonal occult outer retinopathy: towards a set of diagnostic criteria
Francis et al.
Br. J. Ophthalmol. 2005;89:70-73.
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Progressive Cone Dystrophy Associated with Mutation in CNGB3
Michaelides et al.
IOVS 2004;45:1975-1982.
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An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta
Michaelides et al.
J. Med. Genet. 2004;41:468-473.
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Oligocone trichromacy: a rare and unusual cone dysfunction syndrome
Michaelides et al.
Br. J. Ophthalmol. 2004;88:497-500.
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Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
Johnson et al.
J. Med. Genet. 2004;41:e20-20.
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Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the {alpha}-subunit of cone specific transducin (GNAT2)
Michaelides et al.
Br. J. Ophthalmol. 2003;87:1317-1320.
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An Early-Onset Autosomal Dominant Macular Dystrophy (MCDR3) Resembling North Carolina Macular Dystrophy Maps to Chromosome 5
Michaelides et al.
IOVS 2003;44:2178-2183.
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An Autosomal Dominant Bull's-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4
Michaelides et al.
IOVS 2003;44:1657-1662.
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Clinical Variations in Assessment of Bull's-eye Maculopathy
Kurz-Levin et al.
Arch Ophthalmol 2002;120:567-575.
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Autosomal Dominant Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase 2D Gene Encoding Retinal Guanylate Cyclase-1
Downes et al.
Arch Ophthalmol 2001;119:1667-1673.
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Electrophysiological Effects of Corticosteroids on the Retinal Pigment Epithelium
Arndt et al.
IOVS 2001;42:472-475.
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Autosomal Dominant Cone and Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase Activator 1A Gene-Encoding Guanylate Cyclase Activating Protein-1
Downes et al.
Arch Ophthalmol 2001;119:96-105.
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Normal Electro-oculogram in a Patient With Vitelliruptive Macular Dystrophy and Multiple Vitelliform Cysts
Arend et al.
Arch Ophthalmol 2000;118:1460-1461.
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Outer retinal dysfunction in patients treated with vigabatrin
Arndt et al.
Neurology 1999;52:1201-1201.
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Cone-Rod Dystrophy With Serpentine-like Retinal Deposits
Kellner
Arch Ophthalmol 1998;116:1307-1313.
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Electrophysiological evaluation of visual loss in Muller cell sheen dystrophy
Kellner et al.
Br. J. Ophthalmol. 1998;82:650-654.
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