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。Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Leen Abu-Safieh et al.
GENOME RESEARCH (2013)
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
Isabelle Perrault et al.
NATURE GENETICS (2012)
NMNAT1 mutations cause Leber congenital amaurosis
Marni J. Falk et al.
NATURE GENETICS (2012)
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
Pei-Wen Chiang et al.
NATURE GENETICS (2012)
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Robert K. Koenekoop et al.
NATURE GENETICS (2012)
Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy
Panagiotis I. Sergouniotis et al.
OPHTHALMOLOGY (2012)
Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
Panagiotis I. Sergouniotis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
Karsten Boldt et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
Lin Li et al.
PLOS ONE (2011)
IQCB1 Mutations in Patients with Leber Congenital Amaurosis
Alejandro Estrada-Cuzcano et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (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)
A Novel Nonsense Mutation in CEP290 Induces Exon Skipping and Leads to a Relatively Mild Retinal Phenotype
Karin W. Littink et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
Hui Wang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Outer Retinal Tubulation A Novel Optical Coherence Tomography Finding
Sandrine A. Zweifel et al.
ARCHIVES OF OPHTHALMOLOGY (2009)
ISCEV Standard for full-field clinical electroretinography (2008 update)
M. F. Marmor et al.
DOCUMENTA OPHTHALMOLOGICA (2009)
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Anneke I. den Hollander et al.
NATURE GENETICS (2007)
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
James S. Friedman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis
SJ Bowne et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Retinal dysfunction and refractive errors: an electrophysiological study of children
DI Flitcroft et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2005)
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
AR Janecke et al.
NATURE GENETICS (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)
Progession of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus
MD Mohamed et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2003)
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
DA Thompson et al.
NATURE GENETICS (2001)
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
TP Dryja et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
A Gal et al.
NATURE GENETICS (2000)
A novel locus for Leber congenital amaurosis maps to chromosome 6q
S Dharmaraj et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
MM Sohocki et al.
NATURE GENETICS (2000)
分享论文
