about
Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletionsZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesMutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementMutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationMutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaMutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfectaprp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeastMutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosaPAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factorAssociation between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.Proteomic profiling of the retinal dysplasia and degeneration chick retina.Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.The effect of COMT Val158Met and DRD2 C957T polymorphisms on executive function and the impact of early life stress.A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa.Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy.Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.Analysis of candidate genes for macular telangiectasia type 2Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.The influence of lamellar orientation on corneal material behavior: biomechanical and structural changes in an avian corneal disorder.Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaGenetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacityVariability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.An x-ray scattering study into the structural basis of corneal refractive function in an avian modelA missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
P50
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P50
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hulumtues
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Chris F Inglehearn
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Chris F Inglehearn
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Chris F Inglehearn
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Chris F Inglehearn
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Chris F Inglehearn
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Chris F. Inglehearn
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Chris F. Inglehearn
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Christopher F Inglehearn
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Chris F Inglehearn
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Chris F Inglehearn
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Chris F. Inglehearn
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P106
P1153
7005833622
P2031
1989-01-01T00:00:00Z
P21
P31
P496
0000-0002-5143-2562