Search Results - "Jagle, H."
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Orbital floor fracture repair: the endonasal approach
Published in Rhinology (01-12-2017)“…To avoid the dangers associated with lower eyelid approaches to the orbital floor and to improve visualization, we propose an endoscopic procedure for orbital…”
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CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders
Published in American journal of human genetics (01-10-2001)“…We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete…”
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TGF- Signaling Protects Retinal Neurons from Programmed Cell Death during the Development of the Mammalian Eye
Published in The Journal of neuroscience (28-08-2013)Get full text
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Macular pigment densities derived from central and peripheral spectral sensitivity differences
Published in Vision research (Oxford) (01-11-1998)“…Estimates of the density spectrum of the macular pigment (Wyszecki G, Stiles WS. Color Science: Concepts and Methods, Quantitative Data and Formulas. 1st ed…”
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Cre recombinase expression or topical tamoxifen treatment do not affect retinal structure and function, neuronal vulnerability or glial reactivity in the mouse eye
Published in Neuroscience (14-06-2016)“…Highlights • Cre or tamoxifen do not influence neuronal morphology and function. • Cre or tamoxifen do not induce macro- and microglia cell reactivity. •…”
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Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation
Published in British journal of ophthalmology (01-08-2008)“…To describe the detailed phenotypes of a multi-generation family affected by autosomal dominant cone-rod dystrophy (adCRD) and characterised by marked…”
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Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
Published in Human molecular genetics (01-09-2000)“…Achromatopsia is an autosomal recessive disorder featuring total colour blindness, photophobia, reduced visual acuity and nystagmus. While mutations in the…”
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The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia
Published in Journal of neuroinflammation (18-02-2019)“…Ligand-driven modulation of the mitochondrial translocator protein 18 kDa (TSPO) was recently described to dampen the neuroinflammatory response of microglia…”
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Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel
Published in Nature genetics (01-07-1998)“…Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM) or complete achromatopsia, is a rare, autosomal recessive inherited and…”
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A luminous efficiency function, V(lambda), for daylight adaptation
Published in Journal of vision (Charlottesville, Va.) (21-12-2005)“…We propose a new luminosity function, V*(lambda), that improves upon the original CIE 1924 V(lambda) function and its modification by D. B. Judd (1951) and J…”
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S.P.62 Ocular characteristics of Duchenne Muscular Dystrophy
Published in Neuromuscular disorders : NMD (01-10-2012)“…Abstract Electroretinogram (ERG) abnormalities have been described in Duchenne Muscular Dystrophy (DMD). Short isoforms of dystrophin are highly expressed in…”
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P16 Ocular findings in Duchenne muscular dystrophy – an observational case series
Published in Neuromuscular disorders : NMD (01-03-2012)Get full text
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Color vision and the diagnosis of reduced visual acuity
Published in Klinische Monatsblätter für Augenheilkunde (01-09-2004)“…Unexplained visual acuity loss requires a systematic approach to gather as many findings of diagnostic value as possible. Most retinal or optic nerve diseases…”
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Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa
Published in British journal of ophthalmology (01-10-2005)“…Aim: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype…”
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Red, Green, and Red-Green Hybrid Pigments in the Human Retina: Correlations between Deduced Protein Sequences and Psychophysically Measured Spectral Sensitivities
Published in The Journal of neuroscience (01-12-1998)“…To analyze the human red, green, and red-green hybrid cone pigments in vivo, we studied 41 male dichromats, each of whose X chromosome carries only a single…”
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
Published in European journal of human genetics : EJHG (01-03-2005)“…Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia,…”
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The dependence of luminous efficiency on chromatic adaptation
Published in Journal of vision (Charlottesville, Va.) (15-12-2008)“…We investigated the dependence of luminous efficiency on background chromaticity by measuring 25-Hz heterochromatic flicker photometry (HFP) matches in six…”
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V ( ): a generalized luminous efficiency function for any condition of chromatic adaptation
Published in Journal of vision (Charlottesville, Va.) (23-03-2010)“…Abstract only…”
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Reorganization of human cortical maps caused by inherited photoreceptor abnormalities
Published in Nature neuroscience (01-04-2002)“…We describe a compelling demonstration of large-scale developmental reorganization in the human visual pathways. The developmental reorganization was observed…”
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