Found: 45
Select item for more details and to access through your institution.
Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 16007, doi. 10.3390/ijms232416007
- By:
- Publication type:
- Article
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2089, doi. 10.3390/ijms22042089
- By:
- Publication type:
- Article
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9353, doi. 10.3390/ijms21249353
- By:
- Publication type:
- Article
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 5, p. 1597, doi. 10.3390/ijms21051597
- By:
- Publication type:
- Article
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 211, doi. 10.1038/79944
- By:
- Publication type:
- Article
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 217, doi. 10.1038/13848
- By:
- Publication type:
- Article
Ten-year follow-up of two unrelated patients with Müller cell sheen dystrophy and first report of successful vitrectomy.
- Published in:
- Documenta Ophthalmologica, 2014, v. 129, n. 3, p. 191, doi. 10.1007/s10633-014-9463-9
- By:
- Publication type:
- Article
Erbliche Netzhaut‑, Aderhaut- und Sehbahnerkrankungen: S1-Leitlinie der Deutschen Ophthalmologischen Gesellschaft (DOG), der Retinologischen Gesellschaft (RG) und des Berufsverbands der Augenärzte Deutschlands e. V. (BVA). Version: 18. September 2021
- Published in:
- Die Ophthalmologie, 2023, v. 120, p. 44, doi. 10.1007/s00347-022-01777-2
- By:
- Publication type:
- Article
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 812, doi. 10.1038/ejhg.2008.23
- By:
- Publication type:
- Article
CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269
- By:
- Publication type:
- Article
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 286
- By:
- Publication type:
- Article
Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 400, doi. 10.1038/sj.ejhg.5200196
- By:
- Publication type:
- Article
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
- Published in:
- PLoS ONE, 2021, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0253987
- By:
- Publication type:
- Article
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 143, doi. 10.1172/JCI128513
- By:
- Publication type:
- Article
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Hereditary macular dystrophies.
- Published in:
- Der Ophthalmologe, 1998, v. 95, n. 9, p. 597, doi. 10.1007/s003470050321
- By:
- Publication type:
- Article
Electrophysiologic evaluation according to ISCEV standards in infants less than 10 years of age.
- Published in:
- Der Ophthalmologe, 1997, v. 94, n. 11, p. 796, doi. 10.1007/s003470050206
- By:
- Publication type:
- Article
Langzeitverlauf des Visus nach Vitrektomie bei diabetischer Retinopathie.
- Published in:
- Der Ophthalmologe, 1997, v. 94, n. 4, p. 268, doi. 10.1007/s003470050111
- By:
- Publication type:
- Article
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
- Published in:
- Ophthalmic Research, 2020, v. 63, n. 3, p. 234, doi. 10.1159/000505001
- By:
- Publication type:
- Article
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 1, p. 14, doi. 10.1002/mgg3.109
- By:
- Publication type:
- Article
A new mutation in enhanced S‐cone syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145951
- By:
- Publication type:
- Article
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 255, doi. 10.1002/humu.23920
- By:
- Publication type:
- Article
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
- Published in:
- Human Mutation, 2019, v. 40, n. 8, p. 1145, doi. 10.1002/humu.23768
- By:
- Publication type:
- Article
Next Generation Genetic Testing for Retinitis Pigmentosa.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1181, doi. 10.1002/humu.22357
- By:
- Publication type:
- Article
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
- Published in:
- Human Mutation, 2011, v. 32, n. 12, p. 1398, doi. 10.1002/humu.21580
- By:
- Publication type:
- Article
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
- Published in:
- Human Mutation, 2009, v. 30, n. 8, p. E782, doi. 10.1002/humu.21055
- By:
- Publication type:
- Article
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
- Published in:
- Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285
- By:
- Publication type:
- Article
CRB1 mutation spectrum in inherited retinal dystrophies.
- Published in:
- Human Mutation, 2004, v. 24, n. 5, p. 355, doi. 10.1002/humu.20093
- By:
- Publication type:
- Article
Screening auf Frühgeborenenretinopathie – die wichtigsten Änderungen in der neuen deutschen Leitlinie 2020.
- Published in:
- Der Ophthalmologe, 2021, v. 118, n. 12, p. 1240, doi. 10.1007/s00347-021-01393-6
- By:
- Publication type:
- Article
Therapie eines Sekundärglaukoms nach intravitrealer Anti-VEGF-Therapie mit dem XEN®-Gel-Stent und Mitomycin C.
- Published in:
- Der Ophthalmologe, 2021, v. 118, n. 11, p. 1128, doi. 10.1007/s00347-020-01265-5
- By:
- Publication type:
- Article
Augenärztliche Screening-Untersuchung bei Frühgeborenen (S2k-Level, AWMF-Leitlinien-Register-Nr. 024/010, März 2020): Gemeinsame Empfehlung von Deutsche Ophthalmologische Gesellschaft (DOG), Retinologische Gesellschaft (RG), Berufsverband der Augenärzte Deutschlands (BVA), Deutsche Gesellschaft für Kinder- und Jugendmedizin (DGKJ), Berufsverband der Kinder- und Jugendärzte e. V. (BVKJ), Bundesverband „Das frühgeborene Kind" e. V., Gesellschaft für Neonatologie und Pädiatrische Intensivmedizin (GNPI)
- Published in:
- Der Ophthalmologe, 2021, v. 118, p. 117, doi. 10.1007/s00347-021-01353-0
- By:
- Publication type:
- Article
Toxische Retinopathien.
- Published in:
- Der Ophthalmologe, 2020, v. 117, n. 12, p. 1247, doi. 10.1007/s00347-020-01260-w
- By:
- Publication type:
- Article
Klinische Erfahrung mit der Clareon®-IOL und dem AutonoMe®-Implantationssystem.
- Published in:
- Der Ophthalmologe, 2020, v. 117, n. 11, p. 1100, doi. 10.1007/s00347-020-01075-9
- By:
- Publication type:
- Article
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 13, p. 1359, doi. 10.1093/hmg/10.13.1359
- By:
- Publication type:
- Article
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1359
- By:
- Publication type:
- Article
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, 2000, v. 9, n. 14, p. 2107, doi. 10.1093/hmg/9.14.2107
- By:
- Publication type:
- Article
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #660 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/660.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 418
- By:
- Publication type:
- Article
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N
- By:
- Publication type:
- Article
Missense mutation (Arg121Trp) in the norrie disease gene associated with X-linked exudative vitreoretinopathy.
- Published in:
- Human Mutation, 1995, v. 6, n. 3, p. 257, doi. 10.1002/humu.1380060312
- By:
- Publication type:
- Article
Optical coherence tomography angiography (OCT-A) in retinitis pigmentosa and macular dystrophy patients: a retrospective study.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2022, v. 260, n. 6, p. 1923, doi. 10.1007/s00417-021-05530-4
- By:
- Publication type:
- Article
Treatment contentment and preference of patients undergoing intravitreal anti-VEGF therapy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 12, p. 3649, doi. 10.1007/s00417-021-05324-8
- By:
- Publication type:
- Article
Comparison of different screening methods for chloroquine/hydroxychloroquine retinopathy: multifocal electroretinography, color vision, perimetry, ophthalmoscopy, and fluorescein angiography.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2012, v. 250, n. 3, p. 319, doi. 10.1007/s00417-011-1753-2
- By:
- Publication type:
- Article