Zobrazeno 1 - 10 of 242 pro vyhledávání: '"Rg, Weleber"'
1
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
Autor: Sg, Jacobson, Av, Cideciyan, Iannaccone A, Rg, Weleber, Ga, Fishman, Am, Maguire, Lm, Affatigato, Bennett J, Eric Pierce, Danciger M, Db, Farber, Em, Stone
Publikováno v: Europe PubMed Central
To determine the disease expression in heterozygotes for mutations in the RP1 gene, a newly identified cause of autosomal dominant retinitis pigmentosa (adRP).Screening strategies were used to detect disease-causing mutations in the RP1 gene, and det
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8b6af9df91b353a46a5514458b6b0193
https://pubmed.ncbi.nlm.nih.gov/10845615
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2
Expression defect of ornithine aminotransferase gene in gyrate atrophy
Autor: Inana G, Yoshihiro Hotta, Zintz C, Takki K, Rg, Weleber, Ng, Kennaway, Nakayasu K, Nakajima A, Shiono T
Publikováno v: Europe PubMed Central
A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT: EC 2.6.1.13), is the hallmark of gyrate atrophy (GA), a hereditary degenerative disease of the choroid and retina of the eye that leads to blindness. A human OAT c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1ccbd89abc71f0081a6a479666547c46
https://pubmed.ncbi.nlm.nih.gov/3417397
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4
A deletion in the ornithine aminotransferase gene in gyrate atrophy
Autor: Akaki Y, Yoshihiro Hotta, Mashima Y, Murakami A, Ng, Kennaway, Rg, Weleber, Inana G
Publikováno v: Europe PubMed Central
Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::22e985cd9470fed3c78f751cefb3bba8
http://europepmc.org/abstract/med/1618792
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5
Akademický článek
Perimacular Atrophy Following Voretigene Neparvovec-Rzyl Treatment in the Setting of Previous Contralateral Eye Treatment With a Different Viral Vector.
Autor: Ku CA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA., Igelman AD; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Huang SJ; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Bailey ST; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Lauer AK; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Duncan JL; Department of Ophthalmology, University of California San Francisco, San Francisco, CA, USA., Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
Publikováno v: Translational vision science & technology [Transl Vis Sci Technol] 2024 Jun 03; Vol. 13 (6), pp. 11.
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6
Akademický článek
Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl.
Autor: Ku CA; Department of Ophthalmology, University of California Davis, Sacramento, CA, USA., Igelman AD; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Huang SJ; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Vasconcelos H; Department of Ophthalmology and Visual Sciences, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., da Palma MM; Department of Ophthalmology and Visual Sciences, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil., Bailey ST; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Lauer AK; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Yang P; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.
Publikováno v: Translational vision science & technology [Transl Vis Sci Technol] 2023 Apr 03; Vol. 12 (4), pp. 17.
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7
Akademický článek
Functional evaluation in inherited retinal disease.
Autor: Daich Varela M; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital City Road Campus, London, UK., Georgiou M; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital City Road Campus, London, UK.; Department of Ophthalmology, Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Hashem SA; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital City Road Campus, London, UK., Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA., Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK michel.michaelides@ucl.ac.uk.; Moorfields Eye Hospital City Road Campus, London, UK.
Publikováno v: The British journal of ophthalmology [Br J Ophthalmol] 2022 Nov; Vol. 106 (11), pp. 1479-1487. Date of Electronic Publication: 2021 Nov 25.
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8
Akademický článek
Three-Year Safety Results of SAR422459 (EIAV-ABCA4) Gene Therapy in Patients With ABCA4-Associated Stargardt Disease: An Open-Label Dose-Escalation Phase I/IIa Clinical Trial, Cohorts 1-5.
Autor: Parker MA; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Erker LR; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Audo I; INSERM, CNRS, Institut de la Vision, Sorborne Université, Paris, France (I.A., S.M.-S., P.O.-B., S.A.-S., J.A.S.)., Choi D; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.); OHSU-PSU School of Public Health, Oregon Health & Science University, Portland, Oregon, USA (D.C.)., Mohand-Said S; INSERM, CNRS, Institut de la Vision, Sorborne Université, Paris, France (I.A., S.M.-S., P.O.-B., S.A.-S., J.A.S.)., Sestakauskas K; Sanofi R&D, TA MS, Neurology, Ophthalmology and Gene Therapy Development, France (K.S., P.B., C.S.-P.)., Benoit P; Sanofi R&D, TA MS, Neurology, Ophthalmology and Gene Therapy Development, France (K.S., P.B., C.S.-P.)., Appelqvist T; Sanofi R&D, Translational Medicine and Early Development, Chilly-Mazarin (T.A.), France., Krahmer M; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Ségaut-Prévost C; Sanofi R&D, TA MS, Neurology, Ophthalmology and Gene Therapy Development, France (K.S., P.B., C.S.-P.)., Lujan BJ; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Faridi A; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.); Veterans Affairs Portland Health Care System, Portland, Oregon (A.F.)., Chegarnov EN; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Steinkamp PN; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Ku C; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., da Palma MM; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Barale PO; INSERM, CNRS, Institut de la Vision, Sorborne Université, Paris, France (I.A., S.M.-S., P.O.-B., S.A.-S., J.A.S.)., Ayelo-Scheer S; INSERM, CNRS, Institut de la Vision, Sorborne Université, Paris, France (I.A., S.M.-S., P.O.-B., S.A.-S., J.A.S.)., Lauer A; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Stout T; Cullen Eye Institute, Baylor College of Medicine, Houston, Texas (T.S.), USA., Wilson DJ; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Weleber RG; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Pennesi ME; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.)., Sahel JA; INSERM, CNRS, Institut de la Vision, Sorborne Université, Paris, France (I.A., S.M.-S., P.O.-B., S.A.-S., J.A.S.); Centre d'Investigation Clinique, Inserm-DGOS 1423, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France (J.A.S.); Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA (J.A.S.). Electronic address: sahelja@upmc.edu., Yang P; From the Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA (M.A.P., L.R.E., D.C., M.K., B.J.L., A.F., E.N.C., P.N.S., C.K., M.M.D., A.L., D.J.W., R.G.W., M.E.P., P.Y.). Electronic address: yangp@ohsu.edu.
Publikováno v: American journal of ophthalmology [Am J Ophthalmol] 2022 Aug; Vol. 240, pp. 285-301. Date of Electronic Publication: 2022 Mar 04.
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9
Akademický článek
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Autor: Solaki M; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Baumann B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Reuter P; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Andreasson S; Department of Ophthalmology, University Hospital Lund, Lund, Sweden., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET, and INSERM-DGOS CIC1423, Paris, France., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Balousha G; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine., Benedicenti F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Birch D; Retina Foundation of the Southwest, Dallas, Texas, USA., Bitoun P; Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France., Blain D; National Eye Institute/NEI, Bethesda, Maryland, USA., Bocquet B; National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France., Branham K; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA., Català-Mora J; Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Barcelona, Esplugues de Llobregat, Spain., De Baere E; Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium., Dollfus H; CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France., Falana M; Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine., Giorda R; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Bosisio Parini, Lecco, Italy., Golovleva I; Department of Medical Biosciences/Medical and Clinical Genetics, University of Umea, Umea, Sweden., Gottlob I; The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, UK., Heckenlively JR; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA., Jacobson SG; Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jones K; Retina Foundation of the Southwest, Dallas, Texas, USA., Jägle H; Department of Ophthalmology, University of Regensburg, Regensburg, Germany., Janecke AR; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Kellner U; Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany.; RetinaScience, Bonn, 53192, Germany., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Lorenz B; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany., Martorell-Sampol L; Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain., Messias A; Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil., Meunier I; National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France.; Sensgene Care Network, France., Belga Ottoni Porto F; INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, Belo Horizonte, MG, Brazil., Papageorgiou E; Department of Ophthalmology, University Hospital of Larissa, Mezourlo, Larissa, Greece., Plomp AS; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., de Ravel TJL; Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium., Reiff CM; Augenarztpraxis am Stadttheater, Freiburg, Germany., Renner AB; Augenarztpraxis Regensburg, Regensburg, Germany., Rosenberg T; Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark., Rudolph G; University Eye Hospital, Ludwig Maximilians University, Munich, Germany., Salati R; Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Bosisio Parini, Lecco, Italy., Sener EC; Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey., Sieving PA; Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, USA., Stanzial F; Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy., Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA., Tsang SH; Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative, Columbia University, New York City, New York, USA., Varsanyi B; Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary., Weleber RG; Oregon Health & Science University, Ophthalmic Genetics Service of the Casey Eye Institute, 515 SW Campus Drive, 97239, Portland, Oregon, USA., Zobor D; Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany.; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary., Stingl K; Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany., Wissinger B; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Publikováno v: Human mutation [Hum Mutat] 2022 Jul; Vol. 43 (7), pp. 832-858. Date of Electronic Publication: 2022 Apr 14.
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10
Akademický článek
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium.
Autor: Engel AL; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA., Wang Y; Department of Ophthalmology, West Virginia University, Morgantown, WV, 26506, USA; Department of Biochemistry, West Virginia University, Morgantown, WV, 26506, USA., Khuu TH; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA., Worrall E; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA., Manson MA; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA., Lim RR; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA., Knight K; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA., Yanagida A; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA., Qi JH; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, 44106, USA., Ramakrishnan A; Center for Blood Cancers and Oncology, St. David's South Austin Medical Center, Austin, TX, 78704, USA., Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97201, USA., Klein ML; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97201, USA., Wilson DJ; Casey Eye Institute, Oregon Health & Science University, Portland, OR, 97201, USA., Anand-Apte B; Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, 44106, USA., Hurley JB; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA; Department of Biochemistry, University of Washington, Seattle, WA, 98195, USA., Du J; Department of Ophthalmology, West Virginia University, Morgantown, WV, 26506, USA; Department of Biochemistry, West Virginia University, Morgantown, WV, 26506, USA. Electronic address: jianhai.du@wvumedicine.org., Chao JR; Department of Ophthalmology, University of Washington, Seattle, WA, 98109, USA. Electronic address: jrchao@uw.edu.
Publikováno v: Experimental eye research [Exp Eye Res] 2022 Feb; Vol. 215, pp. 108899. Date of Electronic Publication: 2021 Dec 17.
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