Zobrazeno 1 - 10
of 123 607
pro vyhledávání: '"rod"'
Autor:
Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France. Electronic address: christina.zeitz@inserm.fr., Navarro J; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Azizzadeh Pormehr L; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Mass. Eye and Ear, Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, MA., Méjécase C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Neves LM; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil., Letellier C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Albadri S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Amprou A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Ben-Yacoub T; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Wohlschlegel J; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Department of Biological Structure, University of Washington, Seattle, WA., Andrieu C; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France., Serafini M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Bianco L; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Antropoli A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Nassisi M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., El Shamieh S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Molecular Testing Laboratory, Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon., Chantot-Bastaraud S; APHP, Hôpital Armand-Trousseau, Département de Génétique, UF de Génétique Chromosomique, Paris, France., Mohand-Saïd S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France., Smirnov V; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France., Sahel JA; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA., Del Bene F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France. Electronic address: isabelle.audo@inserm.fr.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101081. Date of Electronic Publication: 2024 Jan 28.
Autor:
Rose K; Zilkha Neurogenetic Institute, Department of Physiology and Neuroscience, Keck School of Medicine of University of Southern California, Los Angeles, CA 90033, USA., Chen N; Zilkha Neurogenetic Institute, Department of Physiology and Neuroscience, Keck School of Medicine of University of Southern California, Los Angeles, CA 90033, USA., Andreev A; Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA., Chen J; Zilkha Neurogenetic Institute, Department of Physiology and Neuroscience, Keck School of Medicine of University of Southern California, Los Angeles, CA 90033, USA., Kefalov VJ; Department of Ophthalmology, Gavin Herbert Eye Institute, University of California, Irvine, Irvine CA 92697, USA., Chen J; Zilkha Neurogenetic Institute, Department of Physiology and Neuroscience, Keck School of Medicine of University of Southern California, Los Angeles, CA 90033, USA. Electronic address: jeannie@usc.edu.
Publikováno v:
Current biology : CB [Curr Biol] 2024 Apr 08; Vol. 34 (7), pp. 1492-1505.e6. Date of Electronic Publication: 2024 Mar 19.
Autor:
Aljammal R; Department of Biochemistry and Molecular Medicine, School of Medicine, West Virginia University, 64 Medical Center Dr., Morgantown, WV 26506, United States.; Department of Ophthalmology and Visual Sciences, One Stadium Dr, West Virginia University, Morgantown, WV 26506, United States., Saravanan T; Department of Biochemistry and Molecular Medicine, School of Medicine, West Virginia University, 64 Medical Center Dr., Morgantown, WV 26506, United States.; Department of Ophthalmology and Visual Sciences, One Stadium Dr, West Virginia University, Morgantown, WV 26506, United States., Guan T; Department of Biochemistry and Molecular Medicine, School of Medicine, West Virginia University, 64 Medical Center Dr., Morgantown, WV 26506, United States.; Department of Ophthalmology and Visual Sciences, One Stadium Dr, West Virginia University, Morgantown, WV 26506, United States., Rhodes S; Department of Biochemistry and Molecular Medicine, School of Medicine, West Virginia University, 64 Medical Center Dr., Morgantown, WV 26506, United States.; Department of Ophthalmology and Visual Sciences, One Stadium Dr, West Virginia University, Morgantown, WV 26506, United States., Robichaux MA; Department of Biochemistry and Molecular Medicine, School of Medicine, West Virginia University, 64 Medical Center Dr., Morgantown, WV 26506, United States.; Department of Ophthalmology and Visual Sciences, One Stadium Dr, West Virginia University, Morgantown, WV 26506, United States., Ramamurthy V; Department of Biochemistry and Molecular Medicine, School of Medicine, West Virginia University, 64 Medical Center Dr., Morgantown, WV 26506, United States.; Department of Ophthalmology and Visual Sciences, One Stadium Dr, West Virginia University, Morgantown, WV 26506, United States.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2024 Apr 18; Vol. 33 (9), pp. 802-817.
Autor:
Verma DK; Department of Ophthalmology and Visual Sciences, SUNY Upstate Medical University, Syracuse, New York, USA., Malhotra H; Department of Ophthalmology and Visual Sciences, SUNY Upstate Medical University, Syracuse, New York, USA., Woellert T; Department of Ophthalmology and Visual Sciences, SUNY Upstate Medical University, Syracuse, New York, USA., Calvert PD; Department of Ophthalmology and Visual Sciences, SUNY Upstate Medical University, Syracuse, New York, USA. Electronic address: calvertp@upstate.edu.
Publikováno v:
The Journal of biological chemistry [J Biol Chem] 2023 Dec; Vol. 299 (12), pp. 105412. Date of Electronic Publication: 2023 Nov 02.
Autor:
Rao NT; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Sumaroka A; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Santos AJ; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Parchinski KM; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Weber ML; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Maguire AM; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Cideciyan AV; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Aleman TS; Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Oct; Vol. 45 (5), pp. 506-515. Date of Electronic Publication: 2024 Jul 02.
Autor:
Zhai Y; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Ballios BG; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.; Department of Ophthalmology, University Health Network, Toronto, Ontario, Canada.; Kensington Vision and Research Centre, Toronto, Ontario, Canada.; Krembil Research Institute, University Health Network, Toronto, Ontario, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63720. Date of Electronic Publication: 2024 May 23.
Autor:
Mesnard CS; Truhlsen Eye Institute and Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE, USA.; Pharmacology and Experimental Neuroscience, University of Nebraska Medical Center, Omaha, NE, USA., Hays CL; Truhlsen Eye Institute and Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE, USA.; Department of Medical Education, Creighton University, Omaha, NE, USA., Townsend LE; Truhlsen Eye Institute and Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE, USA.; Pharmacology and Experimental Neuroscience, University of Nebraska Medical Center, Omaha, NE, USA., Barta CL; Truhlsen Eye Institute and Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE, USA., Gurumurthy CB; Department of Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, NE, USA., Thoreson WB; Truhlsen Eye Institute and Department of Ophthalmology and Visual Sciences, University of Nebraska Medical Center, Omaha, NE, USA.; Pharmacology and Experimental Neuroscience, University of Nebraska Medical Center, Omaha, NE, USA.
Publikováno v:
Visual neuroscience [Vis Neurosci] 2024 Sep 18; Vol. 41, pp. E003. Date of Electronic Publication: 2024 Sep 18.
Autor:
Yang XR; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Kassam F; Calgary Retina Consultants, Calgary, Alberta, Canada., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2023 Jun; Vol. 193 (2), pp. 183-187. Date of Electronic Publication: 2023 May 22.
Autor:
Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Roman AJ; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Warner RL; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wu V; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Jiang YY; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Swider M; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Garafalo AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Viarbitskaya I; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Russell RC; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Kohl S; Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tübingen, D-72076 Tübingen, Germany., Wissinger B; Molecular Genetics Laboratory, Centre for Ophthalmology, University of Tübingen, D-72076 Tübingen, Germany., Ripamonti C; Cambridge Research Systems, Rochester ME2 4BH, UK., Barbur JL; Centre for Applied Vision Research, School of Health & Psychological Sciences, City St. George's, University of London, London EC1V 0HB, UK., Bach M; Eye Center, Medical Center-Faculty of Medicine, University of Freiburg, D-79106 Freiburg, Germany., Carroll J; Departments of Ophthalmology & Visual Science, Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA., Morgan JIW; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Aleman TS; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Oct 02; Vol. 25 (19). Date of Electronic Publication: 2024 Oct 02.
Autor:
Liu T; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Zhang W; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Zeng W; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Wang Y; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Luo H; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Dong X; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Feng J; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Zhang Y; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Jin S; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China., Lu H; Department of Dermatology, Affiliated Hospital of Guizhou Medical University, Guiyang, China. Electronic address: luhongguang@gmc.edu.cn.
Publikováno v:
The Journal of investigative dermatology [J Invest Dermatol] 2024 Oct; Vol. 144 (10), pp. 2305-2308.e6. Date of Electronic Publication: 2024 Mar 26.