Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Meghan M. DeBenedictis"'
Publikováno v:
Ophthalmic genetics.
Knobloch syndrome results from recessive mutations in COL18A1 and is characterized by retinopathy and occipital scalp, brain and skull defects.We report three siblings, born to consanguineous parents, two of whom with genetically confirmed Knobloch s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dda0bbd741701625046d01d1cb9d500a
https://pubmed.ncbi.nlm.nih.gov/35387550
https://pubmed.ncbi.nlm.nih.gov/35387550
Autor:
Shao YF; Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., DeBenedictis M; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Yeaney G; Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Singh AD; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Publikováno v:
Ocular oncology and pathology [Ocul Oncol Pathol] 2021 Oct; Vol. 7 (5), pp. 340-345. Date of Electronic Publication: 2021 Jun 30.
Autor:
Raval V; Department of Ocular Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., DeBenedictis M; Department of Genetics, Cleveland Clinic, Cleveland, Ohio, USA., Bowen R; Department of Ocular Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Soto H; Department of Ocular Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Davanzo J; Department of Ocular Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., Singh A; Department of Ocular Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Publikováno v:
Indian journal of ophthalmology [Indian J Ophthalmol] 2021 May; Vol. 69 (5), pp. 1230-1233.
Autor:
Strait S; Genetic Counseling, Augustana University , Sioux Falls, South Dakota, USA., Loman R; Genetic Counseling, Augustana University , Sioux Falls, South Dakota, USA., Erickson L; Department of Statistics, Augustana University , Sioux Falls, South Dakota, USA., DeBenedictis M; Cleveland Clinic Foundation, Cole Eye Institute , Cleveland, Ohio, USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2020 Dec; Vol. 41 (6), pp. 533-538. Date of Electronic Publication: 2020 Aug 18.
Autor:
Sakaie KE; Department of Diagnostic Radiology, Imaging Institute, The Cleveland Clinic, United States of America. Electronic address: sakaiek@ccf.org., Kuban B; Department of Biomedical Engineering, Lerner Research Institute, The Cleveland Clinic, United States of America. Electronic address: kubanb@ccf.org., Fleischman A; Department of Biomedical Engineering, Lerner Research Institute, The Cleveland Clinic, United States of America. Electronic address: fleisca@ccf.org., DeBenedictis M; Department of Ophthalmology, Cole Eye Institute, The Cleveland Clinic, United States of America. Electronic address: marinom2@ccf.org., Rachitskaya A; Department of Ophthalmology, Cole Eye Institute, The Cleveland Clinic, United States of America. Electronic address: rachita@ccf.org., Yuan A; Department of Ophthalmology, Cole Eye Institute, The Cleveland Clinic, United States of America. Electronic address: yuana@ccf.org., Roy A; Second Sight Medical Products, Inc., United States of America., Lowe MJ; Department of Diagnostic Radiology, Imaging Institute, The Cleveland Clinic, United States of America. Electronic address: lowem1@ccf.org.
Publikováno v:
Magnetic resonance imaging [Magn Reson Imaging] 2020 Oct; Vol. 72, pp. 14-18. Date of Electronic Publication: 2020 Jun 25.
Autor:
Rachitskaya A; Cole Eye Institute, Department of Ophthalmology, Cleveland Clinic Foundation, Cleveland, Ohio. Electronic address: rachita@ccf.org., Yuan A; Cole Eye Institute, Department of Ophthalmology, Cleveland Clinic Foundation, Cleveland, Ohio., Davidson S; Neurological Institute, Center for Neurological Restoration, Cleveland Clinic Foundation, Cleveland, Ohio., Streicher M; Neurological Institute, Center for Neurological Restoration, Cleveland Clinic Foundation, Cleveland, Ohio., DeBenedictis M; Cole Eye Institute, Department of Ophthalmology, Cleveland Clinic Foundation, Cleveland, Ohio., Rosenfeldt AB; Lerner Research Institute, Department of Biomedical Engineering, Cleveland Clinic Foundation, Cleveland, Ohio., Alberts J; Neurological Institute, Center for Neurological Restoration, Cleveland Clinic Foundation, Cleveland, Ohio; Lerner Research Institute, Department of Biomedical Engineering, Cleveland Clinic Foundation, Cleveland, Ohio; Office of Clinical Transformation, Cleveland Clinic Foundation, Cleveland, Ohio.
Publikováno v:
Ophthalmology. Retina [Ophthalmol Retina] 2020 Jun; Vol. 4 (6), pp. 613-619. Date of Electronic Publication: 2019 Nov 15.
Autor:
Rachitskaya AV; Vitreoretinal Service, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio., DeBenedictis M, Yuan A
Publikováno v:
Retina (Philadelphia, Pa.) [Retina] 2020 May; Vol. 40 (5), pp. 803-804.
Autor:
Williamson M; Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA., Traboulsi E; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA., DeBenedictis M; Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2020 Apr; Vol. 41 (2), pp. 171-174. Date of Electronic Publication: 2020 Mar 24.
Autor:
Coussa RG; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH., Basali D; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH., Maeda A; Department of Ophthalmology & Visual Sciences, Case Western Reserve University School of Medicine, Cleveland, OH., DeBenedictis M; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH., Traboulsi EI; Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, OH.
Publikováno v:
Molecular vision [Mol Vis] 2019 Dec 30; Vol. 25, pp. 869-889. Date of Electronic Publication: 2019 Dec 30 (Print Publication: 2019).
Autor:
Rachitskaya A; Vitreoretinal Service, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio., Lane L, Ehlers J, DeBenedictis M, Yuan A
Publikováno v:
Retina (Philadelphia, Pa.) [Retina] 2019 Oct; Vol. 39 Suppl 1, pp. S199-S200.