المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Burnight ER; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Fenner BJ; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Han IC; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., DeLuca AP; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Whitmore SS; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Bohrer LR; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Andorf JL; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Sohn EH; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Mullins RF; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Tucker BA; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States., Stone EM; Institute for Vision Research, Carver College of Medicine, University of Iowa, 375 Newton Road, Iowa City, IA 52242, United States.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, United States.

المصدر: Human molecular genetics [Hum Mol Genet] 2024 Aug 06; Vol. 33 (16), pp. 1379-1390.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Organoids*/metabolism , Organoids*/pathology , ATP-Binding Cassette Transporters*/genetics , Mutation* , Induced Pluripotent Stem Cells*/metabolism , Retina*/metabolism , Retina*/pathology, Humans ; Male ; Female ; Adult ; Retrospective Studies ; Retinal Diseases/genetics ; Retinal Diseases/pathology ; Alleles ; Middle Aged ; Genotype ; Phenotype ; Heterozygote

المؤلفون: Fenner BJ; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa; Singapore National Eye Centre; Singapore Eye Research Institute; and Ophthalmology and Visual Sciences Academic Clinical Programme, SingHealth Duke-NUS Academic Medical Centre, Duke-NUS Graduate Medical School, Singapore, Republic of Singapore., Whitmore SS; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., DeLuca AP; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Andorf JL; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Daggett HT; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Luse MA; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Haefeli LM; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Riley JB; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Critser DB; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Wilkinson ME; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Dumitrescu AV; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Drack AV; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Boyce TM; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Russell JF; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Binkley EM; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Sohn EH; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Russell SR; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Boldt HC; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Mullins RF; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Tucker BA; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Scheetz TE; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Han IC; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Stone EM; The University of Iowa Institute for Vision Research and the Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa. Electronic address: edwin-stone@uiowa.edu.

المصدر: Ophthalmology [Ophthalmology] 2024 Aug; Vol. 131 (8), pp. 985-997. Date of Electronic Publication: 2024 Feb 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters*/genetics , Visual Acuity*/physiology , Genotype* , Retinal Diseases*/genetics , Retinal Diseases*/diagnosis, Humans ; Retrospective Studies ; Middle Aged ; Male ; Female ; Aged ; Adult ; Adolescent ; Child ; Young Adult ; Child, Preschool ; Visual Fields/physiology ; Longitudinal Studies ; Mutation ; Alleles ; Tomography, Optical Coherence

المؤلفون: DeLuca AP; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Whitmore SS; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Tatro NJ; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Andorf JL; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Faga BP; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Faga LA; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Colins MM; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Luse MA; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Fenner BJ; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa.; Department of Medical Retina, Singapore National Eye Centre, Singapore.; Singapore Eye Research Institute, Singapore.; Ophthalmology and Visual Sciences Academic Clinical Programme, SingHealth Duke-NUS Academic Medical Centre, Duke-NUS Graduate Medical School, Singapore., Stone EM; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa., Scheetz TE; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, Iowa.

المصدر: Ophthalmology science [Ophthalmol Sci] 2023 Sep 14; Vol. 3 (4), pp. 100397. Date of Electronic Publication: 2023 Sep 14 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 9918230896206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-9145 (Electronic) Linking ISSN: 26669145 NLM ISO Abbreviation: Ophthalmol Sci Subsets: PubMed not MEDLINE

المؤلفون: Cooke JA; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Voigt AP; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Collingwood MA; Integrated DNA Technologies, Coralville, IA, USA., Stone NE; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Whitmore SS; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., DeLuca AP; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Burnight ER; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Anfinson KR; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Vakulskas CA; Integrated DNA Technologies, Coralville, IA, USA., Reutzel AJ; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Daggett HT; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Andorf JL; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Stone EM; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Mullins RF; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Tucker BA; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

المصدر: Stem cells translational medicine [Stem Cells Transl Med] 2023 Jun 15; Vol. 12 (6), pp. 365-378.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101578022 Publication Model: Print Cited Medium: Internet ISSN: 2157-6580 (Electronic) Linking ISSN: 21576564 NLM ISO Abbreviation: Stem Cells Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*, Humans ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Cell Differentiation ; Retina ; Organoids

المؤلفون: Whitmore SS; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA. steven-whitmore@uiowa.edu., DeLuca AP; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA., Andorf JL; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA., Cheng JL; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.; Casey Eye Institute, Oregon Health and Science University, Portland, OR, USA., Mansoor M; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA., Fortenbach CR; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA., Critser DB; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA., Russell JF; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA., Stone EM; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA., Han IC; The University of Iowa Institute for Vision Research & Department of Ophthalmology and Visual Sciences, Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.

المصدر: Scientific reports [Sci Rep] 2023 Apr 27; Vol. 13 (1), pp. 6896. Date of Electronic Publication: 2023 Apr 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Cone Photoreceptor Cells*/pathology , Retinal Diseases*/pathology, Humans ; Tomography, Optical Coherence ; Retina ; Stargardt Disease/pathology

المؤلفون: Wiley LA; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Binkley EM; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., DeLuca AP; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Workalemahu G; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Tatro NJ; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Luse MA; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Kennedy EL; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Folk JC; Departments of Ophthalmology and Visual Sciences; and., Scheetz TE; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Ballas ZK; Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa., Tucker BA; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Mullins RF; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Han IC; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and., Stone EM; Institute for Vision Research, Iowa City, Iowa.; Departments of Ophthalmology and Visual Sciences; and.

المصدر: Retinal cases & brief reports [Retin Cases Brief Rep] 2022 Jan 01; Vol. 16 (1), pp. 111-117.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101298744 Publication Model: Print Cited Medium: Internet ISSN: 1937-1578 (Electronic) Linking ISSN: 19351089 NLM ISO Abbreviation: Retin Cases Brief Rep Subsets: MEDLINE

مواضيع طبية MeSH: Autoimmune Diseases*/diagnosis , Common Variable Immunodeficiency*/complications , Retinal Degeneration*/diagnosis, Adult ; Diagnosis, Differential ; Female ; Humans ; Retrospective Studies

المؤلفون: Stone NE; The George W. Woodruff School of Mechanical Engineering, Georgia Institute of Technology, Atlanta, GA, 30332, USA., Raj A; Department of Mechanical Engineering, Indian Institute of Technology Patna, Bihar, 801103, India., Young KM; Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology, 313 Ferst Drive, Atlanta, GA, 30332-0535, USA., DeLuca AP; Department of Ophthalmology and Visual Science, Carver College of Medicine, Institute for Vision Research, University of Iowa, Iowa City, IA, 52242, USA., Chrit FE; The George W. Woodruff School of Mechanical Engineering, Georgia Institute of Technology, Atlanta, GA, 30332, USA., Tucker BA; Department of Ophthalmology and Visual Science, Carver College of Medicine, Institute for Vision Research, University of Iowa, Iowa City, IA, 52242, USA., Alexeev A; The George W. Woodruff School of Mechanical Engineering, Georgia Institute of Technology, Atlanta, GA, 30332, USA., McDonald J; School of Biology, Georgia Institute of Technology, 313 Ferst Drive, Atlanta, GA, 30332-0405, USA., Benigno BB; Ovarian Cancer Institute, Atlanta, GA, USA., Sulchek T; The George W. Woodruff School of Mechanical Engineering, Georgia Institute of Technology, Atlanta, GA, 30332, USA. todd.sulchek@me.gatech.edu.

المصدر: Scientific reports [Sci Rep] 2021 Sep 09; Vol. 11 (1), pp. 18032. Date of Electronic Publication: 2021 Sep 09.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

مواضيع طبية MeSH: Ascites/*diagnosis , Cell Separation/*methods , Microfluidic Analytical Techniques/*instrumentation , Neoplastic Cells, Circulating/*metabolism , Ovarian Neoplasms/*diagnosis , Tumor Suppressor Protein p53/*genetics, Ascites/genetics ; Ascites/metabolism ; Ascites/pathology ; Ascitic Fluid/metabolism ; Ascitic Fluid/pathology ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Biomechanical Phenomena ; Cell Separation/instrumentation ; Female ; Gene Expression ; High-Throughput Nucleotide Sequencing ; Humans ; Liquid Biopsy/methods ; Models, Biological ; Multiplex Polymerase Chain Reaction ; Mutation ; Neoplasm Invasiveness ; Neoplastic Cells, Circulating/pathology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/metabolism ; Ovarian Neoplasms/pathology ; Precision Medicine ; Tumor Suppressor Protein p53/metabolism

المؤلفون: Voigt AP; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Mullin NK; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Whitmore SS; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., DeLuca AP; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Burnight ER; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Liu X; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Tucker BA; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Scheetz TE; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Stone EM; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA., Mullins RF; Department of Ophthalmology and Visual Sciences, the University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Institute for Vision Research, the University of Iowa, Iowa City, IA 52242, USA.

المصدر: Human molecular genetics [Hum Mol Genet] 2021 Jul 28; Vol. 30 (16), pp. 1543-1558.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Retinal Cone Photoreceptor Cells*/metabolism , Retinal Diseases*/genetics, Fovea Centralis ; Humans ; Retina/metabolism ; Transcriptome/genetics

المؤلفون: van der Heide C; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA.; Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Goar W; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Meyer KJ; Institute for Vision Research, University of Iowa, Iowa City, IA, USA.; Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Alward WLM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Boese EA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Sears NC; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Roos BR; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Kwon YH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., DeLuca AP; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Siggs OM; Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia.; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA., Sheffield VC; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA.; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA., Wang K; Institute for Vision Research, University of Iowa, Iowa City, IA, USA.; Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA., Stone EM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Mullins RF; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Anderson MG; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA.; Department of Molecular Physiology and Biophysics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.; VA Center for the Prevention and Treatment of Visual Loss, Iowa City VA Healthcare System, Iowa City, IA, USA., Fan BJ; Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Boston, Boston, MA, USA., Ritch R; Einhorn Research Center, New York Eye and Ear Infirmary of Mount Sinai, New York, NY, USA., Craig JE; Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia, Australia., Wiggs JL; Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Boston, Boston, MA, USA., Scheetz TE; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA., Fingert JH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, 3111B Medical Education and Research Facility, University of Iowa, 375 Newton Road, Iowa City, IA52245, USA. john-fingert@uiowa.edu.; Institute for Vision Research, University of Iowa, Iowa City, IA, USA. john-fingert@uiowa.edu.

المصدر: BMC genomics [BMC Genomics] 2021 Jun 26; Vol. 22 (1), pp. 477. Date of Electronic Publication: 2021 Jun 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Exome* , Glaucoma, Open-Angle*/genetics, Animals ; Humans ; Iris ; Membrane Glycoproteins ; Mice ; Pigmentation ; Exome Sequencing