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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
Garnai, Sarah J; Brinkmeier, Michelle L; Emery, Ben; Aleman, Tomas S; Pyle, Louise C; Veleva-Rotse, Biliana; Sisk, Robert A; Rozsa, Frank W; Ozel, Ayse Bilge; Li, Jun Z; Moroi, Sayoko E; Archer, Steven M; Lin, Cheng-Mao; Sheskey, Sarah; Wiinikka-Buesser, Laurel; Eadie, James; Urquhart, Jill E; Black, Graeme C M; Othman, Mohammad I; Boehnke, Michael; Sullivan, Scot A; Skuta, Gregory L; Pawar, Hemant S; Katz, Alexander E; Huryn, Laryssa A; Hufnagel, Robert B; Camper, Sally A; Richards, Julia E; Prasov, Lev.
Affiliation
  • Garnai SJ; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Brinkmeier ML; Harvard Medical School, Boston, MA, United States of America.
  • Emery B; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Aleman TS; Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America.
  • Pyle LC; Jungers Center for Neurosciences Research, Department of Neurology, Oregon Health & Science University, Portland, OR, United States of America.
  • Veleva-Rotse B; The Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
  • Sisk RA; Scheie Eye Institute, Department of Ophthalmology, Philadelphia, PA, United States of America.
  • Rozsa FW; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.
  • Ozel AB; Jungers Center for Neurosciences Research, Department of Neurology, Oregon Health & Science University, Portland, OR, United States of America.
  • Li JZ; Cincinnati Eye Institute, Cincinnati, Ohio, United States of America.
  • Moroi SE; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Archer SM; Molecular and Behavior Neuroscience Institute, University of Michigan, Ann Arbor, MI, United States of America.
  • Lin CM; Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America.
  • Sheskey S; Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States of America.
  • Wiinikka-Buesser L; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Eadie J; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Urquhart JE; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Black GCM; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Othman MI; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Boehnke M; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Sullivan SA; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, United Kingdom.
  • Skuta GL; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
  • Pawar HS; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester, United Kingdom.
  • Katz AE; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
  • Huryn LA; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Hufnagel RB; Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, United States of America.
  • Camper SA; Dean McGee Eye Institute, Department of Ophthalmology, University of Oklahoma, Oklahoma City, OK.
  • Richards JE; Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, United States of America.
  • Prasov L; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America.
PLoS Genet ; 15(5): e1008130, 2019 05.
Article in En | MEDLINE | ID: mdl-31048900
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Degeneration / Transcription Factors / Glaucoma, Angle-Closure / Microphthalmos / Hyperopia / Membrane Proteins Type of study: Prognostic_studies Limits: Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2019 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Retinal Degeneration / Transcription Factors / Glaucoma, Angle-Closure / Microphthalmos / Hyperopia / Membrane Proteins Type of study: Prognostic_studies Limits: Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2019 Document type: Article Affiliation country: