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Wyświetlanie 1-8 z 8
Tytuł :
Clinical phenocopies of albinism.
Autorzy :
Dumitrescu AV; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City. Electronic address: .
Pfeifer WL; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.
Drack AV; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.
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Źródło :
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2021 Aug; Vol. 25 (4), pp. 220.e1-220.e8. Date of Electronic Publication: 2021 Jul 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Autorzy :
Stiff HA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Sloan-Heggen CM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA.
Ko A; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
Pfeifer WL; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Kolbe DL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Nishimura CJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Frees KL; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Wang D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Weaver AE; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.
Kamholz J; Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Department of Molecular Physiology & Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, USA.
Drack AV; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.; The University of Iowa Institute for Vision Research, Iowa City, Iowa, USA.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2020 Apr; Vol. 41 (2), pp. 151-158. Date of Electronic Publication: 2020 Apr 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Markers*
Mutation*
Blindness/*diagnosis
Deafness/*diagnosis
Usher Syndromes/*diagnosis
Adolescent ; Adult ; Blindness/genetics ; Child ; Child, Preschool ; Deafness/genetics ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Usher Syndromes/genetics
Czasopismo naukowe
Tytuł :
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
Autorzy :
Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. .
Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. .
Drack AV; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Ho AC; Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.
Charng J; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Garafalo AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Roman AJ; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sumaroka A; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Han IC; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Hochstedler MD; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Pfeifer WL; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Sohn EH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
Taiel M; ProQR Therapeutics, Leiden, the Netherlands.
Schwartz MR; ProQR Therapeutics, Leiden, the Netherlands.
Biasutto P; ProQR Therapeutics, Leiden, the Netherlands.
Wit W; ProQR Therapeutics, Leiden, the Netherlands.
Cheetham ME; UCL Institute of Ophthalmology, London, UK.
Adamson P; ProQR Therapeutics, Leiden, the Netherlands.; UCL Institute of Ophthalmology, London, UK.
Rodman DM; ProQR Therapeutics, Leiden, the Netherlands.
Platenburg G; ProQR Therapeutics, Leiden, the Netherlands.
Tome MD; ProQR Therapeutics, Leiden, the Netherlands.
Balikova I; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Nerinckx F; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Zaeytijd J; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Van Cauwenbergh C; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Leroy BP; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
Russell SR; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
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Źródło :
Nature medicine [Nat Med] 2019 Feb; Vol. 25 (2), pp. 225-228. Date of Electronic Publication: 2018 Dec 17.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Vision, Ocular*
Cilia/*pathology
Leber Congenital Amaurosis/*drug therapy
Leber Congenital Amaurosis/*physiopathology
Oligonucleotides, Antisense/*administration & dosage
Oligonucleotides, Antisense/*therapeutic use
Photoreceptor Cells, Vertebrate/*pathology
Adult ; Alleles ; Antigens, Neoplasm/genetics ; Cell Cycle Proteins ; Cilia/drug effects ; Cytoskeletal Proteins ; Female ; Humans ; Intravitreal Injections ; Male ; Neoplasm Proteins/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Autorzy :
Stunkel ML; Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Brodie SE; Department of Ophthalmology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Cideciyan AV; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Pfeifer WL; Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Kennedy EL; Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Stone EM; Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA.
Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Drack AV; Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA. Electronic address: .
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Źródło :
American journal of ophthalmology [Am J Ophthalmol] 2018 Jun; Vol. 190, pp. 58-68. Date of Electronic Publication: 2018 Mar 17.
Typ publikacji :
Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Eye Diseases, Hereditary/*genetics
Genetic Diseases, X-Linked/*genetics
Guanylate Cyclase/*genetics
Myopia/*genetics
Night Blindness/*genetics
Receptors, Cell Surface/*genetics
Retinitis Pigmentosa/*genetics
Adolescent ; Child ; Cone-Rod Dystrophies/genetics ; Dark Adaptation ; Electroretinography ; Female ; Genes, Recessive ; Humans ; Leber Congenital Amaurosis/genetics ; Male ; Middle Aged ; Photic Stimulation ; Refraction, Ocular/physiology ; Retrospective Studies ; Visual Acuity/physiology ; Visual Field Tests ; Visual Fields/physiology
SCR Disease Name :
Night blindness, congenital stationary
Czasopismo naukowe
Tytuł :
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).
Autorzy :
Drack AV; a Department of Ophthalmology .; b Department of Pediatrics , University of Iowa , Iowa City , IA , USA .
Mullins RF; a Department of Ophthalmology .
Pfeifer WL; a Department of Ophthalmology .
Augustine EF; c Department of Neurology , University of Rochester , Rochester , NY , USA .
Stasheff SF; a Department of Ophthalmology .; b Department of Pediatrics , University of Iowa , Iowa City , IA , USA .; d Division of Neurology .
Hong SD; b Department of Pediatrics , University of Iowa , Iowa City , IA , USA .; e Division of Rheumatology , University of Iowa , Iowa City , IA , USA.
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Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2015; Vol. 36 (4), pp. 359-64. Date of Electronic Publication: 2014 Feb 19.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Immunosuppressive Agents/*therapeutic use
Mycophenolic Acid/*analogs & derivatives
Neuronal Ceroid-Lipofuscinoses/*drug therapy
Retinal Degeneration/*drug therapy
Child ; DNA Mutational Analysis ; Dark Adaptation ; Electroretinography ; Female ; Humans ; Membrane Glycoproteins/genetics ; Molecular Chaperones/genetics ; Mycophenolic Acid/therapeutic use ; Neuronal Ceroid-Lipofuscinoses/diagnosis ; Neuronal Ceroid-Lipofuscinoses/genetics ; Photic Stimulation ; Retinal Degeneration/diagnosis ; Retinal Degeneration/genetics ; Retrospective Studies ; Tomography, Optical Coherence ; Visual Acuity/drug effects
Czasopismo naukowe
Tytuł :
Visual assessment of the pediatric patient.
Autorzy :
Pfeifer WL; University of Iowa Hospitals and Clinics, Department of Ophthalmology, 200 Hawkins Drive, Iowa City, IA 52242, USA.
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Źródło :
Insight (American Society of Ophthalmic Registered Nurses) [Insight] 2003 Jul-Sep; Vol. 28 (3), pp. 76-9; quiz 80-1.
Typ publikacji :
Journal Article
MeSH Terms :
Nurse-Patient Relations*
Nursing Assessment/*methods
Pediatric Nursing/*methods
Vision Disorders/*diagnosis
Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; Vision Disorders/therapy ; Vision Screening/methods
Czasopismo naukowe
Tytuł :
Strabismus surgery.
Autorzy :
Pfeifer WL; University of Iowa Hospitals and Clinics, Department of Ophthalmology, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Scott WE
Pokaż więcej
Źródło :
Insight (American Society of Ophthalmic Registered Nurses) [Insight] 2002 Jul-Sep; Vol. 27 (3), pp. 73-7; quiz 78-9.
Typ publikacji :
Journal Article
MeSH Terms :
Strabismus/*surgery
Humans ; Patient Selection ; Perioperative Care/methods ; Perioperative Care/nursing ; Postoperative Complications/etiology ; Postoperative Complications/prevention & control ; Strabismus/nursing ; Time Factors
Czasopismo naukowe
    Wyświetlanie 1-8 z 8

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