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Wyszukujesz frazę ""Robson, Anthony G."" wg kryterium: Autor

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    Wyświetlanie 1-16 z 16
    Tytuł:
    Extensive myelinated retinal nerve fibres and bilateral foveal hypoplasia: A specific clinical entity.
    Autorzy:
    Hallali G; CHNO des Quinze-Vingts, Ophthalmic pediatric unit, Paris, France.; Department of Ophthalmology, Hospital Fondation Adolphe de Rothschild, Paris, France.
    Loudon SE; Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands.
    Robson AG; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
    Mohand-Saïd S; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and DHU Sight Restore, Paris, France.
    Zanlonghi X; Laboratoire d'explorations fonctionnelles de la vision, Nantes, France.
    Sahel JA; Department of Ophthalmology, Hospital Fondation Adolphe de Rothschild, Paris, France.; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and DHU Sight Restore, Paris, France.; CHNO des Quinze-Vingts, Ophthalmic pediatric unit, Paris, France.; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Department of Ophthalmology, University of Pittsburgh Medical School, Pittsburgh, Pennsylvania, USA.
    Moore AT; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Department of Ophthalmology, UCSF School of Medicine, San Francisco, California, USA.
    Audo I; CHNO des Quinze-Vingts, Ophthalmic pediatric unit, Paris, France.; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and DHU Sight Restore, Paris, France.; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
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    Źródło:
    Acta ophthalmologica [Acta Ophthalmol] 2023 Mar; Vol. 101 (2), pp. e261-e263. Date of Electronic Publication: 2022 Aug 05.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Retina*
    Amblyopia*
    Humans ; Vision Disorders ; Nerve Fibers
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.
    Autorzy:
    Neveu MM; Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London, UK.
    Padhy SK; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Bhubaneswar, India.
    Ramamurthy S; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India.
    Takkar B; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India.
    Jalali S; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India.
    Cp D; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Hyderabad, India.
    Padhi TR; Anant Bajaj Retina Institute, LV Prasad Eye Institute, Bhubaneswar, India.
    Robson AG; Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London, UK.
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    Źródło:
    Clinical ophthalmology (Auckland, N.Z.) [Clin Ophthalmol] 2022 May 24; Vol. 16, pp. 1569-1587. Date of Electronic Publication: 2022 May 24 (Print Publication: 2022).
    Typ publikacji:
    Journal Article; Review
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
    Autorzy:
    Georgiou M; UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.; Moorfields Eye Hospital, London, UK.
    Ali N; Moorfields Eye Hospital, London, UK.
    Yang E; Moorfields Eye Hospital, London, UK.
    Grewal PS; Moorfields Eye Hospital, London, UK.
    Rotsos T; First Division of Ophthalmology, General Hospital of Athens, National and Kapodistrian University of Athens, Athens, Greece.
    Pontikos N; UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.; Moorfields Eye Hospital, London, UK.
    Robson AG; UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.; Moorfields Eye Hospital, London, UK.
    Michaelides M; UCL Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK. .; Moorfields Eye Hospital, London, UK. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Mar 12; Vol. 16 (1), pp. 128. Date of Electronic Publication: 2021 Mar 12.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Eye Proteins*/genetics
    Retinal Dystrophies*/genetics
    Humans ; Infant ; Microtubule-Associated Proteins ; Mutation/genetics ; Pedigree ; Phenotype ; RNA-Binding Proteins ; Retrospective Studies
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Macula-predominant retinopathy associated with biallelic variants in RDH12 .
    Autorzy:
    Ba-Abbad R; UCL Institute of Ophthalmology, University College London , London, UK.; Genetics Department, Moorfields Eye Hospital , London, UK.; Vitreoretinal Division, King Khaled Eye Specialist Hospital , Riyadh, Saudi Arabia.
    Arno G; UCL Institute of Ophthalmology, University College London , London, UK.; Genetics Department, Moorfields Eye Hospital , London, UK.
    Robson AG; UCL Institute of Ophthalmology, University College London , London, UK.; Genetics Department, Moorfields Eye Hospital , London, UK.
    Bouras K; UCL Institute of Ophthalmology, University College London , London, UK.
    Georgiou M; UCL Institute of Ophthalmology, University College London , London, UK.; Genetics Department, Moorfields Eye Hospital , London, UK.
    Wright G; UCL Institute of Ophthalmology, University College London , London, UK.
    Webster AR; UCL Institute of Ophthalmology, University College London , London, UK.; Genetics Department, Moorfields Eye Hospital , London, UK.
    Michaelides M; UCL Institute of Ophthalmology, University College London , London, UK.; Genetics Department, Moorfields Eye Hospital , London, UK.
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    Źródło:
    Ophthalmic genetics [Ophthalmic Genet] 2020 Dec; Vol. 41 (6), pp. 612-615. Date of Electronic Publication: 2020 Aug 13.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Phenotype*
    Alcohol Oxidoreductases/*genetics
    Macula Lutea/*pathology
    Retinal Dystrophies/*pathology
    Adult ; Alleles ; Child ; Female ; Humans ; Macula Lutea/metabolism ; Male ; Retinal Dystrophies/genetics ; Retrospective Studies
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.
    Autorzy:
    Guimaraes TAC; UCL Institute of Ophthalmology, University College London , London, UK.; Moorfields Eye Hospital , London, UK.
    Georgiou M; UCL Institute of Ophthalmology, University College London , London, UK.; Moorfields Eye Hospital , London, UK.
    Robson AG; UCL Institute of Ophthalmology, University College London , London, UK.; Moorfields Eye Hospital , London, UK.
    Michaelides M; UCL Institute of Ophthalmology, University College London , London, UK.; Moorfields Eye Hospital , London, UK.
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    Źródło:
    Ophthalmic genetics [Ophthalmic Genet] 2020 Jun; Vol. 41 (3), pp. 208-215. Date of Electronic Publication: 2020 May 22.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't; Review
    MeSH Terms:
    Mutation*
    Genetic Therapy/*methods
    Potassium Channels, Voltage-Gated/*genetics
    Retinal Diseases/*diagnosis
    Retinal Diseases/*therapy
    Humans ; Retinal Diseases/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Electrophysiological and Structural Changes in Chinese Patients with LHON.
    Autorzy:
    Wang M; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Guo H; Department of Medical Genetics, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Li S; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Wang G; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Long Y; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Meng X; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Liu B; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Liu Y; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
    Robson AG; Department of Electrophysiology, Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College London, London, UK.
    Yin ZQ; Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Military Medical University), Chongqing, China.
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    Źródło:
    Journal of ophthalmology [J Ophthalmol] 2020 Mar 30; Vol. 2020, pp. 4734276. Date of Electronic Publication: 2020 Mar 30 (Print Publication: 2020).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Unilateral pigmentary retinopathy: a retrospective case series.
    Autorzy:
    Errera MH; Moorfields Eye Hospital, London, UK.; Quinze-Vingts National Ophthalmology Hospital, DHU Sight Restore., CIC 1423, Sorbonne-Universités, UPMC Université, Paris, France.
    Robson AG; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
    Wong T; Moorfields Eye Hospital, London, UK.
    Hykin PG; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
    Pal B; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
    Sagoo MS; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
    Pavesio CE; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
    Moore AT; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
    Webster AR; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
    MacLaren RE; Oxford University Hospitals NHS Foundation Trust, UK. Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
    Holder GE; Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College, London, UK.
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    Źródło:
    Acta ophthalmologica [Acta Ophthalmol] 2019 Jun; Vol. 97 (4), pp. e601-e617. Date of Electronic Publication: 2018 Dec 31.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Visual Acuity*
    Electroretinography/*methods
    Retinal Cone Photoreceptor Cells/*pathology
    Retinitis Pigmentosa/*diagnosis
    Tomography, Optical Coherence/*methods
    Adolescent ; Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Retinitis Pigmentosa/physiopathology ; Retrospective Studies ; Visual Fields/physiology ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Investigating the potential of Zernike polynomials to characterise spatial distribution of macular pigment.
    Autorzy:
    Allen P; School of Computer Science, University of Birmingham, Birmingham, United Kingdom.
    Calcagni A; School of Computer Science, University of Birmingham, Birmingham, United Kingdom.; Aston University, Ophthalmic Research Group, School of Life and Health Sciences, Aston Triangle, Birmingham, United Kingdom.; Moorfields Eye Hospital NHS Foundation Trust, Department of Electrophysiology, London, United Kingdom.
    Robson AG; Moorfields Eye Hospital NHS Foundation Trust, Department of Electrophysiology, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom.
    Claridge E; School of Computer Science, University of Birmingham, Birmingham, United Kingdom.
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    Źródło:
    PloS one [PLoS One] 2019 May 24; Vol. 14 (5), pp. e0217265. Date of Electronic Publication: 2019 May 24 (Print Publication: 2019).
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Macula Lutea/*metabolism
    Macular Degeneration/*metabolism
    Macular Pigment/*metabolism
    Adolescent ; Adult ; Aged ; Aged, 80 and over ; Algorithms ; Case-Control Studies ; Child ; Female ; Fovea Centralis/metabolism ; Humans ; Imaging, Three-Dimensional ; Macula Lutea/diagnostic imaging ; Macular Degeneration/diagnostic imaging ; Macular Degeneration/etiology ; Male ; Middle Aged ; Models, Biological ; Pattern Recognition, Automated ; Retinoscopy ; Slit Lamp Microscopy ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2.
    Autorzy:
    Ba-Abbad R; a UCL Institute of Ophthalmology , University College London , London , UK‎.; b Genetics Department , Moorfields Eye Hospital , London , UK.
    Robson AG; a UCL Institute of Ophthalmology , University College London , London , UK‎.; c Electrophysiology , Moorfields Eye Hospital , London , UK.
    MacPhee B; d Medical Imaging , Moorfields Eye Hospital , London , UK.
    Webster AR; a UCL Institute of Ophthalmology , University College London , London , UK‎.; b Genetics Department , Moorfields Eye Hospital , London , UK.
    Michaelides M; a UCL Institute of Ophthalmology , University College London , London , UK‎.; b Genetics Department , Moorfields Eye Hospital , London , UK.
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    Źródło:
    Ophthalmic genetics [Ophthalmic Genet] 2019 Apr; Vol. 40 (2), pp. 188-189.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Genetic Variation*
    Cone-Rod Dystrophies/*genetics
    Peripherins/*genetics
    Aged ; Cone-Rod Dystrophies/physiopathology ; Electroretinography ; Exons/genetics ; Female ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Retina/physiopathology ; Visual Acuity ; Visual Field Tests ; Visual Fields/physiology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures.
    Autorzy:
    Khan NW; Department of Ophthalmology & Visual Science, University of Michigan, Ann Arbor, MI 48105, USA.
    Falsini B; Department of Ophthalmology, Fondazione Policlinico Universitario A. Gemelli, Università Cattolica del S. Cuore, Rome, Italy.
    Kondo M; Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
    Robson AG; Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK.
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    Źródło:
    Journal of ophthalmology [J Ophthalmol] 2017; Vol. 2017, pp. 2109014. Date of Electronic Publication: 2017 Sep 25.
    Typ publikacji:
    Editorial
    Opinia redakcyjna
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
    Autorzy:
    Balikova I; Moorfields Eye Hospital, London, UK.; Free University of Brussels, Brussels, Belgium.
    Robson AG; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, London, UK.
    Holder GE; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, London, UK.
    Ostergaard P; Cardiovascular & Cell Sciences Research Institute, St George's University of London, London, UK.
    Mansour S; SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.
    Moore AT; Moorfields Eye Hospital, London, UK.; UCL Institute of Ophthalmology, London, UK.
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    Źródło:
    Acta ophthalmologica [Acta Ophthalmol] 2016 Feb; Vol. 94 (1), pp. 92-8. Date of Electronic Publication: 2015 May 21.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Kinesins/*genetics
    Lymphedema/*diagnosis
    Microcephaly/*diagnosis
    Retinal Diseases/*diagnosis
    Retinal Dysplasia/*diagnosis
    Child ; Child, Preschool ; Electroretinography ; Facies ; Female ; Humans ; Lymphedema/genetics ; Male ; Microcephaly/genetics ; Optical Imaging ; Phenotype ; Retinal Diseases/genetics ; Retinal Dysplasia/genetics ; Tomography, Optical Coherence ; Visual Acuity
    SCR Disease Name:
    Lymphedema, microcephaly and chorioretinopathy syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy.
    Autorzy:
    Hull S; Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.; Moor-fields Eye Hospital, London, UK.
    Arno G; Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.; Moor-fields Eye Hospital, London, UK.
    Plagnol V; University College London Genetics Institute, London, UK.
    Robson AG; Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.; Moor-fields Eye Hospital, London, UK.
    Webster AR; Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.; Moor-fields Eye Hospital, London, UK.
    Moore AT; Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.; Moor-fields Eye Hospital, London, UK.
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    Źródło:
    Acta ophthalmologica [Acta Ophthalmol] 2015 Aug; Vol. 93 (5), pp. e392-e393. Date of Electronic Publication: 2014 Dec 28.
    Typ publikacji:
    Case Reports; Letter; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    ADAM Proteins/*genetics
    Exome/*genetics
    Membrane Proteins/*genetics
    Retinitis Pigmentosa/*genetics
    Child, Preschool ; Consanguinity ; DNA Mutational Analysis ; Dark Adaptation ; Electroretinography ; Humans ; Male ; Pedigree ; Photic Stimulation ; Sequence Analysis, DNA ; Tomography, Optical Coherence
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
    Autorzy:
    Soumplis V; Moorfields Eye Hospital, London, UK.
    Sergouniotis PI
    Robson AG
    Michaelides M
    Moore AT
    Holder GE
    Webster AR
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    Źródło:
    Acta ophthalmologica [Acta Ophthalmol] 2013 May; Vol. 91 (3), pp. e191-5. Date of Electronic Publication: 2013 Jan 07.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Point Mutation*
    Collagen/*genetics
    Retinal Degeneration/*genetics
    Aged ; Ciliary Body/pathology ; DNA Mutational Analysis ; Electroretinography ; Fluorescein Angiography ; Humans ; Middle Aged ; Phenotype ; Photoreceptor Cells, Vertebrate/pathology ; Polymerase Chain Reaction ; Retinal Degeneration/diagnosis ; Retinal Degeneration/physiopathology ; Retinal Pigment Epithelium/pathology ; Tomography, Optical Coherence
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
    Autorzy:
    Sergouniotis PI; UCL Institute of Ophthalmology, London, UK.
    Robson AG
    Li Z
    Devery S
    Holder GE
    Moore AT
    Webster AR
    Pokaż więcej
    Źródło:
    Acta ophthalmologica [Acta Ophthalmol] 2012 May; Vol. 90 (3), pp. e192-7. Date of Electronic Publication: 2011 Oct 19.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mutation*
    Myopia/*genetics
    Night Blindness/*genetics
    Receptors, Metabotropic Glutamate/*genetics
    Adolescent ; Adult ; Aged ; Child ; Dark Adaptation ; Electroretinography ; Exons/genetics ; Eye Diseases, Hereditary ; Female ; Genetic Diseases, X-Linked ; Humans ; Introns/genetics ; Male ; Middle Aged ; Myopia/physiopathology ; Night Blindness/physiopathology ; Phenotype ; Photic Stimulation ; Retinal Bipolar Cells/physiology ; Vision, Ocular ; Visual Acuity/physiology
    SCR Disease Name:
    Night blindness, congenital stationary
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
    Autorzy:
    Tan MH; Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom.
    Mackay DS
    Cowing J
    Tran HV
    Smith AJ
    Wright GA
    Dev-Borman A
    Henderson RH
    Moradi P
    Russell-Eggitt I
    MacLaren RE
    Robson AG
    Cheetham ME
    Thompson DA
    Webster AR
    Michaelides M
    Ali RR
    Moore AT
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2012; Vol. 7 (3), pp. e32330. Date of Electronic Publication: 2012 Mar 06.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Carrier Proteins/*genetics
    Eye Proteins/*genetics
    Leber Congenital Amaurosis/*genetics
    Adaptor Proteins, Signal Transducing ; Adolescent ; Adult ; Case-Control Studies ; Child ; Child, Preschool ; Fluorescein Angiography ; Gene Expression Profiling ; Genetic Therapy ; Humans ; Leber Congenital Amaurosis/diagnosis ; Leber Congenital Amaurosis/therapy ; Mutation ; RNA Splice Sites ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.
    Autorzy:
    Sivaprasad S
    Kung BT
    Robson AG
    Black G
    Webster AR
    Bird A
    Egan C
    Pokaż więcej
    Źródło:
    Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2008 Jan-Feb; Vol. 36 (1), pp. 92-3.
    Typ publikacji:
    Case Reports; Letter
    MeSH Terms:
    Macula Lutea*
    DNA, Mitochondrial/*genetics
    Retinal Diseases/*genetics
    Adenine ; Adult ; Guanine ; Humans ; Male ; Phenotype ; Point Mutation ; Retinal Diseases/pathology
    Raport
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-16 z 16

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