Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
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| Title: | Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort. |
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| Authors: | Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Vermeirsch S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Pontikos N; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Martin-Gutierrez MP; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Daich Varela M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Malka S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Schiff E; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Knight H; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Wright G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Jurkute N; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Neuro-Ophhalmology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom., Simcoe MJ; UCL Institute of Ophthalmology, University College London, United Kingdom., Yu-Wai-Man P; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Moosajee M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Michaelides M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Mahroo OA; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Ophthalmology, St Thomas' Hospital, London, United Kingdom., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom. Electronic address: g.arno@ucl.ac.uk. |
| Source: | Ophthalmology. Retina [Ophthalmol Retina] 2024 Jul; Vol. 8 (7), pp. 699-709. Date of Electronic Publication: 2024 Jan 12. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Published by Elsevier Inc. on behalf of American Academy of Ophthalmology Country of Publication: United States NLM ID: 101695048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2468-6530 (Electronic) Linking ISSN: 24686530 NLM ISO Abbreviation: Ophthalmol Retina Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38219857 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Vermeirsch+S%22">Vermeirsch S</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pontikos+N%22">Pontikos N</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Martin-Gutierrez+MP%22">Martin-Gutierrez MP</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Daich+Varela+M%22">Daich Varela M</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Malka+S%22">Malka S</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Schiff+E%22">Schiff E</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Knight+H%22">Knight H</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Wright+G%22">Wright G</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jurkute+N%22">Jurkute N</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Neuro-Ophhalmology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Simcoe+MJ%22">Simcoe MJ</searchLink>; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Yu-Wai-Man+P%22">Yu-Wai-Man P</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Moosajee+M%22">Moosajee M</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Michaelides+M%22">Michaelides M</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Mahroo+OA%22">Mahroo OA</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom; Department of Ophthalmology, St Thomas' Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Arno+G%22">Arno G</searchLink>; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom; UCL Institute of Ophthalmology, University College London, United Kingdom. Electronic address: g.arno@ucl.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101695048%22">Ophthalmology. Retina</searchLink> [Ophthalmol Retina] 2024 Jul; Vol. 8 (7), pp. 699-709. <i>Date of Electronic Publication: </i>2024 Jan 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Published+by+Elsevier+Inc%2E+on+behalf+of+American+Academy+of+Ophthalmology%22">Published by Elsevier Inc. on behalf of American Academy of Ophthalmology </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101695048 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2468-6530 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224686530%22">24686530 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmol Retina <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.oret.2024.01.012 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 699 Titles: – TitleFull: Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Lin S – PersonEntity: Name: NameFull: Vermeirsch S – PersonEntity: Name: NameFull: Pontikos N – PersonEntity: Name: NameFull: Martin-Gutierrez MP – PersonEntity: Name: NameFull: Daich Varela M – PersonEntity: Name: NameFull: Malka S – PersonEntity: Name: NameFull: Schiff E – PersonEntity: Name: NameFull: Knight H – PersonEntity: Name: NameFull: Wright G – PersonEntity: Name: NameFull: Jurkute N – PersonEntity: Name: NameFull: Simcoe MJ – PersonEntity: Name: NameFull: Yu-Wai-Man P – PersonEntity: Name: NameFull: Moosajee M – PersonEntity: Name: NameFull: Michaelides M – PersonEntity: Name: NameFull: Mahroo OA – PersonEntity: Name: NameFull: Webster AR – PersonEntity: Name: NameFull: Arno G IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2024 Jul Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 2468-6530 Numbering: – Type: volume Value: 8 – Type: issue Value: 7 Titles: – TitleFull: Ophthalmology. Retina Type: main |
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