Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
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| Title: | Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. |
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| Authors: | Panagiotou ES; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Fernandez-Fuentes N; Institute of Biological, Environmental & Rural Sciences, Aberystwyth University, United Kingdom., Farraj LA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.; Eye Clinic, St. James's University Hospital, Leeds, United Kingdom., Elçioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.; Eastern Mediterrean University of Medical School, Cyprus, Turkey., Jafri H; Fatima Jinnah Medical University, Lahore, Pakistan., Cerman E; Department of Ophthalmology, Marmara University Medical School, Istanbul, Turkey., Parry DA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Logan CV; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Johnson CA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom., Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom. |
| Source: | Molecular vision [Mol Vis] 2022 May 17; Vol. 28, pp. 57-69. Date of Electronic Publication: 2022 May 17 (Print Publication: 2022). |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35693420 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Panagiotou+ES%22">Panagiotou ES</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Fernandez-Fuentes+N%22">Fernandez-Fuentes N</searchLink>; Institute of Biological, Environmental & Rural Sciences, Aberystwyth University, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Farraj+LA%22">Farraj LA</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22McKibbin+M%22">McKibbin M</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.; Eye Clinic, St. James's University Hospital, Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Elçioglu+NH%22">Elçioglu NH</searchLink>; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.; Eastern Mediterrean University of Medical School, Cyprus, Turkey.<br /><searchLink fieldCode="AU" term="%22Jafri+H%22">Jafri H</searchLink>; Fatima Jinnah Medical University, Lahore, Pakistan.<br /><searchLink fieldCode="AU" term="%22Cerman+E%22">Cerman E</searchLink>; Department of Ophthalmology, Marmara University Medical School, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Parry+DA%22">Parry DA</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Logan+CV%22">Logan CV</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Johnson+CA%22">Johnson CA</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Inglehearn+CF%22">Inglehearn CF</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Toomes+C%22">Toomes C</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ali+M%22">Ali M</searchLink>; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, United Kingdom. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229605351%22">Molecular vision</searchLink> [Mol Vis] 2022 May 17; Vol. 28, pp. 57-69. <i>Date of Electronic Publication: </i>2022 May 17 (<i>Print Publication: </i>2022). – 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="%22Molecular+Vision%22">Molecular Vision </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9605351 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1090-0535 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210900535%22">10900535 </searchLink><i>NLM ISO Abbreviation: </i>Mol Vis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35693420 |
| RecordInfo | BibRecord: BibEntity: Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 57 Titles: – TitleFull: Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Panagiotou ES – PersonEntity: Name: NameFull: Fernandez-Fuentes N – PersonEntity: Name: NameFull: Farraj LA – PersonEntity: Name: NameFull: McKibbin M – PersonEntity: Name: NameFull: Elçioglu NH – PersonEntity: Name: NameFull: Jafri H – PersonEntity: Name: NameFull: Cerman E – PersonEntity: Name: NameFull: Parry DA – PersonEntity: Name: NameFull: Logan CV – PersonEntity: Name: NameFull: Johnson CA – PersonEntity: Name: NameFull: Inglehearn CF – PersonEntity: Name: NameFull: Toomes C – PersonEntity: Name: NameFull: Ali M IsPartOfRelationships: – BibEntity: Dates: – D: 17 M: 05 Text: 2022 May 17 Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1090-0535 Numbering: – Type: volume Value: 28 Titles: – TitleFull: Molecular vision Type: main |
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