A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
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| Title: | A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. |
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| Authors: | Velez G; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.; Medical Scientist Training Program, University of Iowa, Iowa City, Iowa 52242, USA., Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA., Schaefer KA; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA., Brooks B; Pediatric, Developmental, and Genetic Eye Disease Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA., Gakhar L; Department of Biochemistry, University of Iowa, Iowa City, Iowa 52242, USA.; Protein Crystallography Facility, University of Iowa, Iowa City, Iowa 52242, USA., Mahajan M; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA., Kahn P; Department of Pediatrics, Division of Pediatric Rheumatology, New York University, New York, New York 10016, USA., Tsang SH; Barbara and Donald Jonas Laboratory of Stem Cells and Regenerative Medicine and Bernard & Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Columbia University, New York, New York 10016, USA.; Department of Pathology & Cell Biology, College of Physicians & Surgeons, Columbia University, New York, New York 10032, USA., Ferguson PJ; Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA., Mahajan VB; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.; Palo Alto Veterans Administration, Palo Alto, California 94538, USA. |
| Source: | Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Jun 01; Vol. 4 (3). Date of Electronic Publication: 2018 Jun 01 (Print Publication: 2018). |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29472286 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Velez+G%22">Velez G</searchLink>; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.; Medical Scientist Training Program, University of Iowa, Iowa City, Iowa 52242, USA.<br /><searchLink fieldCode="AU" term="%22Bassuk+AG%22">Bassuk AG</searchLink>; Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.<br /><searchLink fieldCode="AU" term="%22Schaefer+KA%22">Schaefer KA</searchLink>; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.<br /><searchLink fieldCode="AU" term="%22Brooks+B%22">Brooks B</searchLink>; Pediatric, Developmental, and Genetic Eye Disease Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.<br /><searchLink fieldCode="AU" term="%22Gakhar+L%22">Gakhar L</searchLink>; Department of Biochemistry, University of Iowa, Iowa City, Iowa 52242, USA.; Protein Crystallography Facility, University of Iowa, Iowa City, Iowa 52242, USA.<br /><searchLink fieldCode="AU" term="%22Mahajan+M%22">Mahajan M</searchLink>; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.<br /><searchLink fieldCode="AU" term="%22Kahn+P%22">Kahn P</searchLink>; Department of Pediatrics, Division of Pediatric Rheumatology, New York University, New York, New York 10016, USA.<br /><searchLink fieldCode="AU" term="%22Tsang+SH%22">Tsang SH</searchLink>; Barbara and Donald Jonas Laboratory of Stem Cells and Regenerative Medicine and Bernard & Shirlee Brown Glaucoma Laboratory, Edward S. Harkness Eye Institute, Columbia University, New York, New York 10016, USA.; Department of Pathology & Cell Biology, College of Physicians & Surgeons, Columbia University, New York, New York 10032, USA.<br /><searchLink fieldCode="AU" term="%22Ferguson+PJ%22">Ferguson PJ</searchLink>; Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA.<br /><searchLink fieldCode="AU" term="%22Mahajan+VB%22">Mahajan VB</searchLink>; Omics Laboratory, Stanford University, Palo Alto, California 94304, USA.; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California 94304, USA.; Palo Alto Veterans Administration, Palo Alto, California 94538, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101660017%22">Cold Spring Harbor molecular case studies</searchLink> [Cold Spring Harb Mol Case Stud] 2018 Jun 01; Vol. 4 (3). <i>Date of Electronic Publication: </i>2018 Jun 01 (<i>Print Publication: </i>2018). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cold+Spring+Harbor+Laboratory+Press%22">Cold Spring Harbor Laboratory Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101660017 <i>Publication Model: </i>Electronic-Print <i>Cited Medium: </i>Internet <i>ISSN: </i>2373-2873 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223732873%22">23732873 </searchLink><i>NLM ISO Abbreviation: </i>Cold Spring Harb Mol Case Stud <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29472286 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1101/mcs.a002519 Languages: – Code: eng Text: English Titles: – TitleFull: A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Velez G – PersonEntity: Name: NameFull: Bassuk AG – PersonEntity: Name: NameFull: Schaefer KA – PersonEntity: Name: NameFull: Brooks B – PersonEntity: Name: NameFull: Gakhar L – PersonEntity: Name: NameFull: Mahajan M – PersonEntity: Name: NameFull: Kahn P – PersonEntity: Name: NameFull: Tsang SH – PersonEntity: Name: NameFull: Ferguson PJ – PersonEntity: Name: NameFull: Mahajan VB IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2018 Jun 01 Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 2373-2873 Numbering: – Type: volume Value: 4 – Type: issue Value: 3 Titles: – TitleFull: Cold Spring Harbor molecular case studies Type: main |
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