Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
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| Title: | Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. |
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| Authors: | Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Inova Translational Medicine Institute, Falls Church, Virginia, USA., Doherty DA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Glass IA; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Phelps IG; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Cullinane AR; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Anatomy, Howard University College of Medicine, Washington DC, USA., Zein W; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA., Brooks BP; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA., Soldatos A; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Oden NL; The EMMES Corporation, Rockville, Maryland, USA., Yildirimli D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Vemulapalli M; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Nisc Comparative Sequencing Program; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Aug; Vol. 19 (8), pp. 875-882. Date of Electronic Publication: 2017 Jan 26. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28125082 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Vilboux+T%22">Vilboux T</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Inova Translational Medicine Institute, Falls Church, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Doherty+DA%22">Doherty DA</searchLink>; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Glass+IA%22">Glass IA</searchLink>; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Parisi+MA%22">Parisi MA</searchLink>; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Phelps+IG%22">Phelps IG</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Cullinane+AR%22">Cullinane AR</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Anatomy, Howard University College of Medicine, Washington DC, USA.<br /><searchLink fieldCode="AU" term="%22Zein+W%22">Zein W</searchLink>; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Brooks+BP%22">Brooks BP</searchLink>; Ophthalmic Genetics &Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Heller+T%22">Heller T</searchLink>; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Soldatos+A%22">Soldatos A</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Oden+NL%22">Oden NL</searchLink>; The EMMES Corporation, Rockville, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Yildirimli+D%22">Yildirimli D</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Vemulapalli+M%22">Vemulapalli M</searchLink>; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Mullikin+JC%22">Mullikin JC</searchLink>; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Nisc+Comparative+Sequencing+Program%22">Nisc Comparative Sequencing Program</searchLink>; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Gunay-Aygun+M%22">Gunay-Aygun M</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2017 Aug; Vol. 19 (8), pp. 875-882. <i>Date of Electronic Publication: </i>2017 Jan 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28125082 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/gim.2016.204 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 875 Titles: – TitleFull: Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vilboux T – PersonEntity: Name: NameFull: Doherty DA – PersonEntity: Name: NameFull: Glass IA – PersonEntity: Name: NameFull: Parisi MA – PersonEntity: Name: NameFull: Phelps IG – PersonEntity: Name: NameFull: Cullinane AR – PersonEntity: Name: NameFull: Zein W – PersonEntity: Name: NameFull: Brooks BP – PersonEntity: Name: NameFull: Heller T – PersonEntity: Name: NameFull: Soldatos A – PersonEntity: Name: NameFull: Oden NL – PersonEntity: Name: NameFull: Yildirimli D – PersonEntity: Name: NameFull: Vemulapalli M – PersonEntity: Name: NameFull: Mullikin JC – PersonEntity: Name: NameFull: Nisc Comparative Sequencing Program – PersonEntity: Name: NameFull: Malicdan MCV – PersonEntity: Name: NameFull: Gahl WA – PersonEntity: Name: NameFull: Gunay-Aygun M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2017 Aug Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1530-0366 Numbering: – Type: volume Value: 19 – Type: issue Value: 8 Titles: – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics Type: main |
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