Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
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| Title: | Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. |
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| Authors: | Stephen J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA, USA., Mian L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Kuptanon C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sinclair CM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Yildirimli D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Maynard DM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bryant J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Fischer R; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Vemulapalli M; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mullikin JC; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. mgaygun@mail.nih.gov.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. mgaygun@mail.nih.gov.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. mgaygun@mail.nih.gov. |
| Corporate Authors: | NISC Comparative Sequencing Program |
| Source: | Human genetics [Hum Genet] 2017 Apr; Vol. 136 (4), pp. 399-408. Date of Electronic Publication: 2017 Feb 20. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28220259 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Stephen+J%22">Stephen J</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Vilboux+T%22">Vilboux T</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA, USA.<br /><searchLink fieldCode="AU" term="%22Mian+L%22">Mian L</searchLink>; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kuptanon+C%22">Kuptanon C</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Sinclair+CM%22">Sinclair CM</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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, MD, USA.<br /><searchLink fieldCode="AU" term="%22Maynard+DM%22">Maynard DM</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bryant+J%22">Bryant J</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Fischer+R%22">Fischer R</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Vemulapalli+M%22">Vemulapalli M</searchLink>; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mullikin+JC%22">Mullikin JC</searchLink>; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Huizing+M%22">Huizing M</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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, MD, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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, MD, USA. malicdanm@mail.nih.gov.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov.<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, MD, USA. mgaygun@mail.nih.gov.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. mgaygun@mail.nih.gov.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. mgaygun@mail.nih.gov. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22NISC+Comparative+Sequencing+Program%22">NISC Comparative Sequencing Program</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2017 Apr; Vol. 136 (4), pp. 399-408. <i>Date of Electronic Publication: </i>2017 Feb 20. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-017-1765-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 399 Titles: – TitleFull: Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Stephen J – PersonEntity: Name: NameFull: Vilboux T – PersonEntity: Name: NameFull: Mian L – PersonEntity: Name: NameFull: Kuptanon C – PersonEntity: Name: NameFull: Sinclair CM – PersonEntity: Name: NameFull: Yildirimli D – PersonEntity: Name: NameFull: Maynard DM – PersonEntity: Name: NameFull: Bryant J – PersonEntity: Name: NameFull: Fischer R – PersonEntity: Name: NameFull: Vemulapalli M – PersonEntity: Name: NameFull: Mullikin JC – PersonEntity: Name: NameFull: Huizing M – PersonEntity: Name: NameFull: Gahl WA – PersonEntity: Name: NameFull: Malicdan MCV – PersonEntity: Name: NameFull: Gunay-Aygun M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2017 Apr Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 136 – Type: issue Value: 4 Titles: – TitleFull: Human genetics Type: main |
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