Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
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| Title: | Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. |
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| Authors: | Meester JA; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Vandeweyer G; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Pintelon I; Department of Cell Biology and Histology, University of Antwerp, Antwerp, Belgium., Lammens M; Department of Pathology, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium., Van Hoorick L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., De Belder S; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Waitzman K; Department of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Young L; Department of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Markham LW; Divisions of Pediatric and Adult Cardiology, Vanderbilt University, Nashville, Tennessee, USA., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK., Richer J; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Beauchesne LM; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada., Unger S; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Superti-Furga A; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Prsa M; Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland., Dhillon R; The Heart Unit, Birmingham Children's Hospital, Birmingham, UK., Reyniers E; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Dietz HC; Howard Hughes Medical Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Wuyts W; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Mortier G; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Verstraeten A; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Van Laer L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Loeys BL; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Apr; Vol. 19 (4), pp. 386-395. Date of Electronic Publication: 2016 Sep 15. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| 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: 27632686 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Meester+JA%22">Meester JA</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Vandeweyer+G%22">Vandeweyer G</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Pintelon+I%22">Pintelon I</searchLink>; Department of Cell Biology and Histology, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Lammens+M%22">Lammens M</searchLink>; Department of Pathology, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Hoorick+L%22">Van Hoorick L</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Belder+S%22">De Belder S</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Waitzman+K%22">Waitzman K</searchLink>; Department of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Young+L%22">Young L</searchLink>; Department of Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Markham+LW%22">Markham LW</searchLink>; Divisions of Pediatric and Adult Cardiology, Vanderbilt University, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Vogt+J%22">Vogt J</searchLink>; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Richer+J%22">Richer J</searchLink>; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Beauchesne+LM%22">Beauchesne LM</searchLink>; Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Unger+S%22">Unger S</searchLink>; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Superti-Furga+A%22">Superti-Furga A</searchLink>; Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Prsa+M%22">Prsa M</searchLink>; Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Dhillon+R%22">Dhillon R</searchLink>; The Heart Unit, Birmingham Children's Hospital, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Reyniers+E%22">Reyniers E</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Dietz+HC%22">Dietz HC</searchLink>; Howard Hughes Medical Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Wuyts+W%22">Wuyts W</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Mortier+G%22">Mortier G</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Verstraeten+A%22">Verstraeten A</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Laer+L%22">Van Laer L</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Loeys+BL%22">Loeys BL</searchLink>; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. – 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 Apr; Vol. 19 (4), pp. 386-395. <i>Date of Electronic Publication: </i>2016 Sep 15. – 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="%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=27632686 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/gim.2016.126 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 386 Titles: – TitleFull: Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Meester JA – PersonEntity: Name: NameFull: Vandeweyer G – PersonEntity: Name: NameFull: Pintelon I – PersonEntity: Name: NameFull: Lammens M – PersonEntity: Name: NameFull: Van Hoorick L – PersonEntity: Name: NameFull: De Belder S – PersonEntity: Name: NameFull: Waitzman K – PersonEntity: Name: NameFull: Young L – PersonEntity: Name: NameFull: Markham LW – PersonEntity: Name: NameFull: Vogt J – PersonEntity: Name: NameFull: Richer J – PersonEntity: Name: NameFull: Beauchesne LM – PersonEntity: Name: NameFull: Unger S – PersonEntity: Name: NameFull: Superti-Furga A – PersonEntity: Name: NameFull: Prsa M – PersonEntity: Name: NameFull: Dhillon R – PersonEntity: Name: NameFull: Reyniers E – PersonEntity: Name: NameFull: Dietz HC – PersonEntity: Name: NameFull: Wuyts W – PersonEntity: Name: NameFull: Mortier G – PersonEntity: Name: NameFull: Verstraeten A – PersonEntity: Name: NameFull: Van Laer L – PersonEntity: Name: NameFull: Loeys BL IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2017 Apr Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1530-0366 Numbering: – Type: volume Value: 19 – Type: issue Value: 4 Titles: – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics Type: main |
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