A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
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| Title: | A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. |
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| Authors: | Beunders G; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands., van de Kamp J; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester, UK., Morton J; Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, Birmingham, UK., Smets K; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., de Munnik SA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Schuurs-Hoeijmakers J; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Ceulemans B; Department of Neurology- Paediatric Neurology, University and University Hospital Antwerp, Antwerp, Belgium., Zollino M; Institute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University Rome, Italy., Hoffjan S; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany., Wieczorek S; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany., So J; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Canada Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada., Mercer L; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada., Walker T; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada., Velsher L; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada Genetics Program, North York General Hospital, Toronto, Canada., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Magee AC; Genetic Medicine, Belfast City Hospital, Belfast, UK., Elffers B; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, The Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Yntema HG; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Meijers-Heijboer EJ; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands., Sistermans EA; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands. |
| Corporate Authors: | DDD study |
| Source: | Journal of medical genetics [J Med Genet] 2016 Aug; Vol. 53 (8), pp. 523-32. Date of Electronic Publication: 2016 Apr 13. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 27075013 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+de+Kamp+J%22">van de Kamp J</searchLink>; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Vasudevan+P%22">Vasudevan P</searchLink>; Department of Clinical Genetics, University Hospitals of Leicester, Leicester, UK.<br /><searchLink fieldCode="AU" term="%22Morton+J%22">Morton J</searchLink>; Department of Clinical Genetics, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Smets+K%22">Smets K</searchLink>; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium Neurogenetics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium Laboratories of Neurogenetics and Neuropathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Munnik+SA%22">de Munnik SA</searchLink>; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schuurs-Hoeijmakers+J%22">Schuurs-Hoeijmakers J</searchLink>; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ceulemans+B%22">Ceulemans B</searchLink>; Department of Neurology- Paediatric Neurology, University and University Hospital Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Zollino+M%22">Zollino M</searchLink>; Institute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Hoffjan+S%22">Hoffjan S</searchLink>; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22Wieczorek+S%22">Wieczorek S</searchLink>; Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.<br /><searchLink fieldCode="AU" term="%22So+J%22">So J</searchLink>; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Canada Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Mercer+L%22">Mercer L</searchLink>; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada.<br /><searchLink fieldCode="AU" term="%22Walker+T%22">Walker T</searchLink>; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada.<br /><searchLink fieldCode="AU" term="%22Velsher+L%22">Velsher L</searchLink>; Northwestern Ontario Regional Genetics Program, Thunder Bay District Health Unit, Thunder Bay, Canada Genetics Program, North York General Hospital, Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Magee+AC%22">Magee AC</searchLink>; Genetic Medicine, Belfast City Hospital, Belfast, UK.<br /><searchLink fieldCode="AU" term="%22Elffers+B%22">Elffers B</searchLink>; Department of Medical Care for Patients with Intellectual Disability, AMSTA, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kooy+RF%22">Kooy RF</searchLink>; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Yntema+HG%22">Yntema HG</searchLink>; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Meijers-Heijboer+EJ%22">Meijers-Heijboer EJ</searchLink>; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sistermans+EA%22">Sistermans EA</searchLink>; Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22DDD+study%22">DDD study</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2016 Aug; Vol. 53 (8), pp. 523-32. <i>Date of Electronic Publication: </i>2016 Apr 13. – 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="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=27075013 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1136/jmedgenet-2015-103601 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 523 Titles: – TitleFull: A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Beunders G – PersonEntity: Name: NameFull: van de Kamp J – PersonEntity: Name: NameFull: Vasudevan P – PersonEntity: Name: NameFull: Morton J – PersonEntity: Name: NameFull: Smets K – PersonEntity: Name: NameFull: Kleefstra T – PersonEntity: Name: NameFull: de Munnik SA – PersonEntity: Name: NameFull: Schuurs-Hoeijmakers J – PersonEntity: Name: NameFull: Ceulemans B – PersonEntity: Name: NameFull: Zollino M – PersonEntity: Name: NameFull: Hoffjan S – PersonEntity: Name: NameFull: Wieczorek S – PersonEntity: Name: NameFull: So J – PersonEntity: Name: NameFull: Mercer L – PersonEntity: Name: NameFull: Walker T – PersonEntity: Name: NameFull: Velsher L – PersonEntity: Name: NameFull: Parker MJ – PersonEntity: Name: NameFull: Magee AC – PersonEntity: Name: NameFull: Elffers B – PersonEntity: Name: NameFull: Kooy RF – PersonEntity: Name: NameFull: Yntema HG – PersonEntity: Name: NameFull: Meijers-Heijboer EJ – PersonEntity: Name: NameFull: Sistermans EA IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2016 Aug Type: published Y: 2016 Identifiers: – Type: issn-electronic Value: 1468-6244 Numbering: – Type: volume Value: 53 – Type: issue Value: 8 Titles: – TitleFull: Journal of medical genetics Type: main |
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