Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene.
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| Title: | Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. |
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| Authors: | Sonmez FM; Department of Child Neurology, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Uctepe E; Department of Medical Genetics, Health Sciences University, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey., Gunduz M; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey; Department of Otolaryngology, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Gormez Z; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey., Erpolat S; Department of Dermatology, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Oznur M; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey., Sagiroglu MS; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey., Demirci H; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey., Gunduz E; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey. |
| Source: | Intractable & rare diseases research [Intractable Rare Dis Res] 2016 Aug; Vol. 5 (3), pp. 222-6. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 27672547 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Sonmez+FM%22">Sonmez FM</searchLink>; Department of Child Neurology, Turgut Özal University Faculty of Medicine, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Uctepe+E%22">Uctepe E</searchLink>; Department of Medical Genetics, Health Sciences University, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Gunduz+M%22">Gunduz M</searchLink>; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey; Department of Otolaryngology, Turgut Özal University Faculty of Medicine, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Gormez+Z%22">Gormez Z</searchLink>; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey.<br /><searchLink fieldCode="AU" term="%22Erpolat+S%22">Erpolat S</searchLink>; Department of Dermatology, Turgut Özal University Faculty of Medicine, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Oznur+M%22">Oznur M</searchLink>; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Sagiroglu+MS%22">Sagiroglu MS</searchLink>; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey.<br /><searchLink fieldCode="AU" term="%22Demirci+H%22">Demirci H</searchLink>; Advanced Genomics and Bioinformatics Research Center, The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM), Kocaeli, Turkey.<br /><searchLink fieldCode="AU" term="%22Gunduz+E%22">Gunduz E</searchLink>; Department of Medical Genetics, Turgut Özal University Faculty of Medicine, Ankara, Turkey. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101586847%22">Intractable & rare diseases research</searchLink> [Intractable Rare Dis Res] 2016 Aug; Vol. 5 (3), pp. 222-6. – 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="%22International+Advancement+Center+for+Medicine+%26+Health+Research+Co%2E+%28IACMHR+Co%2E%29%22">International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) </searchLink><i>Country of Publication: </i>Japan <i>NLM ID: </i>101586847 <i>Publication Model: </i>Print <i>Cited Medium: </i>Print <i>ISSN: </i>2186-3644 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221863644%22">21863644 </searchLink><i>NLM ISO Abbreviation: </i>Intractable Rare Dis Res <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=27672547 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.5582/irdr.2014.01040 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 222 Titles: – TitleFull: Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sonmez FM – PersonEntity: Name: NameFull: Uctepe E – PersonEntity: Name: NameFull: Gunduz M – PersonEntity: Name: NameFull: Gormez Z – PersonEntity: Name: NameFull: Erpolat S – PersonEntity: Name: NameFull: Oznur M – PersonEntity: Name: NameFull: Sagiroglu MS – PersonEntity: Name: NameFull: Demirci H – PersonEntity: Name: NameFull: Gunduz E IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2016 Aug Type: published Y: 2016 Identifiers: – Type: issn-print Value: 2186-3644 Numbering: – Type: volume Value: 5 – Type: issue Value: 3 Titles: – TitleFull: Intractable & rare diseases research Type: main |
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