Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?
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| Title: | Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? |
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| Authors: | Vuillaume ML; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France., Moizard MP; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France., Hammouche E; Service de Génétique, CHU Bretonneau, Tours, France., Delrue MA; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada., Perrin L; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France., Maftei C; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.; Cytogenetic Laboratory, CHU Sainte-Justine, Montreal, Canada., Dupont C; Unité Fonctionnelle de Cytogénétique, Département de Génétique, CHU Robert Debré, Paris, France., Drunat S; UF de Génétique Moléculaire, Département de Génétique, CHU Robert Debré, Paris, France., Cottereau E; Service de Génétique, CHU Bretonneau, Tours, France., Baumann C; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France., Toutain A; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France. |
| Source: | Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1111-1113. Date of Electronic Publication: 2018 Jan 25. |
| Publication Type: | Case Reports; Letter |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29372559 AccessLevel: 2 PubType: Report PubTypeId: report PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Vuillaume+ML%22">Vuillaume ML</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.<br /><searchLink fieldCode="AU" term="%22Moizard+MP%22">Moizard MP</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France.<br /><searchLink fieldCode="AU" term="%22Hammouche+E%22">Hammouche E</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.<br /><searchLink fieldCode="AU" term="%22Delrue+MA%22">Delrue MA</searchLink>; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Perrin+L%22">Perrin L</searchLink>; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Maftei+C%22">Maftei C</searchLink>; Medical Genetics Division, CHU Sainte-Justine, Montreal, Canada.; Cytogenetic Laboratory, CHU Sainte-Justine, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Dupont+C%22">Dupont C</searchLink>; Unité Fonctionnelle de Cytogénétique, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Drunat+S%22">Drunat S</searchLink>; UF de Génétique Moléculaire, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cottereau+E%22">Cottereau E</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.<br /><searchLink fieldCode="AU" term="%22Baumann+C%22">Baumann C</searchLink>; Unité de Génétique Clinique, Département de Génétique, CHU Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Service de Génétique, CHU Bretonneau, Tours, France.; Unité INSERM U930, Université François Rabelais, Tours, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2018 May; Vol. 93 (5), pp. 1111-1113. <i>Date of Electronic Publication: </i>2018 Jan 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Letter – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29372559 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.13151 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1111 Titles: – TitleFull: Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vuillaume ML – PersonEntity: Name: NameFull: Moizard MP – PersonEntity: Name: NameFull: Hammouche E – PersonEntity: Name: NameFull: Delrue MA – PersonEntity: Name: NameFull: Perrin L – PersonEntity: Name: NameFull: Maftei C – PersonEntity: Name: NameFull: Dupont C – PersonEntity: Name: NameFull: Drunat S – PersonEntity: Name: NameFull: Cottereau E – PersonEntity: Name: NameFull: Baumann C – PersonEntity: Name: NameFull: Toutain A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2018 May Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1399-0004 Numbering: – Type: volume Value: 93 – Type: issue Value: 5 Titles: – TitleFull: Clinical genetics Type: main |
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