Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
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| Title: | Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. |
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| Authors: | Bijlsma EK; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. e.k.bijlsma@lumc.nl, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA |
| Source: | European journal of medical genetics [Eur J Med Genet] 2012 Jun; Vol. 55 (6-7), pp. 404-13. Date of Electronic Publication: 2012 Mar 29. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 22522176 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bijlsma+EK%22">Bijlsma EK</searchLink>; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. e.k.bijlsma@lumc.nl<br /><searchLink fieldCode="AU" term="%22Collins+A%22">Collins A</searchLink><br /><searchLink fieldCode="AU" term="%22Papa+FT%22">Papa FT</searchLink><br /><searchLink fieldCode="AU" term="%22Tejada+MI%22">Tejada MI</searchLink><br /><searchLink fieldCode="AU" term="%22Wheeler+P%22">Wheeler P</searchLink><br /><searchLink fieldCode="AU" term="%22Peeters+EA%22">Peeters EA</searchLink><br /><searchLink fieldCode="AU" term="%22Gijsbers+AC%22">Gijsbers AC</searchLink><br /><searchLink fieldCode="AU" term="%22van+de+Kamp+JM%22">van de Kamp JM</searchLink><br /><searchLink fieldCode="AU" term="%22Kriek+M%22">Kriek M</searchLink><br /><searchLink fieldCode="AU" term="%22Losekoot+M%22">Losekoot M</searchLink><br /><searchLink fieldCode="AU" term="%22Broekma+AJ%22">Broekma AJ</searchLink><br /><searchLink fieldCode="AU" term="%22Crolla+JA%22">Crolla JA</searchLink><br /><searchLink fieldCode="AU" term="%22Pollazzon+M%22">Pollazzon M</searchLink><br /><searchLink fieldCode="AU" term="%22Mucciolo+M%22">Mucciolo M</searchLink><br /><searchLink fieldCode="AU" term="%22Katzaki+E%22">Katzaki E</searchLink><br /><searchLink fieldCode="AU" term="%22Disciglio+V%22">Disciglio V</searchLink><br /><searchLink fieldCode="AU" term="%22Ferreri+MI%22">Ferreri MI</searchLink><br /><searchLink fieldCode="AU" term="%22Marozza+A%22">Marozza A</searchLink><br /><searchLink fieldCode="AU" term="%22Mencarelli+MA%22">Mencarelli MA</searchLink><br /><searchLink fieldCode="AU" term="%22Castagnini+C%22">Castagnini C</searchLink><br /><searchLink fieldCode="AU" term="%22Dosa+L%22">Dosa L</searchLink><br /><searchLink fieldCode="AU" term="%22Ariani+F%22">Ariani F</searchLink><br /><searchLink fieldCode="AU" term="%22Mari+F%22">Mari F</searchLink><br /><searchLink fieldCode="AU" term="%22Canitano+R%22">Canitano R</searchLink><br /><searchLink fieldCode="AU" term="%22Hayek+G%22">Hayek G</searchLink><br /><searchLink fieldCode="AU" term="%22Botella+MP%22">Botella MP</searchLink><br /><searchLink fieldCode="AU" term="%22Gener+B%22">Gener B</searchLink><br /><searchLink fieldCode="AU" term="%22Mínguez+M%22">Mínguez M</searchLink><br /><searchLink fieldCode="AU" term="%22Renieri+A%22">Renieri A</searchLink><br /><searchLink fieldCode="AU" term="%22Ruivenkamp+CA%22">Ruivenkamp CA</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2012 Jun; Vol. 55 (6-7), pp. 404-13. <i>Date of Electronic Publication: </i>2012 Mar 29. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; 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>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=22522176 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ejmg.2012.02.009 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 404 Titles: – TitleFull: Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bijlsma EK – PersonEntity: Name: NameFull: Collins A – PersonEntity: Name: NameFull: Papa FT – PersonEntity: Name: NameFull: Tejada MI – PersonEntity: Name: NameFull: Wheeler P – PersonEntity: Name: NameFull: Peeters EA – PersonEntity: Name: NameFull: Gijsbers AC – PersonEntity: Name: NameFull: van de Kamp JM – PersonEntity: Name: NameFull: Kriek M – PersonEntity: Name: NameFull: Losekoot M – PersonEntity: Name: NameFull: Broekma AJ – PersonEntity: Name: NameFull: Crolla JA – PersonEntity: Name: NameFull: Pollazzon M – PersonEntity: Name: NameFull: Mucciolo M – PersonEntity: Name: NameFull: Katzaki E – PersonEntity: Name: NameFull: Disciglio V – PersonEntity: Name: NameFull: Ferreri MI – PersonEntity: Name: NameFull: Marozza A – PersonEntity: Name: NameFull: Mencarelli MA – PersonEntity: Name: NameFull: Castagnini C – PersonEntity: Name: NameFull: Dosa L – PersonEntity: Name: NameFull: Ariani F – PersonEntity: Name: NameFull: Mari F – PersonEntity: Name: NameFull: Canitano R – PersonEntity: Name: NameFull: Hayek G – PersonEntity: Name: NameFull: Botella MP – PersonEntity: Name: NameFull: Gener B – PersonEntity: Name: NameFull: Mínguez M – PersonEntity: Name: NameFull: Renieri A – PersonEntity: Name: NameFull: Ruivenkamp CA IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2012 Jun Type: published Y: 2012 Identifiers: – Type: issn-electronic Value: 1878-0849 Numbering: – Type: volume Value: 55 – Type: issue Value: 6-7 Titles: – TitleFull: European journal of medical genetics Type: main |
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