Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
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| Title: | Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. |
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| Authors: | Van Laarhoven PM; Department of Pediatrics, Section of Clinical Genetics and Metabolism and., Neitzel LR; Department of Pediatrics, Section of Clinical Genetics and Metabolism and., Quintana AM; Department of Pediatrics, Section of Clinical Genetics and Metabolism and., Geiger EA; Department of Pediatrics, Section of Clinical Genetics and Metabolism and., Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine, Philadelphia, PA, USA and., Clouthier DE; Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Artinger KB; Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, CO, USA, Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ming JE; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine, Philadelphia, PA, USA and., Shaikh TH; Department of Pediatrics, Section of Clinical Genetics and Metabolism and, Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, CO, USA, tamim.shaikh@ucdenver.edu. |
| Source: | Human molecular genetics [Hum Mol Genet] 2015 Aug 01; Vol. 24 (15), pp. 4443-53. Date of Electronic Publication: 2015 May 13. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 25972376 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Van+Laarhoven+PM%22">Van Laarhoven PM</searchLink>; Department of Pediatrics, Section of Clinical Genetics and Metabolism and.<br /><searchLink fieldCode="AU" term="%22Neitzel+LR%22">Neitzel LR</searchLink>; Department of Pediatrics, Section of Clinical Genetics and Metabolism and.<br /><searchLink fieldCode="AU" term="%22Quintana+AM%22">Quintana AM</searchLink>; Department of Pediatrics, Section of Clinical Genetics and Metabolism and.<br /><searchLink fieldCode="AU" term="%22Geiger+EA%22">Geiger EA</searchLink>; Department of Pediatrics, Section of Clinical Genetics and Metabolism and.<br /><searchLink fieldCode="AU" term="%22Zackai+EH%22">Zackai EH</searchLink>; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine, Philadelphia, PA, USA and.<br /><searchLink fieldCode="AU" term="%22Clouthier+DE%22">Clouthier DE</searchLink>; Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Artinger+KB%22">Artinger KB</searchLink>; Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, CO, USA, Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Ming+JE%22">Ming JE</searchLink>; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, the University of Pennsylvania School of Medicine, Philadelphia, PA, USA and.<br /><searchLink fieldCode="AU" term="%22Shaikh+TH%22">Shaikh TH</searchLink>; Department of Pediatrics, Section of Clinical Genetics and Metabolism and, Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, CO, USA, tamim.shaikh@ucdenver.edu. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2015 Aug 01; Vol. 24 (15), pp. 4443-53. <i>Date of Electronic Publication: </i>2015 May 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=25972376 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/hmg/ddv180 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 4443 Titles: – TitleFull: Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Van Laarhoven PM – PersonEntity: Name: NameFull: Neitzel LR – PersonEntity: Name: NameFull: Quintana AM – PersonEntity: Name: NameFull: Geiger EA – PersonEntity: Name: NameFull: Zackai EH – PersonEntity: Name: NameFull: Clouthier DE – PersonEntity: Name: NameFull: Artinger KB – PersonEntity: Name: NameFull: Ming JE – PersonEntity: Name: NameFull: Shaikh TH IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2015 Aug 01 Type: published Y: 2015 Identifiers: – Type: issn-electronic Value: 1460-2083 Numbering: – Type: volume Value: 24 – Type: issue Value: 15 Titles: – TitleFull: Human molecular genetics Type: main |
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