A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
Saved in:
| Title: | A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. |
|---|---|
| Authors: | Abad C; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. cabad@med.miami.edu., Cook MM; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. mcook@ggc.org., Cao L; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. LCao@med.miami.edu., Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA. juliejones@ggc.org., Rao NR; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. n.rao@miami.edu., Dukes-Rimsky L; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. ldrimsky@ggc.org., Pauly R; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. rpauly@ggc.org., Skinner C; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. cds11251977@gmail.com., Wang Y; School of Computing, Clemson University, Clemson, SC 29634, USA. yunshew@g.clemson.edu., Luo F; School of Computing, Clemson University, Clemson, SC 29634, USA. luofeng@clemson.edu., Stevenson RE; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. res@ggc.org., Walz K; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. KWalz@med.miami.edu.; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, FL 33136, USA. KWalz@med.miami.edu., Srivastava AK; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. anand@ggc.org.; Department of Genetics and Biochemsitry, Clemson University, Clemson, SC 29634, USA. anand@ggc.org. |
| Source: | Biology [Biology (Basel)] 2018 May 24; Vol. 7 (2). Date of Electronic Publication: 2018 May 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101587988 Publication Model: Electronic Cited Medium: Print ISSN: 2079-7737 (Print) Linking ISSN: 20797737 NLM ISO Abbreviation: Biology (Basel) Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 29794985 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Abad+C%22">Abad C</searchLink>; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. cabad@med.miami.edu.<br /><searchLink fieldCode="AU" term="%22Cook+MM%22">Cook MM</searchLink>; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. mcook@ggc.org.<br /><searchLink fieldCode="AU" term="%22Cao+L%22">Cao L</searchLink>; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. LCao@med.miami.edu.<br /><searchLink fieldCode="AU" term="%22Jones+JR%22">Jones JR</searchLink>; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA. juliejones@ggc.org.<br /><searchLink fieldCode="AU" term="%22Rao+NR%22">Rao NR</searchLink>; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. n.rao@miami.edu.<br /><searchLink fieldCode="AU" term="%22Dukes-Rimsky+L%22">Dukes-Rimsky L</searchLink>; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. ldrimsky@ggc.org.<br /><searchLink fieldCode="AU" term="%22Pauly+R%22">Pauly R</searchLink>; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. rpauly@ggc.org.<br /><searchLink fieldCode="AU" term="%22Skinner+C%22">Skinner C</searchLink>; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. cds11251977@gmail.com.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; School of Computing, Clemson University, Clemson, SC 29634, USA. yunshew@g.clemson.edu.<br /><searchLink fieldCode="AU" term="%22Luo+F%22">Luo F</searchLink>; School of Computing, Clemson University, Clemson, SC 29634, USA. luofeng@clemson.edu.<br /><searchLink fieldCode="AU" term="%22Stevenson+RE%22">Stevenson RE</searchLink>; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. res@ggc.org.<br /><searchLink fieldCode="AU" term="%22Walz+K%22">Walz K</searchLink>; John P. Hussman Institute for Human Genomics, University of Miami, FL 33136, USA. KWalz@med.miami.edu.; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, FL 33136, USA. KWalz@med.miami.edu.<br /><searchLink fieldCode="AU" term="%22Srivastava+AK%22">Srivastava AK</searchLink>; J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA. anand@ggc.org.; Department of Genetics and Biochemsitry, Clemson University, Clemson, SC 29634, USA. anand@ggc.org. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101587988%22">Biology</searchLink> [Biology (Basel)] 2018 May 24; Vol. 7 (2). <i>Date of Electronic Publication: </i>2018 May 24. – 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="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101587988 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2079-7737 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220797737%22">20797737 </searchLink><i>NLM ISO Abbreviation: </i>Biology (Basel) <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=29794985 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/biology7020031 Languages: – Code: eng Text: English Titles: – TitleFull: A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Abad C – PersonEntity: Name: NameFull: Cook MM – PersonEntity: Name: NameFull: Cao L – PersonEntity: Name: NameFull: Jones JR – PersonEntity: Name: NameFull: Rao NR – PersonEntity: Name: NameFull: Dukes-Rimsky L – PersonEntity: Name: NameFull: Pauly R – PersonEntity: Name: NameFull: Skinner C – PersonEntity: Name: NameFull: Wang Y – PersonEntity: Name: NameFull: Luo F – PersonEntity: Name: NameFull: Stevenson RE – PersonEntity: Name: NameFull: Walz K – PersonEntity: Name: NameFull: Srivastava AK IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 05 Text: 2018 May 24 Type: published Y: 2018 Identifiers: – Type: issn-print Value: 2079-7737 Numbering: – Type: volume Value: 7 – Type: issue Value: 2 Titles: – TitleFull: Biology Type: main |
| ResultId | 1 |
