Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
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| Title: | Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. |
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| Authors: | Nguyen TTM; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Murakami Y; Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan., Wigby KM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Baratang NV; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Rousseau J; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., St-Denis A; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Laniewski SC; University of Rochester Medical Center, New York, NY 14642, USA., Jones J; Greenwood Genetic Center, Greenwood, SC 29646, USA., Iglesias AD; NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY 10032, USA., Jones MC; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Masser-Frye D; Rady Children's Hospital-San Diego, San Diego, CA 92123, USA., Scheuerle AE; University of Texas, Southwestern Medical Center, Dallas, TX, USA., Perry DL; Illumina Inc., San Diego, CA 92121, USA., Taft RJ; Illumina Inc., San Diego, CA 92121, USA., Le Deist F; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada., Thompson M; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Kinoshita T; Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan., Campeau PM; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada. Electronic address: p.campeau@umontreal.ca. |
| Source: | American journal of human genetics [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 602-611. Date of Electronic Publication: 2018 Sep 27. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30269814 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Nguyen+TTM%22">Nguyen TTM</searchLink>; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Murakami+Y%22">Murakami Y</searchLink>; Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan.<br /><searchLink fieldCode="AU" term="%22Wigby+KM%22">Wigby KM</searchLink>; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA.<br /><searchLink fieldCode="AU" term="%22Baratang+NV%22">Baratang NV</searchLink>; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Rousseau+J%22">Rousseau J</searchLink>; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.<br /><searchLink fieldCode="AU" term="%22St-Denis+A%22">St-Denis A</searchLink>; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Laniewski+SC%22">Laniewski SC</searchLink>; University of Rochester Medical Center, New York, NY 14642, USA.<br /><searchLink fieldCode="AU" term="%22Jones+J%22">Jones J</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Iglesias+AD%22">Iglesias AD</searchLink>; NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY 10032, USA.<br /><searchLink fieldCode="AU" term="%22Jones+MC%22">Jones MC</searchLink>; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; Rady Children's Hospital-San Diego, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Scheuerle+AE%22">Scheuerle AE</searchLink>; University of Texas, Southwestern Medical Center, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Perry+DL%22">Perry DL</searchLink>; Illumina Inc., San Diego, CA 92121, USA.<br /><searchLink fieldCode="AU" term="%22Taft+RJ%22">Taft RJ</searchLink>; Illumina Inc., San Diego, CA 92121, USA.<br /><searchLink fieldCode="AU" term="%22Le+Deist+F%22">Le Deist F</searchLink>; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Thompson+M%22">Thompson M</searchLink>; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA.<br /><searchLink fieldCode="AU" term="%22Kinoshita+T%22">Kinoshita T</searchLink>; Research Institute for Microbial Diseases, Osaka University, Osaka 565-0871, Japan.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Centre Hospitalier Universitaire Sainte Justine Research Center, University of Montreal, Montreal, QC H3T1C5, Canada. Electronic address: p.campeau@umontreal.ca. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2018 Oct 04; Vol. 103 (4), pp. 602-611. <i>Date of Electronic Publication: </i>2018 Sep 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30269814 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ajhg.2018.08.014 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 602 Titles: – TitleFull: Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Nguyen TTM – PersonEntity: Name: NameFull: Murakami Y – PersonEntity: Name: NameFull: Wigby KM – PersonEntity: Name: NameFull: Baratang NV – PersonEntity: Name: NameFull: Rousseau J – PersonEntity: Name: NameFull: St-Denis A – PersonEntity: Name: NameFull: Rosenfeld JA – PersonEntity: Name: NameFull: Laniewski SC – PersonEntity: Name: NameFull: Jones J – PersonEntity: Name: NameFull: Iglesias AD – PersonEntity: Name: NameFull: Jones MC – PersonEntity: Name: NameFull: Masser-Frye D – PersonEntity: Name: NameFull: Scheuerle AE – PersonEntity: Name: NameFull: Perry DL – PersonEntity: Name: NameFull: Taft RJ – PersonEntity: Name: NameFull: Le Deist F – PersonEntity: Name: NameFull: Thompson M – PersonEntity: Name: NameFull: Kinoshita T – PersonEntity: Name: NameFull: Campeau PM IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 10 Text: 2018 Oct 04 Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1537-6605 Numbering: – Type: volume Value: 103 – Type: issue Value: 4 Titles: – TitleFull: American journal of human genetics Type: main |
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