Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion.
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| Title: | Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion. |
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| Authors: | Vado Y; Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain.; NanoBioCel Research Group, Laboratory of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, Universidad del País Vasco/Euskal Herriko Unibertsitatea (UPV/EHU), Vitoria-Gasteiz, 01006 Araba, Spain., Pereda A; Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain., Llano-Rivas I; Service of Genetics, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain., Gorria-Redondo N; Service of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, 01009 Araba, Spain., Díez I; Department of Pediatric Endocrinology, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, 01009 Vitoria-Gasteiz, Spain., Perez de Nanclares G; Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain. |
| Source: | Genes [Genes (Basel)] 2020 Dec 05; Vol. 11 (12). Date of Electronic Publication: 2020 Dec 05. |
| Publication Type: | Case Reports; Research Support, Non-U.S. Gov't; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33291420 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Vado+Y%22">Vado Y</searchLink>; Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain.; NanoBioCel Research Group, Laboratory of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, Universidad del País Vasco/Euskal Herriko Unibertsitatea (UPV/EHU), Vitoria-Gasteiz, 01006 Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Pereda+A%22">Pereda A</searchLink>; Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Llano-Rivas+I%22">Llano-Rivas I</searchLink>; Service of Genetics, BioCruces Health Research Institute, Hospital Universitario Cruces, Barakaldo, 48903 Bizkaia, Spain.<br /><searchLink fieldCode="AU" term="%22Gorria-Redondo+N%22">Gorria-Redondo N</searchLink>; Service of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, 01009 Araba, Spain.<br /><searchLink fieldCode="AU" term="%22Díez+I%22">Díez I</searchLink>; Department of Pediatric Endocrinology, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, 01009 Vitoria-Gasteiz, Spain.<br /><searchLink fieldCode="AU" term="%22Perez+de+Nanclares+G%22">Perez de Nanclares G</searchLink>; Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, 01009 Araba, Spain. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2020 Dec 05; Vol. 11 (12). <i>Date of Electronic Publication: </i>2020 Dec 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Research Support, Non-U.S. Gov't; 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>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33291420 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/genes11121461 Languages: – Code: eng Text: English Titles: – TitleFull: Novel Variant in PLAG1 in a Familial Case with Silver-Russell Syndrome Suspicion. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vado Y – PersonEntity: Name: NameFull: Pereda A – PersonEntity: Name: NameFull: Llano-Rivas I – PersonEntity: Name: NameFull: Gorria-Redondo N – PersonEntity: Name: NameFull: Díez I – PersonEntity: Name: NameFull: Perez de Nanclares G IsPartOfRelationships: – BibEntity: Dates: – D: 05 M: 12 Text: 2020 Dec 05 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 2073-4425 Numbering: – Type: volume Value: 11 – Type: issue Value: 12 Titles: – TitleFull: Genes Type: main |
| ResultId | 1 |