Novel SUZ12 mutations in Weaver-like syndrome.
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| Title: | Novel SUZ12 mutations in Weaver-like syndrome. |
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| Authors: | Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Albuquerque EVA; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Nantes, France., Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Boguszewski MCS; Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil., Boguszewski CL; Department of Internal Medicine, Endocrine Division (SEMPR), Federal University of Paraná, Curitiba, Brazil., Lerario AM; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan., Funari MA; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil., Jorge AAL; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. |
| Source: | Clinical genetics [Clin Genet] 2018 Nov; Vol. 94 (5), pp. 461-466. Date of Electronic Publication: 2018 Aug 06. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet 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: 30019515 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel SUZ12 mutations in Weaver-like syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Imagawa+E%22">Imagawa E</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Albuquerque+EVA%22">Albuquerque EVA</searchLink>; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Mitsuhashi+S%22">Mitsuhashi S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Mizuguchi+T%22">Mizuguchi T</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyatake+S%22">Miyatake S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Takata+A%22">Takata A</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Miyake+N%22">Miyake N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Boguszewski+MCS%22">Boguszewski MCS</searchLink>; Department of Pediatrics, Federal University of Paraná, Curitiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Boguszewski+CL%22">Boguszewski CL</searchLink>; Department of Internal Medicine, Endocrine Division (SEMPR), Federal University of Paraná, Curitiba, Brazil.<br /><searchLink fieldCode="AU" term="%22Lerario+AM%22">Lerario AM</searchLink>; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.; Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, Michigan.<br /><searchLink fieldCode="AU" term="%22Funari+MA%22">Funari MA</searchLink>; Laboratorio de Hormonios e Genetica Molecular (LIM/42), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Jorge+AAL%22">Jorge AAL</searchLink>; Unidade de Endocrinologia Genetica (LIM25), Hospital das Clinicas da Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2018 Nov; Vol. 94 (5), pp. 461-466. <i>Date of Electronic Publication: </i>2018 Aug 06. – 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="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30019515 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.13415 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 461 Titles: – TitleFull: Novel SUZ12 mutations in Weaver-like syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Imagawa E – PersonEntity: Name: NameFull: Albuquerque EVA – PersonEntity: Name: NameFull: Isidor B – PersonEntity: Name: NameFull: Mitsuhashi S – PersonEntity: Name: NameFull: Mizuguchi T – PersonEntity: Name: NameFull: Miyatake S – PersonEntity: Name: NameFull: Takata A – PersonEntity: Name: NameFull: Miyake N – PersonEntity: Name: NameFull: Boguszewski MCS – PersonEntity: Name: NameFull: Boguszewski CL – PersonEntity: Name: NameFull: Lerario AM – PersonEntity: Name: NameFull: Funari MA – PersonEntity: Name: NameFull: Jorge AAL – PersonEntity: Name: NameFull: Matsumoto N IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: 2018 Nov Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1399-0004 Numbering: – Type: volume Value: 94 – Type: issue Value: 5 Titles: – TitleFull: Clinical genetics Type: main |
| ResultId | 1 |