A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
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| Title: | A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. |
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| Authors: | Abdulkarim B; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium., Nicolino M; Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Hospices Civils de Lyon, Lyon 1 University, Lyon, France INSERM U870, Lyon, France INSERM CIC201, Lyon, France marc.nicolino@chu-lyon.fr mcnop@ulb.ac.be cecile.julier@inserm.fr., Igoillo-Esteve M; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium., Daures M; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Romero S; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Philippi A; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Senée V; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France., Lopes M; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium., Cunha DA; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium., Harding HP; Cambridge Institute for Medical Research, University of Cambridge, and National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, U.K., Derbois C; Institut de Génomique, Centre National de Génotypage, Commissariat à l'Energie Atomique et aux Energies Alternatives, Evry, France., Bendelac N; Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Hospices Civils de Lyon, Lyon 1 University, Lyon, France., Hattersley AT; University of Exeter Medical School, University of Exeter, Exeter, U.K., Eizirik DL; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium., Ron D; Cambridge Institute for Medical Research, University of Cambridge, and National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, U.K., Cnop M; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium Division of Endocrinology, Erasmus Hospital, Brussels, Belgium marc.nicolino@chu-lyon.fr mcnop@ulb.ac.be cecile.julier@inserm.fr., Julier C; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France marc.nicolino@chu-lyon.fr mcnop@ulb.ac.be cecile.julier@inserm.fr. |
| Source: | Diabetes [Diabetes] 2015 Nov; Vol. 64 (11), pp. 3951-62. Date of Electronic Publication: 2015 Jul 09. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 26159176 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Abdulkarim+B%22">Abdulkarim B</searchLink>; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Nicolino+M%22">Nicolino M</searchLink>; Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Hospices Civils de Lyon, Lyon 1 University, Lyon, France INSERM U870, Lyon, France INSERM CIC201, Lyon, France marc.nicolino@chu-lyon.fr mcnop@ulb.ac.be cecile.julier@inserm.fr.<br /><searchLink fieldCode="AU" term="%22Igoillo-Esteve+M%22">Igoillo-Esteve M</searchLink>; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Daures+M%22">Daures M</searchLink>; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Romero+S%22">Romero S</searchLink>; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Philippi+A%22">Philippi A</searchLink>; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Senée+V%22">Senée V</searchLink>; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lopes+M%22">Lopes M</searchLink>; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Cunha+DA%22">Cunha DA</searchLink>; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Harding+HP%22">Harding HP</searchLink>; Cambridge Institute for Medical Research, University of Cambridge, and National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, U.K.<br /><searchLink fieldCode="AU" term="%22Derbois+C%22">Derbois C</searchLink>; Institut de Génomique, Centre National de Génotypage, Commissariat à l'Energie Atomique et aux Energies Alternatives, Evry, France.<br /><searchLink fieldCode="AU" term="%22Bendelac+N%22">Bendelac N</searchLink>; Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Hospices Civils de Lyon, Lyon 1 University, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Hattersley+AT%22">Hattersley AT</searchLink>; University of Exeter Medical School, University of Exeter, Exeter, U.K.<br /><searchLink fieldCode="AU" term="%22Eizirik+DL%22">Eizirik DL</searchLink>; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Ron+D%22">Ron D</searchLink>; Cambridge Institute for Medical Research, University of Cambridge, and National Institute for Health Research Cambridge Biomedical Research Centre, Cambridge, U.K.<br /><searchLink fieldCode="AU" term="%22Cnop+M%22">Cnop M</searchLink>; ULB Center for Diabetes Research, Université Libre de Bruxelles, Brussels, Belgium Division of Endocrinology, Erasmus Hospital, Brussels, Belgium marc.nicolino@chu-lyon.fr mcnop@ulb.ac.be cecile.julier@inserm.fr.<br /><searchLink fieldCode="AU" term="%22Julier+C%22">Julier C</searchLink>; INSERM UMR-S958, Faculté de Médecine Paris Diderot, Paris, France Université Paris Diderot, Sorbonne Paris Cité, Paris, France marc.nicolino@chu-lyon.fr mcnop@ulb.ac.be cecile.julier@inserm.fr. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220372763%22">Diabetes</searchLink> [Diabetes] 2015 Nov; Vol. 64 (11), pp. 3951-62. <i>Date of Electronic Publication: </i>2015 Jul 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; 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="%22American+Diabetes+Association%22">American Diabetes Association </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0372763 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1939-327X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200121797%22">00121797 </searchLink><i>NLM ISO Abbreviation: </i>Diabetes <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=26159176 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.2337/db15-0477 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 3951 Titles: – TitleFull: A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Abdulkarim B – PersonEntity: Name: NameFull: Nicolino M – PersonEntity: Name: NameFull: Igoillo-Esteve M – PersonEntity: Name: NameFull: Daures M – PersonEntity: Name: NameFull: Romero S – PersonEntity: Name: NameFull: Philippi A – PersonEntity: Name: NameFull: Senée V – PersonEntity: Name: NameFull: Lopes M – PersonEntity: Name: NameFull: Cunha DA – PersonEntity: Name: NameFull: Harding HP – PersonEntity: Name: NameFull: Derbois C – PersonEntity: Name: NameFull: Bendelac N – PersonEntity: Name: NameFull: Hattersley AT – PersonEntity: Name: NameFull: Eizirik DL – PersonEntity: Name: NameFull: Ron D – PersonEntity: Name: NameFull: Cnop M – PersonEntity: Name: NameFull: Julier C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: 2015 Nov Type: published Y: 2015 Identifiers: – Type: issn-electronic Value: 1939-327X Numbering: – Type: volume Value: 64 – Type: issue Value: 11 Titles: – TitleFull: Diabetes Type: main |
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