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A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Abdulkarim, Baroj; Nicolino, Marc; Igoillo-Esteve, Mariana; Daures, Mathilde; Romero, Sophie; Philippi, Anne; Senée, Valérie; Lopes, Miguel; Cunha, Daniel A; Harding, Heather P; Derbois, Céline; Bendelac, Nathalie; Hattersley, Andrew T; Eizirik, Décio L; Ron, David; Cnop, Miriam; Julier, Cécile.
Afiliação
  • 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.
Diabetes ; 64(11): 3951-62, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26159176
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Diabetes Mellitus / Proteína Fosfatase 1 / Transtornos do Crescimento / Microcefalia Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Diabetes Mellitus / Proteína Fosfatase 1 / Transtornos do Crescimento / Microcefalia Tipo de estudo: Etiology_studies Limite: Adolescent / Adult / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article