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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.
Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Gökhan; Reintjes, Nadine; Altmüller, Janine; Nürnberg, Peter; Cavalcanti, Denise P; Zabel, Bernhard; Warman, Matthew L; Bertola, Debora R; Wollnik, Bernd; Netzer, Christian.
Afiliación
  • Moosa S; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany; Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Yamamoto GL; Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil;
  • Garbes L; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
  • Keupp K; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology, University Hospital of Cologne, 50931 Cologne, Germany.
  • Beleza-Meireles A; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; Department of Clinical Genetics, St Michael's Hospital, University Hospitals Bristol, BS1 3NU, Bristol, UK.
  • Moreno CA; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, 13083-887, Brazil.
  • Valadares ER; Hospital das Clínicas da Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte 30130100, Brazil; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany.
  • de Sousa SB; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Genetics, Faculty of Medicine, University of Coimbra, 3000-531 Coimbra, Portugal.
  • Maia S; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Genetics, Faculty of Medicine, University of Coimbra, 3000-531 Coimbra, Portugal.
  • Saraiva J; Medical Genetics Unit, Hospital Pediátrico de Coimbra, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, Portugal; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-531 Coimbra, Portugal.
  • Honjo RS; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil.
  • Kim CA; Instituto de Biociências da Universidade de São Paulo, São Paulo, 05508-090, Brazil.
  • Cabral de Menezes H; Unidade de Endocrinologia, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil.
  • Lausch E; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany.
  • Lorini PV; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany; Institute of Human Genetics, University Hospital Halle, Martin Luther University Halle-Wittenberg, 06112 Halle, Germany.
  • Lamounier A; Hospital das Clínicas da Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte 30130100, Brazil.
  • Carniero TCB; Hospital das Clínicas da Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte 30130100, Brazil.
  • Giunta C; Connective Tissue Unit, Division of Metabolism, University Children's Hospital Zurich, 8032 Zurich, Switzerland.
  • Rohrbach M; Connective Tissue Unit, Division of Metabolism, University Children's Hospital Zurich, 8032 Zurich, Switzerland.
  • Janner M; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, CH-3010 Bern, Switzerland.
  • Semler O; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany; Department of Pediatrics, University Hospital Cologne, 50931 Cologne, Germany.
  • Beleggia F; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany; Clinic I of Internal Medicine, University Hospital Cologne, 50931 Cologne, Germany.
  • Li Y; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Yigit G; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany.
  • Reintjes N; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Cavalcanti DP; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, 13083-887, Brazil.
  • Zabel B; Division of Genetics, Children's Hospital, University of Freiburg, 79106 Freiburg, Germany; Medical Faculty of the University of Magdeburg, 39120 Magdeburg, Germany.
  • Warman ML; Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Bertola DR; Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, 05403-000, Brazil; Instituto de Biociências da Universidade de São Paulo, São Paulo, 05508-090, Brazil.
  • Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany; Cluster of Excellence, Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells (MBExC), University of Göttingen, 37073 Göttingen, Germany. Electronic address: bernd.wollnik@med.uni-goett
  • Netzer C; Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.
Am J Hum Genet ; 105(4): 836-843, 2019 10 03.
Article en En | MEDLINE | ID: mdl-31564437
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Chaperonas Moleculares / Mutación Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Chaperonas Moleculares / Mutación Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article