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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Kumar, Raman; Corbett, Mark A; Van Bon, Bregje W M; Gardner, Alison; Woenig, Joshua A; Jolly, Lachlan A; Douglas, Evelyn; Friend, Kathryn; Tan, Chuan; Van Esch, Hilde; Holvoet, Maureen; Raynaud, Martine; Field, Michael; Leffler, Melanie; Budny, Bartlomiej; Wisniewska, Marzena; Badura-Stronka, Magdalena; Latos-Bielenska, Anna; Batanian, Jacqueline; Rosenfeld, Jill A; Basel-Vanagaite, Lina; Jensen, Corinna; Bienek, Melanie; Froyen, Guy; Ullmann, Reinhard; Hu, Hao; Love, Michael I; Haas, Stefan A; Stankiewicz, Pawel; Cheung, Sau Wai; Baxendale, Anne; Nicholl, Jillian; Thompson, Elizabeth M; Haan, Eric; Kalscheuer, Vera M; Gecz, Jozef.
Afiliação
  • Kumar R; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Corbett MA; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Van Bon BW; Radboud University Medical Center, 6525 GA, Nijmegen, The Netherlands.
  • Gardner A; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Woenig JA; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Jolly LA; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Douglas E; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.
  • Friend K; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.
  • Tan C; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Holvoet M; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.
  • Raynaud M; Centre Hospitalier Régional Universitaire, Service de Génétique, 37000 Tours, France.
  • Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Leffler M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Budny B; Department of Endocrinology, Metabolism and Internal Diseases and.
  • Wisniewska M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.
  • Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.
  • Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-355, Poland.
  • Batanian J; Department of Pediatrics, Saint Louis University, St Louis, MO 63104, USA.
  • Rosenfeld JA; Signature Genomic Laboratories, Spokane, WA 99207, USA, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Basel-Vanagaite L; Raphael Recanati Genetic Institute and Felsenstein Medical Research Center, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel.
  • Jensen C; Department of Human Molecular Genetics and.
  • Bienek M; Department of Human Molecular Genetics and.
  • Froyen G; Human Genome Laboratory, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium and.
  • Ullmann R; Department of Human Molecular Genetics and, Bundeswehr Institute of Radiobiology, 80937 Munich, Germany.
  • Hu H; Department of Human Molecular Genetics and.
  • Love MI; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.
  • Haas SA; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.
  • Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Baxendale A; South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.
  • Nicholl J; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.
  • Thompson EM; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.
  • Haan E; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.
  • Kalscheuer VM; Department of Human Molecular Genetics and.
  • Gecz J; School of Medicine, and the Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia, jozef.gecz@adelaide.edu.au.
Hum Mol Genet ; 24(25): 7171-81, 2015 Dec 20.
Article em En | MEDLINE | ID: mdl-26443594
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Antígenos Nucleares / Deficiência Intelectual Limite: Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Austrália País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Antígenos Nucleares / Deficiência Intelectual Limite: Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Austrália País de publicação: Reino Unido