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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Frints, Suzanna G M; Ozanturk, Aysegul; Rodríguez Criado, Germán; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; E Hickey, Scott; Kammoun, Molka; Gripp, Karen W; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mihalic Mosher, Theresa; Kelly, Benjamin J; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C; van Roozendaal, Kees E P; Hu, Hao; Haas, Stefan A; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M.
Afiliación
  • Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands. s.frints@mumc.nl.
  • Ozanturk A; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands. s.frints@mumc.nl.
  • Rodríguez Criado G; Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA.
  • Grasshoff U; Unidad de Genética Clínica, Hospital Virgen del Rocío, Sevilla, 41920, Spain.
  • de Hoon B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany.
  • Field M; Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands.
  • Manouvrier-Hanu S; Department of Gynaecology and Obstetrics, Erasmus University Medical Center, Rotterdam, 3015 CN, The Netherlands.
  • E Hickey S; GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, 2298, Australia.
  • Kammoun M; Clinique de Génétique médicale Guy Fontaine, Centre de référence maladies rares Anomalies du développement Hôpital Jeanne de Flandre, Lille, 59000, France.
  • Gripp KW; EA 7364 RADEME Maladies Rares du Développement et du Métabolisme, Faculté de Médecine, Université de Lille, Lille, 59000, France.
  • Bauer C; Division of Molecular & Human Genetics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
  • Schroeder C; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.
  • Toutain A; Center for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium.
  • Mihalic Mosher T; Alfred I. duPont Hospital for Children Nemours, Wilmington, DE, 19803, USA.
  • Kelly BJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany.
  • White P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany.
  • Dufke A; Service de Génétique, Hôpital Bretonneau, CHU de Tours, Tours, 37044, France.
  • Rentmeester E; UMR 1253, iBrain, Université de Tours, Inserm, Tours, 37032, France.
  • Moon S; Division of Molecular & Human Genetics, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
  • Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.
  • van Roozendaal KEP; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
  • Hu H; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
  • Haas SA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.
  • Ropers HH; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
  • Murray L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, 72076, Germany.
  • Haan E; Department of Developmental Biology, Erasmus University Medical Center, Rotterdam, 3015 CN, Rotterdam, The Netherlands.
  • Shaw M; Center for Human Disease Modeling and Departments of Pediatrics and Psychiatry, Duke University, Durham, NC, 27710, USA.
  • Carroll R; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA.
  • Friend K; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.
  • Liebelt J; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands.
  • Hobson L; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands.
  • De Rademaeker M; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
  • Geraedts J; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
  • Fryns JP; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
  • Vermeesch J; GOLD (Genetics of Learning and Disability) Service, Hunter Genetics, Waratah, NSW, 2298, Australia.
  • Raynaud M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.
  • Riess O; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), North Adelaide, SA, 5006, Australia.
  • Gribnau J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.
  • Katsanis N; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia.
  • Devriendt K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, 5006, Australia.
  • Bauer P; South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), North Adelaide, SA, 5006, Australia.
  • Gecz J; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, 5006, Australia.
  • Golzio C; Centre for Medical Genetics, Reproduction and Genetics, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel (VUB), UZ Brussel, 1090, Brussels, Belgium.
  • Gontan C; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, 6202 AZ, The Netherlands.
  • Kalscheuer VM; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, GROW, FHML, Maastricht University, Maastricht, 6200 MD, The Netherlands.
Mol Psychiatry ; 24(11): 1748-1768, 2019 11.
Article en En | MEDLINE | ID: mdl-29728705
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Ubiquitina-Proteína Ligasas Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged / Newborn Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidad Intelectual Ligada al Cromosoma X / Ubiquitina-Proteína Ligasas Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Middle aged / Newborn Idioma: En Año: 2019 Tipo del documento: Article