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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C; Pöschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M; Münch, Johannes; Heyne, Henrike; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noé, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J; Neatu, Ruxandra; Le Guyader, Gwenael; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; Fourgeaud, Melanie; Michaud, Vincent; Lacombe, Didier; Paolucci, Sarah A; Buchan, Jillian G; Glissmeyer, Margaret; Popp, Bernt; Blüher, Matthias; Sayer, John A; Halbritter, Jan.
Afiliación
  • Schönauer R; Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany; Division of Nephrology, Endocrinology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.
  • Jin W; Division of Nephrology, Endocrinology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.
  • Findeisen C; Division of Nephrology, Endocrinology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany.
  • Valenzuela I; Medical Genetics, Vall d'Hebron, Barcelona, Spain.
  • Devlin LA; Translational and Clinical Research Institute, Newcastle University, Central Parkway, NE1 3BZ Newcastle, UK.
  • Murrell J; Division of Genomic Diagnostics at Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pöschla L; Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Hantmann E; Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, School of Medicine, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University Munich, School of Medicine, Munich, Germany.
  • Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, School of Medicine, Munich, Germany.
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Biemann R; Institute of Laboratory Medicine, Clinical Chemistry and Molecular Diagnostics, University Hospital Leipzig, Leipzig, Germany.
  • Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.
  • Münch J; Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Heyne H; Hasso-Plattner-Institute, University of Potsdam, Potsdam, Germany; Hasso Plattner Institute for Digital Health at Mount Sinai School of Medicine, New York City, NY, USA; Institute for Molecular Medicine Finland: FIMM, University of Helsinki, Helsinki, Finland.
  • Hoffmann A; Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at the University of Leipzig and University Hospital Leipzig, Leipzig, Germany.
  • Ghosh A; Institute of Food, Nutrition and Health, ETH Zurich, Schwerzenbach, Switzerland.
  • Sun W; Institute of Food, Nutrition and Health, ETH Zurich, Schwerzenbach, Switzerland.
  • Dong H; Institute of Food, Nutrition and Health, ETH Zurich, Schwerzenbach, Switzerland.
  • Noé F; Institute of Food, Nutrition and Health, ETH Zurich, Schwerzenbach, Switzerland.
  • Wolfrum C; Institute of Food, Nutrition and Health, ETH Zurich, Schwerzenbach, Switzerland.
  • Woods E; Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Parker MJ; Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Neatu R; Translational and Clinical Research Institute, Newcastle University, Central Parkway, NE1 3BZ Newcastle, UK.
  • Le Guyader G; Unité neurovasculaire et troubles cognitifs, University of Poitiers, Poitiers, France.
  • Bruel AL; Equipe GAD, UMR1231 Inserm, Université de Bourgogne Franche Comté, Dijon, France.
  • Perrin L; UF de Génétique Clinique Département de Génétique, CHU Paris - Hôpital Robert Debré, Paris, France.
  • Spiewak H; North East and Yorkshire Genomic Laboratory Hub, Central Laboratory, St. James's University Hospital, Leeds, UK.
  • Missotte I; Service de Pédiatrie, Centre Hospitalier Territorial, Nouvelle Calédonie, France.
  • Fourgeaud M; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, CHU de Bordeaux, France.
  • Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, CHU de Bordeaux, France; INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), Université de Bordeaux, Bordeaux, France.
  • Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, CHU de Bordeaux, France; INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), Université de Bordeaux, Bordeaux, France.
  • Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
  • Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
  • Glissmeyer M; Seattle Children ́s Hospital, Seattle, WA, USA.
  • Popp B; Berlin Institute of Health at Charité, Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany.
  • Blüher M; Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München at the University of Leipzig and University Hospital Leipzig, Leipzig, Germany.
  • Sayer JA; Translational and Clinical Research Institute, Newcastle University, Central Parkway, NE1 3BZ Newcastle, UK; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Freeman Road, NE7 7DN Newcastle, UK; NIHR Newcastle Biomedical Research Centre, NE4 5PL Newcastle, UK.
  • Halbritter J; Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin, Berlin, Germany; Division of Nephrology, Endocrinology, Rheumatology, University of Leipzig Medical Center, Leipzig, Germany. Electronic address: jan.halbritter@charite.de.
Am J Hum Genet ; 110(6): 998-1007, 2023 06 01.
Article en En | MEDLINE | ID: mdl-37207645
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista Tipo de estudio: Prognostic_studies Límite: Adolescent / Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Alemania
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Prader-Willi / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista Tipo de estudio: Prognostic_studies Límite: Adolescent / Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Alemania