요약정보
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.
- Resource Type
- Academic Journal
- Authors
- Sabbagh Q; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Piard J; University Hospital of Besançon, Department of Clinical Genetics, Besançon, France.; Trouvé C; University Hospital of Besançon, Department of Clinical Genetics, Besançon, France.; Amiel J; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Attié-Bitach T; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Balci T; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Barat-Houari M; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Belonis A; Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, OH; University of Cincinnati College of Medicine, Department of Pediatrics, Cincinnati, OH.; Boute O; University Hospital of Lille, Department of Clinical Genetics, Lille, France.; Brightman DS; Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, OH.; Bruel AL; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France.; Caraffi SG; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, 42123 Reggio Emilia, Italy.; Chatron N; University Hospital of Lyon, Laboratory of Medical Genetics, AURAGEN Platform, Lyon, France.; Collet C; Robert Debré University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Dufour W; University Hospital of Lille, Department of Clinical Genetics, Lille, France.; Edery P; University Hospital of Lyon, Department of Clinical Genetics, Lyon, France.; Fong CT; University of Rochester, Department of Genetics, Rochester, NY.; Fusco C; Azienda USL-IRCCS di Reggio Emilia, Child Neurology and Psychiatry Unit, 42123 Reggio Emilia, Italy.; Gatinois V; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Gouy E; University Hospital of Lyon, Department of Clinical Genetics, Lyon, France.; Guerrot AM; Rouen-Normandie University, University Hospital of Rouen, Department of Genetics, Reference Center for Developmental Disorders, Inserm UMR1245, F-76000 Rouen, France.; Heide S; Pitié-Salpêtrière University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Joshi A; Churchill Hospital, Department of Clinical Genetics, ERN-ITHACA, Oxford, United Kingdom.; Karp N; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Keren B; Pitié-Salpêtrière University Hospital, Laboratory of Molecular Genetics and Cytogenetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Lesieur-Sebellin M; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Levy J; Robert Debré University Hospital, Laboratory of Cytogenetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Lozano C; University Hospital of Montpellier, Department of Immunology, Montpellier, France.; Lyonnet S; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Margot H; University of Bordeaux, University Hospital of Bordeaux, Department of Medical Genetics, MRGM Inserm UMR1211, F-33000 Bordeaux, France.; Marzin P; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Michaud V; University of Bordeaux, University Hospital of Bordeaux, Department of Medical Genetics, MRGM Inserm UMR1211, F-33000 Bordeaux, France.; Nicolas G; Rouen-Normandie University, University Hospital of Rouen, Department of Genetics, Reference Center for Developmental Disorders, Inserm UMR1245, F-76000 Rouen, France.; Nizard M; Necker-Enfants Malades University Hospital, Department of Pediatric Endocrinology, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Paulet A; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Peluso F; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, 42123 Reggio Emilia, Italy.; Pernin V; University of Montpellier, Department of Nephrology, Montpellier, France.; Perrin L; Robert Debré University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Philippe C; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France; Hospital of Metz-Thionville, Mercy Hospital, Laboratory of Genetics, Metz, France.; Prasad C; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Prasad M; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Rio M; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Rondeau S; Paris Cité University, Necker-Enfants Malades University Hospital, Department of Genomic Medicine of Rare Diseases, Imagine Institute, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Ruault V; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Ruiz-Pallares N; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Sanchez E; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Shears D; Churchill Hospital, Department of Clinical Genetics, ERN-ITHACA, Oxford, United Kingdom.; Siu VM; University of Western Ontario, London Health Sciences Centre, Department of Pediatrics, London, Ontario, Canada.; Sorlin A; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France.; Tedder M; Greenwood Genetic Centre, Greenwod, SC.; Tharreau M; University Hospital of Montpellier, Department of Molecular Genetics and Cytogenomics, Montpellier, France.; Mau-Them FT; University Hospital of Dijon, Laboratory of Molecular Genetics and Cytogenetics, Inserm UMR 1231 GAD, Dijon, France.; van der Laan L; University of Amsterdam, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, AUMC Department of Human Genetics, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Van Gils J; University of Bordeaux, University Hospital of Bordeaux, Department of Medical Genetics, MRGM Inserm UMR1211, F-33000 Bordeaux, France.; Verloes A; Robert Debré University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Whalen S; Pitié-Salpêtrière University Hospital, Department of Clinical Genetics, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Willems M; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Yauy K; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France.; Zuntini R; Azienda USL-IRCCS di Reggio Emilia, Medical Genetics Unit, 42123 Reggio Emilia, Italy.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, Londo, ON N6A 5W9, Canada.; Geneviève D; Montpellier University, Inserm UMR1183, Centre de Référence « Anomalies du Développement et Syndromes Malformatifs », ERN-ITHACA, Department of Clinical Genetics, University Hospital of Montpellier, Montpellier, France. Electronic address: d-genevieve@chu-montpellier.fr.
- Source
- Publisher:
Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN:10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE - Subject
- Language
- English