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Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Breckpot, Jeroen; Vercruyssen, Marieke; Weyts, Eddy; Vandevoort, Sean; D'Haenens, Greet; Van Buggenhout, Griet; Leempoels, Lore; Brischoux-Boucher, Elise; Van Maldergem, Lionel; Renieri, Alessandra; Mencarelli, Maria Antonietta; D'Angelo, Carla; Mericq, Veronica; Hoffer, Mariette J; Tauber, Maithé; Molinas, Catherine; Castiglioni, Claudia; Brison, Nathalie; Vermeesch, Joris R; Danckaerts, Marina; Sienaert, Pascal; Devriendt, Koenraad; Vogels, Annick.
Affiliation
  • Breckpot J; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium.
  • Vercruyssen M; University Psychiatric Center KU Leuven, Catholic University of Leuven, Belgium.
  • Weyts E; St-Camillus Psychiatric Hospital, Bierbeek, Belgium.
  • Vandevoort S; St-Camillus Psychiatric Hospital, Bierbeek, Belgium.
  • D'Haenens G; St-Camillus Psychiatric Hospital, Bierbeek, Belgium.
  • Van Buggenhout G; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium.
  • Leempoels L; University Psychiatric Center KU Leuven, Catholic University of Leuven, Belgium.
  • Brischoux-Boucher E; Center for Human Genetics, Franche-Comté University, Besançon, France.
  • Van Maldergem L; Center for Human Genetics, Franche-Comté University, Besançon, France.
  • Renieri A; Medical Genetics, University of Siena, Policlinico Le Scotte, Siena, Italy; Medical Genetics, Azienda University Hospital, Siena, Italy.
  • Mencarelli MA; Medical Genetics, Azienda University Hospital, Siena, Italy.
  • D'Angelo C; Human Genome and Stem Cell Center, University of Sao Paulo, Sao Paulo, Brazil.
  • Mericq V; Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago, Chile.
  • Hoffer MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Tauber M; Endocrinology Unit, Children's Hospital, CHU Toulouse, Reference Center for Prader-Willi Syndrome, INSERM UMR 1043, Paul Sabatier University, Toulouse, France.
  • Molinas C; Endocrinology Unit, Children's Hospital, CHU Toulouse, Reference Center for Prader-Willi Syndrome, INSERM UMR 1043, Paul Sabatier University, Toulouse, France. Electronic address: molinas.c@chu-toulouse.fr.
  • Castiglioni C; Unit of Neurology, Department of Pediatric Neurology, Clínica las Condes, Santiago, Chile.
  • Brison N; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium.
  • Vermeesch JR; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium.
  • Danckaerts M; University Psychiatric Center KU Leuven, Catholic University of Leuven, Belgium.
  • Sienaert P; University Psychiatric Center KU Leuven, Catholic University of Leuven, Belgium.
  • Devriendt K; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium.
  • Vogels A; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium. Electronic address: annick.vogels@uzleuven.be.
Eur J Med Genet ; 59(9): 436-43, 2016 Sep.
Article in En | MEDLINE | ID: mdl-27519580

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Catatonia / DNA Copy Number Variations / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Belgium Country of publication: Netherlands

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Catatonia / DNA Copy Number Variations / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Belgium Country of publication: Netherlands