A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Author

ZUFFEREY, Flore¹ ; SHERR, Elliott H² ; AYLWARD, Elizabeth⁸ ; BARKER, Mandy⁹ ; BERNIER, Raphael¹⁰ ; BOUQUILLON, Sonia⁷ ; CONUS, Philippe⁶ ; DELOBEL, Bruno¹¹ ; ANDREW FAUCETT, W¹² ; GOIN-KOCHEL, Robin P¹³ ; GRANT, Ellen¹⁴ ; HAREWOOD, Louise¹⁵ ; BECKMANN, Noam D¹ ; HUNTER, Jill V¹⁶ ; LEBON, Sébastien¹⁷ ; LEDBETTER, David H¹² ; LESE MARTIN, Christa¹⁸ ; MÄNNIK, Katrin¹⁵ ; MARTINET, Danielle¹ ; MUKHERJEE, Pratik¹⁹ ; RAMOCKI, Melissa B²⁰ ; SPENCE, Sarah J²¹ ; STEINMAN, Kyle J²² ; HANSON, Ellen³ ; TJERNAGEL, Jennifer²³ ; SPIRO, John E²³ ; REYMOND, Alexandre¹⁵ ; BECKMANN, Jacques S¹⁴ ; CHUNG, Wendy K²⁴ ; JACQUEMONT, Sébastien¹ ; MAILLARD, Anne M¹ ; HIPPOLYTE, Loyse¹ ; MACE, Aurélien^{4 5} ; FERRARI, Carina⁶ ; KUTALIK, Zoltán^{4 5} ; ANDRIEUX, Joris⁷
[1] Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
[2] Department of Neurology, University of California, San Francisco, California, United States
[3] Department of Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States
[4] Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
[5] Swiss Institute of Bioinformatics, University of Lausanne, Lausanne, Switzerland
[6] Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
[7] Institut de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France
[8] Center for Integrative Brain Research, Children's Research Institute, Seattle, Washington, United States
[9] Department of Child Psychiatry, SUPEA, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
[10] Department of Psychiatry and Behavioral Science, University of Washington, Seattle, Washington, United States
[11] GHICL, Centre de Génétique Chromosomique, Hôpital Saint-Vincent de Paul, Lille, France
[12] Genomic Medicine Institute, Geisinger Clinic, Danville, Pennsylvania, United States
[13] Department of Pediatrics, Psychology Section, Baylor College of Medicine, Houston, Texas, United States
[14] Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States
[15] Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
[16] Department of Radiology, Baylor College of Medicine, Houston, Texas, United States
[17] Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
[18] Department of Human Genetics, Emory University, Atlanta, Georgia, United States
[19] Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California, United States
[20] Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, United States
[21] Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States
[22] Department of Neurology, Seattle Children's Research Institute & University of Washington, Seattle, Washington, United States
[23] Simons Foundation, New York, New York, United States
[24] Departments of Pediatrics and Medicine, Columbia University, New York, New York, United States
Simons VIP Consortium, on behalf of the 16p11.2 European Consortium

Source

Journal of medical genetics. 2012, Vol 49, Num 10, pp 660-668, 9 p ; ref : 49 ref

CODEN

JMDGAE

ISSN

0022-2593

Scientific domain

Genetics

Publisher

BMJ Publishing Group, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Délétion Génétique Aberration chromosomique

Keyword (en)

Deletion Genetics Chromosomal aberration

Keyword (es)

Deleción Genética Aberración cromosómica

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

26496294

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS