Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors within these regions have not been systematically evaluated. We established a consortium of clinical diagnostic and research laboratories to ac...

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Veröffentlicht in:	American journal of human genetics 2011-10, Vol.89 (4), p.551-563
Hauptverfasser:	Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Adult and adolescent clinical studies Autism Binding sites Biological and medical sciences Breakpoints Case-Control Studies Child Child Development Disorders, Pervasive - genetics Child, Preschool Chromatin remodeling Chromosome translocations Chromosomes Chromosomes, Human, Pair 2 Coding CpG Islands DNA-Binding Proteins - genetics Epigenesis, Genetic epigenetics Epilepsy Epilepsy - genetics Etiology Female Fundamental and applied biological sciences. Psychology Gene Deletion Gene expression General aspects. Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution haploinsufficiency Humans Intellectual deficiency Intellectual Disability - genetics Male Medical genetics medical records Medical sciences Mental retardation Molecular and cellular biology Neurodegeneration Neurodevelopmental disorders Phenotype Proteins Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Syndrome
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