Angelman Syndrome Natural History Protocol

Angelman syndrome 2005: Updated consensus for diagnostic criteria

C. Williams, A. Beaudet, J. Clayton-Smith, et al.. (2006). American Journal of Medical Genetics Part A. Cited 586 times. https://doi.org/10.1002/ajmg.a.31074

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.

S. Dindot, B. Antalffy, M. Bhattacharjee, et al.. (2007). Human molecular genetics. Cited 391 times. https://doi.org/10.1093/HMG/DDM288

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation

G. V. Woerden, K. D. Harris, M. Hojjati, et al.. (2007). Nature Neuroscience. Cited 279 times. https://doi.org/10.1038/nn1845

Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome

E. Weeber, Yong-hui Jiang, Y. Elgersma, et al.. (2003). The Journal of Neuroscience. Cited 273 times. https://doi.org/10.1523/JNEUROSCI.23-07-02634.2003

Autism in Angelman syndrome: implications for autism research

S. Peters, A. Beaudet, N. Madduri, et al.. (2004). Clinical Genetics. Cited 187 times. https://doi.org/10.1111/j.1399-0004.2004.00362.x

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

J. Gentile, W. Tan, Lucia T. Horowitz, et al.. (2010). Journal of Developmental & Behavioral Pediatrics. Cited 144 times. https://doi.org/10.1097/DBP.0b013e3181ee408e

Angelman syndrome: Mutations influence features in early childhood

W. Tan, C. Bacino, Steven A. Skinner, et al.. (2011). American Journal of Medical Genetics Part A. Cited 124 times. https://doi.org/10.1002/ajmg.a.33775

Cognitive and adaptive behavior profiles of children with Angelman syndrome

S. Peters, J. Goddard-finegold, A. Beaudet, et al.. (2004). American Journal of Medical Genetics Part A. Cited 98 times. https://doi.org/10.1002/ajmg.a.30065

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

T. Sahoo, S. Peters, N. Madduri, et al.. (2005). Journal of Medical Genetics. Cited 95 times. https://doi.org/10.1136/jmg.2005.036913

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

T. Sahoo, C. Bacino, J. German, et al.. (2007). European Journal of Human Genetics. Cited 86 times. https://doi.org/10.1038/sj.ejhg.5201859

Alterations in white matter pathways in Angelman syndrome

S. Peters, W. Kaufmann, C. Bacino, et al.. (2011). Developmental Medicine & Child Neurology. Cited 66 times. https://doi.org/10.1111/j.1469-8749.2010.03838.x

Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.

S. Peters, Lucia T. Horowitz, R. Barbieri-Welge, et al.. (2012). Journal of child psychology and psychiatry, and allied disciplines. Cited 58 times. https://doi.org/10.1111/j.1469-7610.2011.02455.x

A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

L. Bird, W. Tan, C. Bacino, et al.. (2011). American Journal of Medical Genetics Part A. Cited 48 times. https://doi.org/10.1002/ajmg.a.34297

Array‐based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

T. Sahoo, C. Shaw, Andrew S. Young, et al.. (2005). American Journal of Medical Genetics Part A. Cited 45 times. https://doi.org/10.1002/ajmg.a.31000

Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD.

D. Bittel, N. Kibiryeva, Z. Talebizadeh, et al.. (2005). Genomics. Cited 34 times. https://doi.org/10.1016/J.YGENO.2004.10.010

Atypical cases of Angelman syndrome

A. Lawson-Yuen, Bai-Lin Wu, V. Lip, et al.. (2006). American Journal of Medical Genetics Part A. Cited 27 times. https://doi.org/10.1002/ajmg.a.31481