Clinical and genetic aspects of Angelman syndrome

17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype

(2010) F.H. Sharkey et al.   CYTOGENETIC AND GENOME RESEARCH

Angelman's Syndrome in the First Year of Life

(2010) Andrea Lierde et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

‘Puppet’ Children A Report on Three Cases

(2010) Harry Angelman   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

E6AP promotes the degradation of the PML tumor suppressor

(2009) I Louria-Hayon et al.   CELL DEATH AND DIFFERENTIATION

Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options

(2009) Ronald L. Thibert et al.   EPILEPSIA

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

(2009) Bregje WM van Bon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Angelman syndrome (AS, MIM 105830)

(2009) Griet Van Buggenhout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abnormal myelination in Angelman syndrome

(2009) Manuel Castro-Gago et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation

(2009) Tetsu Shimoji et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Ube3a is required for experience-dependent maturation of the neocortex

(2009) Koji Yashiro et al.   NATURE NEUROSCIENCE

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

(2008) Cyril Gitiaux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abnormal myelination in Angelman syndrome

(2008) Inga Harting et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches

(2008) Y. Lu et al.   HUMAN MOLECULAR GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Epilepsy in Angelman syndrome

(2007) Karine Pelc et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY