标题
Clinical and genetic aspects of Angelman syndrome
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 12, Issue 7, Pages 385-395
出版商
Springer Nature
发表日期
2010-05-05
DOI
10.1097/gim.0b013e3181def138
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 17q21.31 Microdeletion Syndrome: Further Expanding the Clinical Phenotype
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- Angelman's Syndrome in the First Year of Life
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- ‘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
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- 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
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