Molecular and clinical characterization of Angelman syndrome in Chinese patients-Reference-Cited by-同舟云学术

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Molecular and clinical characterization of Angelman syndrome in Chinese patients

Published:2013-04-23 Issue:3 Volume:85 Page:273-277
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bai J.‐L.¹,Qu Y.‐J.¹,Jin Y.‐W.¹,Wang H.¹,Yang Y.‐L.²,Jiang Y.‐W.²,Yang X.‐Y.³,Zou L.‐P.⁴,Song F.¹

Affiliation:

1. Department of Medical GeneticsCapital Institute of Pediatrics Beijing 100020 China

2. Department of PediatricsPeking University First Hospital Beijing 100034 China

3. Department of Neurology, Beijing Children's HospitalCapital Medical University Beijing 100045 China

4. Department of PediatricsGeneral Hospital of Chinese People's Liberation Army Beijing 100852 China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12155

Reference16 articles.

1. Angelman syndrome 2005: Updated consensus for diagnostic criteria

2. Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals

3. Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome

4. Angelman Syndrome Protein UBE3A Interacts with Primary Microcephaly Protein ASPM, Localizes to Centrosomes and Regulates Chromosome Segregation

5. The spectrum of mutations in UBE3A causing Angelman syndrome

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Emerging concepts involving inhibitory and activating RNA functionalization towards the understanding of microcephaly phenotypes and brain diseases in humans;Frontiers in Cell and Developmental Biology;2023-06-20

2. Impact of Deletion on Angelman Syndrome Phenotype Variability: Phenotype–Genotype Correlation in 97 Patients with Motor Developmental Delay;Journal of Pediatric Genetics;2022-08-16

3. An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome;Genes;2022-08-14

4. Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China;Frontiers in Psychiatry;2022-04-28

5. Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations;Human Molecular Genetics;2021-02-19

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