Phelan–McDermid Syndrome-Reference-Cited by-同舟云学术

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Phelan–McDermid Syndrome

Published:2016 Issue: Volume: Page:347-364
ISSN:
Container-title:Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability
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Author:

Phelan Katy,Boccuto Luigi,Sarasua Sara

Publisher

Elsevier

Reference92 articles.

1. 22q13 deletion syndrome: Phelan-McDermid syndrome;Phelan,2010

2. The 22q13.3 deletion syndrome (Phelan-McDermid syndrome);Phelan;Mol Syndromol,2012

3. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome;Sarasua;Hum Genet,2014

4. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome;Bonaglia;Am J Hum Genet,2001

5. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms;Wilson;J Med Genet,2003

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1. GluA1-Shank3 interaction decreases in response to chronic neuronal depolarization;Neuroscience Letters;2023-07

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