Concepedia

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Christelle M. Durand, Catalina Betancur, Tobias M. Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Råstam, I. Carina Gillberg, Henrik Anckarsäter,

Nature Genetics · 2006 · 1.6K citations · 10 references

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10

A forkhead-domain gene is mutated in a severe speech and language disorder

Cecilia Lai, Simon E. Fisher, Jane A. Hurst et al. · Nature · 2001 · 2.1K citations · Full text

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Stéphane Jamain, Hélène Quach, Catalina Betancur et al. · Nature Genetics · 2003 · 1.8K citations · Full text

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Shank, a Novel Family of Postsynaptic Density Proteins that Binds to the NMDA Receptor/PSD-95/GKAP Complex and Cortactin

Scott Naisbitt, Eunjoon Kim, Jian Cheng Tu et al. · Neuron · 1999 · 1K citations

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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

Jacob Vorstman, Wouter Staal, Emma van Daalen et al. · Molecular Psychiatry · 2005 · 353 citations

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Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

María Clara Bonaglia, Roberto Giorda, Renato Borgatti et al. · The American Journal of Human Genetics · 2001 · 325 citations · Full text

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