Concepedia

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1

Zehra Agha, Zafar Iqbal, Maleeha Azam, Maimoona Siddique, Marjolein H. Willemsen, Tjitske Kleefstra, Christiane Zweier, Nicole de Leeuw, Raheel Qamar, Hans van Bokhoven

Gene · 2014 · 16 citations · 32 references

DOI

Concepts

References

32

Human CtIP promotes DNA end resection

Alessandro A. Sartori, Claudia Lukas, Julia Coates et al. · Nature · 2007 · 1.3K citations · Full text

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A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Mark O’Driscoll, Víctor L. Ruiz‐Pérez, C. Geoffrey Woods et al. · Nature Genetics · 2003 · 778 citations · Full text

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α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis

Markus Missler, Weiqi Zhang, Astrid Rohlmann et al. · Nature · 2003 · 716 citations

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Disruption of the neurexin 1 gene is associated with schizophrenia

Dan Rujescu, Andrés Ingason, Sven Cichon et al. · Human Molecular Genetics · 2008 · 485 citations · Full text

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A Splice Code for trans-Synaptic Cell Adhesion Mediated by Binding of Neuroligin 1 to α- and β-Neurexins

Antony A. Boucard, Alexander A. Chubykin, Davide Comoletti et al. · Neuron · 2005 · 473 citations

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