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A review of 18p deletions

Published:2015-08-06 Issue:3 Volume:169 Page:251-264
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Hasi-Zogaj Minire,Sebold Courtney,Heard Patricia,Carter Erika,Soileau Bridgette,Hill Annice,Rupert David,Perry Brian,Atkinson Sidney,O'Donnell Louise,Gelfond Jon,Lancaster Jack,Fox Peter T.,Hale Daniel E.,Cody Jannine D.

Funder

The Chromosome 18 Registry and Research Society

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.c.31445/fullpdf

Reference85 articles.

1. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy;Aldinger;Am J Hum Genet,2014

2. 18p- syndrome and hypopituitarism;Artman;J Med Genet,1992

3. Germline deletion of Cetn1 causes infertility in male mice;Avasthi;J Cell Sci,2013

4. Characterization of the proteome, diseases and evolution of the human postsynaptic density;Bayés;Nat Neurosci,2011

5. The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders;Betancur;Trends Neurosci,2009

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