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Select item 37783441.

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Tobias Laurell, Johanna Lundin, Britt-Marie Anderlid, Jerome L Gorski, Giedre Grigelioniene, Samantha J L Knight, Ana C V Krepischi, Agneta Nordenskjöld, Susan M Price, Carla Rosenberg, Peter D Turnpenny, Angela M Vianna-Morgante, Ann Nordgren

Eur J Hum Genet. 2013 Oct; 21(10): 1085–1092. Published online 2013 Jan 30. doi: 10.1038/ejhg.2012.306

PMCID:: PMC3778344

Abstract Article PDF–908K

Select item 28333802.

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld, Ryan N. Traylor, Julie Gastier-Foster, Devon Lamb Thrush, Caroline Astbury, Dennis Bartholomew, Kim L. McBride, Robert E. Pyatt, Kate Shane, Wendy E. Smith, Valerie Banks, William B. Gallentine, Pamela Brock, M. Katharine Rudd, Margaret P. Adam, Julia A. Keene, John A. Phillips, III, Jean P. Pfotenhauer, Gordon C. Gowans, Pawel Stankiewicz, Bassem A. Bejjani, Lisa G. Shaffer

Am J Hum Genet. 2010 Mar 12; 86(3): 454–461. doi: 10.1016/j.ajhg.2010.01.038