Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes (2008)
Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, ...
Background: Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). High-resolution analysis showed that in three patients both...
Characterization of a recurrent 15q24 microdeletion syndrome (2007)
Sharp, Andrew J, Selzer, Rebecca R, Veltman, Joris A, Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, ...
We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7-3.9 Mb in size). High resolution analysis showed that in three patients both...