Elucidating how complex regulatory networks have assembled during evolution requires a detailed understanding of the evolutionary dynamics that follow gene duplication events, including changes in ...

Our study identified a novel de novo frameshift mutation in exon 2 of the SALL4 gene. This mutation is associated with unilateral renal agenesis and duplication of renal pelvis, providing valuable ...

This technique may be used to identify the presence of small inversions within regions presenting a copy number gain as detected by chromosome microarray. Distinguishing small inverted duplications ...