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Background Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian population. Methods Genome wide genotyping were performed in 559 cases and 1772 controls (Group 1) using Illumina HumanHap550 v1, HumanHap550...
Background Several recent reports have demonstrated that the preoperative sensitivity and accuracy of identifying and locating non-palpable testes increases with the use of conventional MRI, in addition to diffusion-weighted imaging (DWI). Therefore, pre-operative prediction of the presence and location of testes using imaging techniques may guide management of intra-abdominal testis. Fowler-Stephens...
Background Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism...
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