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OBJECTIVES: Many patients present with bilateral stones. There is a unique group of patients, however, that presents with stones exclusively on one side. We hypothesize that in such situations, 24-hour urine collections may not reveal specific defects on the affected stone-bearing kidney. We therefore evaluated selective 12-hour urine collections after percutaneous nephrolithotomy to help determine if there is differential renal excretion. METHODS: We collected urine specimens from patients with…Read more
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7Recurrent microdeletions and microduplications of a 600-kb genomic region of chromosome 16p11.2 have been implicated in childhood-onset developmental disorders. We report the association of 16p11.2 microduplications with schizophrenia in two large cohorts. The microduplication was detected in 12/1,906 cases and 1/3,971 controls from the initial cohort, and in 9/2,645 cases and 1/2,420 controls of the replication cohort. The 16p11.2 microduplication was associated with a 14.5-fold increased risk …Read more
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