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10.1097/MOU.0000000000000353 http://scihub22266oqcxt.onion/10.1097/MOU.0000000000000353 C5877806!5877806!27798415     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Curr+Opin+Urol 2017 ; 27 (1): 1-6 Nephropedia Template TP {{tp|p=27798415|t=2017. Recent Findings on the Genetics of Disorders of Sex Development |pdf=|usr=}}{{27798415}} gab.com Text Recent Findings on the Genetics of Disorders of Sex Development JO: Curr Opin Urol http://www.kidney.de/pget.php?&tw=1&pmid=27798415 #FOAvip Purpose of review: Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel genetic sequencing technologies, new phenotypes associated with known DSD genes, and increasing recognition of the role of genetic regulatory elements in DSD. Methods: We performed a comprehensive search of PubMed through August 2016 to identify important peer-reviewed publications from 2015?2016 on the topic of DSD genetics. Summary of Recent Findings: Whole-exome sequencing was used to successfully identify genetic causes of DSD in 35% of a cohort of 46,XY subjects who had not previously received a genetic diagnosis.A novel mutation in NR5A1 has been identified as a cause of 46,XX testicular and ovotesticular DSD, demonstrating a previously unappreciated role of NR5A1 in preventing testicular differentiation in 46,XX individuals.Genetic regulatory elements of SOX9 have been identified as causes of 46,XX and 46,XY DSD. Twit Text FOAVip Recent Findings on the Genetics of Disorders of Sex Development ????Curr Opin Urol http://www.kidney.de/pget.php?&tw=1&pmid=27798415 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27798415 #FOAvip English Wikipedia <ref>{{Cite pmid|27798415}}</ref> Recent Findings on the Genetics of Disorders of Sex Development #MMPMID27798415 Kremen J; Chan YM; Swartz JM Curr Opin Urol 2017[Jan]; 27 (1): 1-6 PMID27798415show ga Purpose of review: Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel genetic sequencing technologies, new phenotypes associated with known DSD genes, and increasing recognition of the role of genetic regulatory elements in DSD. Methods: We performed a comprehensive search of PubMed through August 2016 to identify important peer-reviewed publications from 2015?2016 on the topic of DSD genetics. Summary of Recent Findings: Whole-exome sequencing was used to successfully identify genetic causes of DSD in 35% of a cohort of 46,XY subjects who had not previously received a genetic diagnosis.A novel mutation in NR5A1 has been identified as a cause of 46,XX testicular and ovotesticular DSD, demonstrating a previously unappreciated role of NR5A1 in preventing testicular differentiation in 46,XX individuals.Genetic regulatory elements of SOX9 have been identified as causes of 46,XX and 46,XY DSD. äRecent Findings on the Genetics of Disorders of Sex Development (epmc).pdf DeepDyve Pubget Overpricing