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10.3390/genes8100256 http://scihub22266oqcxt.onion/10.3390/genes8100256 C5664106!5664106!28981474     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Genes+(Basel) 2017 ; 8 (10): ä Nephropedia Template TP {{tp|p=28981474|t=2017. The Genetic Basis of Pericentral Retinitis Pigmentosa?A Form of Mild Retinitis Pigmentosa |pdf=|usr=}}{{28981474}} gab.com Text The Genetic Basis of Pericentral Retinitis Pigmentosa A Form of Mild Retinitis Pigmentosa JO: Genes (Basel) http://www.kidney.de/pget.php?&tw=1&pmid=28981474 #FOAvip Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral retina first and tends to spare the far periphery. This study was performed to further define the genetic basis of this phenotype. We identified a cohort of 43 probands with pericentral RP based on a comprehensive analysis of their retinal phenotype. Genetic analyses of DNA samples from these patients were performed using panel-based next-generation sequencing, copy number variations, and whole exome sequencing (WES). Mutations provisionally responsible for disease were found in 19 of the 43 families (44%) analyzed. These include mutations in RHO (five patients), USH2A (four patients), and PDE6B (two patients). Of 28 putatively pathogenic alleles, 15 (54%) have been previously identified in patients with more common forms of typical RP, while the remaining 13 mutations (46%) were novel. Burden testing of WES data successfully identified HGSNAT as a cause of pericentral RP in at least two patients, suggesting it is also a relatively common cause of pericentral RP. While additional sequencing might uncover new genes specifically associated with pericentral RP, the current results suggest that genetically pericentral RP is not a separate clinical entity, but rather is part of the spectrum of mild RP phenotypes. Twit Text FOAVip The Genetic Basis of Pericentral Retinitis Pigmentosa A Form of Mild Retinitis Pigmentosa ????Genes (Basel) http://www.kidney.de/pget.php?&tw=1&pmid=28981474 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28981474 #FOAvip English Wikipedia <ref>{{Cite pmid|28981474}}</ref> The Genetic Basis of Pericentral Retinitis Pigmentosa?A Form of Mild Retinitis Pigmentosa #MMPMID28981474 Comander J; Weigel-DiFranco C; Maher M; Place E; Wan A; Harper S; Sandberg MA; Navarro-Gomez D; Pierce EA Genes (Basel) 2017[Oct]; 8 (10): ä PMID28981474show ga Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral retina first and tends to spare the far periphery. This study was performed to further define the genetic basis of this phenotype. We identified a cohort of 43 probands with pericentral RP based on a comprehensive analysis of their retinal phenotype. Genetic analyses of DNA samples from these patients were performed using panel-based next-generation sequencing, copy number variations, and whole exome sequencing (WES). Mutations provisionally responsible for disease were found in 19 of the 43 families (44%) analyzed. These include mutations in RHO (five patients), USH2A (four patients), and PDE6B (two patients). Of 28 putatively pathogenic alleles, 15 (54%) have been previously identified in patients with more common forms of typical RP, while the remaining 13 mutations (46%) were novel. Burden testing of WES data successfully identified HGSNAT as a cause of pericentral RP in at least two patients, suggesting it is also a relatively common cause of pericentral RP. While additional sequencing might uncover new genes specifically associated with pericentral RP, the current results suggest that genetically pericentral RP is not a separate clinical entity, but rather is part of the spectrum of mild RP phenotypes. äThe Genetic Basis of Pericentral Retinitis Pigmentosa?A Form of Mild R(epmc).pdf DeepDyve Pubget Overpricing