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10.1055/s-0035-1557113 http://scihub22266oqcxt.onion/10.1055/s-0035-1557113 C4918707!4918707!27617144     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 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Pediatr+Genet 2016 ; 5 (1): 69-75 Nephropedia Template TP {{tp|p=27617144|t=2016. Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology |pdf=|usr=}}{{27617144}} gab.com Text Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology JO: J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27617144 #FOAvip The discovery of genetic variation associated with pediatric kidney disease has shed light on the biology underlying these conditions and, in some cases, has improved our clinical management of patients. We are challenged to continue the momentum of the genomic era in pediatric nephrology by identifying novel disease-associated genetic variation and translating these discoveries into clinical applications. This article reviews the diverse forms of genetic architecture that have been found to be associated with kidney diseases and traits. These include rare, fully penetrant variants responsible for Mendelian forms of disease, copy number variants, and more common variants associated with increased risk of disease. These discoveries have provided us with a greater understanding of the molecular mechanisms underlying these conditions and highlighted key pathways for potential intervention. In a number of areas, the identification of rare, fully penetrant variants is immediately clinically relevant, whether in regard to diagnostic testing, prediction of outcomes, or choice of therapies and interventions. This article discusses limitations in the deterministic view of rare, putatively causal mutations, a challenge increasing in importance as sequencing expands to many more genes and patients. This article also focusses on common genetic variants, using those found to be associated with focal segmental glomerulosclerosis in African-Americans, IgA nephropathy, chronic kidney disease (CKD), and estimated glomerular filtration rate (eGFR) as examples. Identifying common genetic variants associated with disease will complement other areas of genomic inquiry, lead to a greater biological understanding of disease, and will benefit pediatric nephrology patients. Twit Text FOAVip Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology ????J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27617144 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27617144 #FOAvip English Wikipedia <ref>{{Cite pmid|27617144}}</ref> Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology #MMPMID27617144 Sampson MG J Pediatr Genet 2016[Mar]; 5 (1): 69-75 PMID27617144show ga The discovery of genetic variation associated with pediatric kidney disease has shed light on the biology underlying these conditions and, in some cases, has improved our clinical management of patients. We are challenged to continue the momentum of the genomic era in pediatric nephrology by identifying novel disease-associated genetic variation and translating these discoveries into clinical applications. This article reviews the diverse forms of genetic architecture that have been found to be associated with kidney diseases and traits. These include rare, fully penetrant variants responsible for Mendelian forms of disease, copy number variants, and more common variants associated with increased risk of disease. These discoveries have provided us with a greater understanding of the molecular mechanisms underlying these conditions and highlighted key pathways for potential intervention. In a number of areas, the identification of rare, fully penetrant variants is immediately clinically relevant, whether in regard to diagnostic testing, prediction of outcomes, or choice of therapies and interventions. This article discusses limitations in the deterministic view of rare, putatively causal mutations, a challenge increasing in importance as sequencing expands to many more genes and patients. This article also focusses on common genetic variants, using those found to be associated with focal segmental glomerulosclerosis in African-Americans, IgA nephropathy, chronic kidney disease (CKD), and estimated glomerular filtration rate (eGFR) as examples. Identifying common genetic variants associated with disease will complement other areas of genomic inquiry, lead to a greater biological understanding of disease, and will benefit pediatric nephrology patients. äActualizing the Benefits of Genomic Discovery in Pediatric Nephrology (epmc).pdf DeepDyve Pubget Overpricing