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10.12688/f1000research.11316.1 http://scihub22266oqcxt.onion/10.12688/f1000research.11316.1 C5443337!5443337!28580132     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 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 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       F1000Res 2017 ; 6 (ä): ä Nephropedia Template TP {{tp|p=28580132|t=2017. Case Report: Making a diagnosis of familial renal disease ? clinical and patient perspectives |pdf=|usr=}}{{28580132}} gab.com Text Case Report: Making a diagnosis of familial renal disease clinical and patient perspectives JO: F1000Res http://www.kidney.de/pget.php?&tw=1&pmid=28580132 #FOAvip Background: A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases. Methods: Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing. Results: Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype. The identification of this mutation had important clinical consequences for the family, including allowing a living-unrelated kidney transplant to proceed in the index case. There are also wider ranging social and ethical dilemmas presented when reaching a genetic diagnosis like this one, which are explored here by both physicians and the index case. Conclusions: Through physician and patient perspectives in a family with inherited renal failure we explore the implications and the magnitude of a molecular genetic diagnosis. Twit Text FOAVip Case Report: Making a diagnosis of familial renal disease clinical and patient perspectives ????F1000Res http://www.kidney.de/pget.php?&tw=1&pmid=28580132 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28580132 #FOAvip English Wikipedia <ref>{{Cite pmid|28580132}}</ref> Case Report: Making a diagnosis of familial renal disease ? clinical and patient perspectives #MMPMID28580132 Iqbal Z; Sayer JA F1000Res 2017[]; 6 (ä): ä PMID28580132show ga Background: A precise molecular genetic diagnosis has become the gold standard for the correct identification and management of many inherited renal diseases. Methods: Here we describe a family with familial focal segmental glomerulosclerosis, and include a clinical and patient perspective on the diagnostic workup and relaying of genetic results following whole exome sequencing. Results: Through next generation sequencing approaches, we identified a pathogenic mutation in TRPC6, the underlying cause of the phenotype. The identification of this mutation had important clinical consequences for the family, including allowing a living-unrelated kidney transplant to proceed in the index case. There are also wider ranging social and ethical dilemmas presented when reaching a genetic diagnosis like this one, which are explored here by both physicians and the index case. Conclusions: Through physician and patient perspectives in a family with inherited renal failure we explore the implications and the magnitude of a molecular genetic diagnosis. äCase Report: Making a diagnosis of familial renal disease ? clinical a(epmc).pdf DeepDyve Pubget Overpricing