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10.1007/s00467-010-1578-y http://scihub22266oqcxt.onion/10.1007/s00467-010-1578-y 20603712!2937138!20603712     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       Pediatr+Nephrol 2010 ; 25 (11): 2247-55 Nephropedia Template TP {{tp|p=20603712|t=2010. Renal malformations associated with mutations of developmental genes: messages from the clinic |pdf=|usr=}}{{20603712}} gab.com Text Renal malformations associated with mutations of developmental genes: messages from the clinic JO: Pediatr Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=20603712 #FOAvip Renal tract malformations (RTMs) account for about 40% of children with end-stage renal failure. RTMs can be caused by mutations of genes normally active in the developing kidney and lower renal tract. Moreover, some RTMs occur in the context of multi-organ malformation syndromes. For these reasons, and because genetic testing is becoming more widely available, pediatric nephrologists should work closely with clinical geneticists to make genetic diagnoses in children with RTMs, followed by appropriate family counseling. Here we highlight families with renal cysts and diabetes, renal coloboma and Fraser syndromes, and a child with microdeletion of chromosome 19q who had a rare combination of malformations. Such diagnoses provide families with often long-sought answers to the question "why was our child born with kidney disease". Precise genetic diagnoses will also help to define cohorts of children with RTMs for long-term clinical outcome studies. Twit Text FOAVip Renal malformations associated with mutations of developmental genes: messages from the clinic ????Pediatr Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=20603712 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20603712 #FOAvip English Wikipedia <ref>{{Cite pmid|20603712}}</ref> Renal malformations associated with mutations of developmental genes: messages from the clinic #MMPMID20603712 Adalat S; Bockenhauer D; Ledermann SE; Hennekam RC; Woolf AS Pediatr Nephrol 2010[Nov]; 25 (11): 2247-55 PMID20603712show ga Renal tract malformations (RTMs) account for about 40% of children with end-stage renal failure. RTMs can be caused by mutations of genes normally active in the developing kidney and lower renal tract. Moreover, some RTMs occur in the context of multi-organ malformation syndromes. For these reasons, and because genetic testing is becoming more widely available, pediatric nephrologists should work closely with clinical geneticists to make genetic diagnoses in children with RTMs, followed by appropriate family counseling. Here we highlight families with renal cysts and diabetes, renal coloboma and Fraser syndromes, and a child with microdeletion of chromosome 19q who had a rare combination of malformations. Such diagnoses provide families with often long-sought answers to the question "why was our child born with kidney disease". Precise genetic diagnoses will also help to define cohorts of children with RTMs for long-term clinical outcome studies. |*Genes, Developmental[MESH] |*Mutation[MESH] |Child[MESH] |Genome-Wide Association Study[MESH] |Glomerulonephritis, IGA/*genetics[MESH] |Glycosylation[MESH] |Humans[MESH] |Immunoglobulin A/metabolism[MESH] |Kidney/*abnormalities[MESH]Renal malformations associated with mutations of developmental genes: (epmc).pdf DeepDyve Pubget Overpricing