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10.1590/1414-431X20176560 http://scihub22266oqcxt.onion/10.1590/1414-431X20176560 C5912098!5912098 !29513881     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 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\29513881 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Braz+J+Med+Biol+Res 2018 ; 51 (3 ): e6560 Nephropedia Template TP {{tp|p=29513881 |t=2018. Identification of a novel UMOD mutation (c 163G A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease |pdf=|usr=}}{{29513881 }} gab.com Text Identification of a novel UMOD mutation (c 163G A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease JO: Braz J Med Biol Res http://www.kidney.de/pget.php?&tw=1&pmid=29513881 #FOAvip Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC?AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause. Twit Text FOAVip Identification of a novel UMOD mutation (c 163G A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease ????Braz J Med Biol Res http://www.kidney.de/pget.php?&tw=1&pmid=29513881 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29513881 #FOAvip English Wikipedia <ref>{{Cite pmid|29513881 }}</ref> Identification of a novel UMOD mutation (c 163G A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease #MMPMID29513881 Lopes LB ; Abreu CC ; Souza CF ; Guimaraes LER ; Silva AA ; Aguiar-Alves F ; Kidd KO ; Kmoch S ; Bleyer AJ ; Almeida JR Braz J Med Biol Res 2018[Mar]; 51 (3 ): e6560 PMID29513881 show ga Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC?AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger individuals affected with the mutation were also identified. Clinical characteristics included a bland urinary sediment in all tested individuals and a kidney biopsy in one individual showing tubulointerstitial fibrosis. Unlike most other reported families with ADTKD-UMOD, neither gout nor hyperuricemia was found in affected individuals. In summary, we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause. |Biopsy [MESH] |Female [MESH] |Genotype [MESH] |Humans [MESH] |Middle Aged [MESH] |Mutation/*genetics [MESH] |Pedigree [MESH] |Polycystic Kidney, Autosomal Dominant/*genetics/pathology [MESH]Identification of a novel UMOD mutation (c 163G A) in a Brazilian fami(epmc).pdf DeepDyve Pubget Overpricing