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10.1515/bjmg-2016-0042 http://scihub22266oqcxt.onion/10.1515/bjmg-2016-0042 C5343337!5343337!28289595     free     free     free Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 209.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Balkan+J+Med+Genet 2016 ; 19 (2): 91-4 Nephropedia Template TP {{tp|p=28289595|t=2016. Case Report of a Novel Mutation of the EYA1 Gene in a Patient with Branchio-oto-renal Syndrome |pdf=|usr=}}{{28289595}} gab.com Text Case Report of a Novel Mutation of the EYA1 Gene in a Patient with Branchio-oto-renal Syndrome JO: Balkan J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=28289595 #FOAvip Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial fistulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 µmol/L; low glomerular filtration rate (GFR) 12 mL/min./ 1.73 m2 and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was confirmed. Daily hemodialysis is continuing until renal transplantation is done. This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial fistula and/ or external ear anomalies or similar findings in other family members. Twit Text FOAVip Case Report of a Novel Mutation of the EYA1 Gene in a Patient with Branchio-oto-renal Syndrome ????Balkan J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=28289595 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28289595 #FOAvip English Wikipedia <ref>{{Cite pmid|28289595}}</ref> Case Report of a Novel Mutation of the EYA1 Gene in a Patient with Branchio-oto-renal Syndrome #MMPMID28289595 Spahiu L; Merovci B; Ismaili Jaha V; Batalli Kėpuska A; Jashari H Balkan J Med Genet 2016[Dec]; 19 (2): 91-4 PMID28289595show ga Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure. Clinical examination on readmission showed a pale, lethargic and edematous child, with auricular deformity, pre-auricular tags and pits as well as bilateral branchial fistulae. Laboratory tests revealed high blood urea nitrogen (BUN) 15.96 mmol/L and serum creatinine 633.0 µmol/L; low glomerular filtration rate (GFR) 12 mL/min./ 1.73 m2 and massive proteinuria 4+. Abdominal ultrasound showed bilateral kidney hypoplasia. A novel mutation of the EYA1 gene was confirmed. Daily hemodialysis is continuing until renal transplantation is done. This case is presented to increase awareness among general practitioners to consider BOR syndrome or other renal abnormalities in patients with branchial fistula and/ or external ear anomalies or similar findings in other family members. äCase Report of a Novel Mutation of the EYA1 Gene in a Patient with Bra(epmc).pdf DeepDyve Pubget Overpricing