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http://scihub22266oqcxt.onion/ C5852675!5852675!25851290     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Iran+J+Kidney+Dis 2015 ; 9 (2): 119-25 Nephropedia Template TP {{tp|p=25851290|t=2015. Gene mutations analysis in Iranian children with Nephronophthisis: A two-Centre Study |pdf=|usr=}}{{25851290}} gab.com Text Gene mutations analysis in Iranian children with Nephronophthisis: A two-Centre Study JO: Iran J Kidney Dis http://www.kidney.de/pget.php?&tw=1&pmid=25851290 #FOAvip Introduction: Nephronophthisis (NPHP) is the most commonly inherited ciliopathies that leads to end-stage renal disease in children. The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases. This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis. Method: Fifty-seven patients diagnosed with chronic kidney disease or end-stage renal disease were referred to Imam Hossein Children Hospital, in Isfahan, Iran. The gene analysis study was carried on 16 patients and their first-degree relatives (40 DNA samples) suspicious of having nephronophthisis. The NPHP1 deletion analysis was performed for exons 5, 7, and 20 of the NPHP1 gene. Results: The patients? median age was 15 years. The mean and median age of the first presentation was 10.06± 2.59 years and 10.5 years, respectively. A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families. Conclusion: By combining NPHP1 deletion analysis with multiplex-polymerase-chain-reaction based high-throughput mutation analysis we could identify the molecular disease-cause in 7 of 15 families from Iran. In 8 families, the molecular disease cause remained unknown. Twit Text FOAVip Gene mutations analysis in Iranian children with Nephronophthisis: A two-Centre Study ????Iran J Kidney Dis http://www.kidney.de/pget.php?&tw=1&pmid=25851290 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25851290 #FOAvip English Wikipedia <ref>{{Cite pmid|25851290}}</ref> Gene mutations analysis in Iranian children with Nephronophthisis: A two-Centre Study #MMPMID25851290 Gheissari A; Harandavar M; Hildebrandt F; Braun DA; Sedghi M; Parsi N; Merrikhi A; Madihi Y; Aghamohammadi F Iran J Kidney Dis 2015[Mar]; 9 (2): 119-25 PMID25851290show ga Introduction: Nephronophthisis (NPHP) is the most commonly inherited ciliopathies that leads to end-stage renal disease in children. The NPHP1 gene is the first identified gene responsible for nephronophthisis and related diseases. This study assessed mutations of the NPHP1 gene in 16 Iranian families with at least one member presenting features of nephronophthisis. Method: Fifty-seven patients diagnosed with chronic kidney disease or end-stage renal disease were referred to Imam Hossein Children Hospital, in Isfahan, Iran. The gene analysis study was carried on 16 patients and their first-degree relatives (40 DNA samples) suspicious of having nephronophthisis. The NPHP1 deletion analysis was performed for exons 5, 7, and 20 of the NPHP1 gene. Results: The patients? median age was 15 years. The mean and median age of the first presentation was 10.06± 2.59 years and 10.5 years, respectively. A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families. Conclusion: By combining NPHP1 deletion analysis with multiplex-polymerase-chain-reaction based high-throughput mutation analysis we could identify the molecular disease-cause in 7 of 15 families from Iran. In 8 families, the molecular disease cause remained unknown. äGene mutations analysis in Iranian children with Nephronophthisis: A t(epmc).pdf DeepDyve Pubget Overpricing