Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study M Tunca, H Ozdogan, O Kasapcopur, F Yalcinkaya, E Tutar, R Topaloglu, ... Medicine (Baltimore) 84 (1), 1-11, 2005 | 1019 | 2005 |
Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population E Yilmaz, S Ozen, B Balcı, A Duzova, R Topaloglu, N Besbas, U Saatci, ... European journal of human genetics 9 (7), 553-555, 2001 | 534 | 2001 |
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness SF Heeringa, G Chernin, M Chaki, W Zhou, AJ Sloan, Z Ji, LX Xie, ... The Journal of clinical investigation 121 (5), 2013-2024, 2011 | 434 | 2011 |
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss EH Stover, KJ Borthwick, C Bavalia, N Eady, DM Fritz, N Rungroj, ... Journal of medical genetics 39 (11), 796-803, 2002 | 364 | 2002 |
The MEST score provides earlier risk prediction in lgA nephropathy SJ Barbour, G Espino-Hernandez, HN Reich, R Coppo, ISD Roberts, ... Kidney international 89 (1), 167-175, 2016 | 271 | 2016 |
Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis Ü Saatçi, S Ozen, S Özdemir, A Bakkaloglu, N Besbas, R Topaloglu, ... European journal of pediatrics 156, 619-623, 1997 | 270 | 1997 |
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease Q Zhou, X Yu, E Demirkaya, N Deuitch, D Stone, WL Tsai, HS Kuehn, ... Proceedings of the National Academy of Sciences 113 (36), 10127-10132, 2016 | 231 | 2016 |
Nephropathic cystinosis: an international consensus document F Emma, G Nesterova, C Langman, A Labbé, S Cherqui, P Goodyer, ... Nephrology Dialysis Transplantation 29 (suppl_4), iv87-iv94, 2014 | 222 | 2014 |
Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever A Duzova, A Bakkaloglu, N Besbas, R Topaloglu, S Ozen, F Ozaltin, ... Clinical and experimental rheumatology 21 (4), 509-514, 2003 | 209 | 2003 |
Demographics of paediatric renal replacement therapy in Europe: a report of the ESPN/ERA–EDTA registry N Chesnaye, M Bonthuis, F Schaefer, JW Groothoff, E Verrina, JG Heaf, ... Pediatric nephrology 29, 2403-2410, 2014 | 198 | 2014 |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 192 | 2017 |
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever R Topaloglu, F Ozaltin, E Yilmaz, S Ozen, B Balci, N Besbas, ... Annals of the rheumatic diseases 64 (5), 750-752, 2005 | 192 | 2005 |
Low Chloride Stimulation of Prostaglandin E2Release and Cyclooxygenase-2 Expression in a Mouse Macula Densa Cell Line T Yang, JM Park, L Arend, Y Huang, R Topaloglu, A Pasumarthy, ... Journal of Biological Chemistry 275 (48), 37922-37929, 2000 | 182 | 2000 |
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN F Ozaltin, B Li, A Rauhauser, SW An, O Soylemezoglu, II Gonul, ... Journal of the American Society of Nephrology 24 (3), 377-384, 2013 | 170 | 2013 |
Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? S Ozen, A Bakkaloglu, E Yilmaz, A Duzova, B Balci, R Topaloglu, ... The Journal of rheumatology 30 (9), 2014-2018, 2003 | 166 | 2003 |
Risk factors in community-acquired urinary tract infections caused by ESBL-producing bacteria in children R Topaloglu, I Er, BG Dogan, Y Bilginer, F Ozaltin, N Besbas, S Ozen, ... Pediatric nephrology 25, 919-925, 2010 | 160 | 2010 |
Dent-2 disease: a mild variant of Lowe syndrome A Bökenkamp, D Böckenhauer, HI Cheong, B Hoppe, V Tasic, R Unwin, ... The Journal of pediatrics 155 (1), 94-99, 2009 | 156 | 2009 |
Chronic kidney disease in children in Turkey K Bek, S Akman, I Bilge, R Topaloğlu, S Çalışkan, H Peru, N Cengiz, ... Pediatric nephrology 24, 797-806, 2009 | 151 | 2009 |
Complement Deficiency and Autoimmunitya MJ Walport, KA Davies, BJ Morley, M Botto Annals of the New York Academy of Sciences 815 (1), 267-281, 1997 | 140 | 1997 |
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis KJ Borthwick, N Kandemir, R Topaloglu, U Kornak, A Bakkaloglu, ... Journal of medical genetics 40 (2), 115-121, 2003 | 136 | 2003 |