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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397-1405, 2006 | 661 | 2006 |
Nephrotic Syndrome in the First Year of Life: Two Thirds of Cases Are Caused by Mutations in 4 Genes (NPHS1, NPHS2, WT1, and LAMB2) BG Hinkes, B Mucha, CN Vlangos, R Gbadegesin, J Liu, K Hasselbacher, ... Pediatrics 119 (4), e907-e919, 2007 | 582 | 2007 |
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 | 440 | 2011 |
Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort A Trautmann, M Bodria, F Ozaltin, A Gheisari, A Melk, M Azocar, A Anarat, ... Clinical Journal of the American Society of Nephrology 10 (4), 592-600, 2015 | 331 | 2015 |
MYO1E mutations and childhood familial focal segmental glomerulosclerosis C Mele, P Iatropoulos, R Donadelli, A Calabria, R Maranta, P Cassis, ... New England Journal of Medicine 365 (4), 295-306, 2011 | 294 | 2011 |
Circulating suPAR in two cohorts of primary FSGS C Wei, H Trachtman, J Li, C Dong, AL Friedman, JJ Gassman, ... Journal of the American Society of Nephrology 23 (12), 2051-2059, 2012 | 285 | 2012 |
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders K Hasselbacher, RC Wiggins, V Matejas, BG Hinkes, B Mucha, ... Kidney international 70 (6), 1008-1012, 2006 | 234 | 2006 |
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome JK Warejko, W Tan, A Daga, D Schapiro, JA Lawson, S Shril, S Lovric, ... Clinical Journal of the American Society of Nephrology 13 (1), 53-62, 2018 | 225 | 2018 |
Long-term outcome of steroid-resistant nephrotic syndrome in children A Trautmann, S Schnaidt, BS Lipska-Ziętkiewicz, M Bodria, F Ozaltin, ... Journal of the American Society of Nephrology 28 (10), 3055-3065, 2017 | 214 | 2017 |
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 | 213 | 2003 |
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 | 195 | 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 | 187 | 2005 |
Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome RG Ruf, M Schultheiss, A Lichtenberger, SM Karle, I Zalewski, B Mucha, ... Kidney international 66 (2), 564-570, 2004 | 187 | 2004 |
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome DA Braun, CE Sadowski, S Kohl, S Lovric, SA Astrinidis, WL Pabst, ... Nature genetics 48 (4), 457-465, 2016 | 185 | 2016 |
Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS) R Gbadegesin, BG Hinkes, BE Hoskins, CN Vlangos, SF Heeringa, J Liu, ... Nephrology dialysis transplantation 23 (4), 1291-1297, 2008 | 185 | 2008 |
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome B Hinkes, C Vlangos, S Heeringa, B Mucha, R Gbadegesin, J Liu, ... Journal of the American Society of Nephrology 19 (2), 365-371, 2008 | 182 | 2008 |
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 | 173 | 2013 |
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9 B Mucha, F Ozaltin, BG Hinkes, K Hasselbacher, RG Ruf, M Schultheiss, ... Pediatric research 59 (2), 325-331, 2006 | 169 | 2006 |
Childhood vasculitides in Turkey: a nationwide survey Turkish Pediatric Vasculitis Study Group, S Ozen, A Bakkaloglu, ... Clinical rheumatology 26, 196-200, 2007 | 167 | 2007 |