19 results for author:"Topaloglu R." in Literature citations
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| Genetic basis of cystinosis in Turkish patients: a single-center experience. Topaloglu R., Vilboux T., Coskun T., Ozaltin F., Tinloy B., Gunay-Aygun M., Bakkaloglu A., Besbas N., van den Heuvel L., Kleta R. et al. Pediatr. Nephrol. 27:115-121(2012) · UniProtKB (1) · Mapped (3) |
| COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Heeringa S.F., Chernin G., Chaki M., Zhou W., Sloan A.J., Ji Z., Xie L.X., Salviati L., Hurd T.W., Vega-Warner V. et al. J. Clin. Invest. 121:2013-2024(2011) · UniProtKB (3) · Mapped (8) |
| Neuroendocrine immune system in familial Mediterranean fever. Topaloglu R., Bilginer Y., Alikasifoglu A., Ozaltin F., Besbas N., Ozen S., Bakkaloglu A. Turk. J. Pediatr. 52:588-593(2010) · Mapped (2) |
| Hereditary C1q deficiency: a new family with C1qA deficiency. Sun-Tan C., Ozgur T.T., Kilinc G., Topaloglu R., Gokoz O., Ersoy-Evans S., Sanal O. Turk. J. Pediatr. 52:184-186(2010) · Mapped (2) |
| MEFV mutations in systemic onset juvenile idiopathic arthritis. Ayaz N.A., Ozen S., Bilginer Y., Erguven M., Taskiran E., Yilmaz E., Besbas N., Topaloglu R., Bakkaloglu A. Rheumatology (Oxford) 48:23-25(2009) · Mapped (6) |
| Eye involvement in children with primary focal segmental glomerulosclerosis. Ozaltin F., Heeringa S., Poyraz C.E., Bilginer Y., Kadayifcilar S., Besbas N., Topaloglu R., Ozen S., Hildebrandt F., Bakkaloglu A. Pediatr. Nephrol. 23:421-427(2008) · Mapped (4) |
| Is the CD14 C159T polymorphism effective in the development of secondary amyloidosis in Familial Mediterranean fever? Keskin O., Yilmaz E., Kutlay S., Bakkaloglu A., Topaloglu R., Arici M., Kalayci O., Ozen S. Rheumatol. Int. 27:691-694(2007) · Mapped (2) |
| Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Tunca M., Akar S., Onen F., Ozdogan H., Kasapcopur O., Yalcinkaya F., Tutar E., Ozen S., Topaloglu R., Yilmaz E. et al. Medicine (Baltimore) 84:1-11(2005) · Mapped (6) |
| Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population. Bakkaloglu A., Duzova A., Ozen S., Balci B., Besbas N., Topaloglu R., Ozaltin F., Yilmaz E. J. Rheumatol. 31:1139-1142(2004) · Mapped (5) |
| Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Aganna E., Hawkins P.N., Ozen S., Pettersson T., Bybee A., McKee S.A., Lachmann H.J., Karenko L., Ranki A., Bakkaloglu A. et al. Genes Immun. 5:289-293(2004) · Mapped (14) |
| Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. Gok F., Ichida K., Topaloglu R. Nephrol. Dial. Transplant. 18:2278-2283(2003) · UniProtKB (1) |
| Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? Ozen S., Bakkaloglu A., Yilmaz E., Duzova A., Balci B., Topaloglu R., Besbas N. J. Rheumatol. 30:2014-2018(2003) · Mapped (6) |
| Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Ruf R., Rensing C., Topaloglu R., Guay-Woodford L., Klein C., Vollmer M., Otto E., Beekmann F., Haller M., Wiedensohler A. et al. Pediatr. Nephrol. 18:105-109(2003) · UniProtKB (1) |
| Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. Stover E.H., Borthwick K.J., Bavalia C., Eady N., Fritz D.M., Rungroj N., Giersch A.B.S., Morton C.C., Axon P.R., Akil I. et al. J. Med. Genet. 39:796-803(2002) · UniProtKB (2) |
| MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. Balci B., Tinaztepe K., Yilmaz E., Gucer S., Ozen S., Topaloglu R., Besbas N., Ozguc M., Bakkaloglu A. Nephrol. Dial. Transplant. 17:1921-1923(2002) · Mapped (6) |
| Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus. Topaloglu R., Akierli C., Bakkaloglu A., Aydintug O., Ozen S., Besbas N., Ozcelik T. Clin. Rheumatol. 20:259-261(2001) · Mapped (21) |
| Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Yilmaz E., Ozen S., Balci B., Duzova A., Topaloglu R., Besbas N., Saatci U., Bakkaloglu A., Ozguc M. Eur. J. Hum. Genet. 9:553-555(2001) · Mapped (6) |
| A candidate gene for familial Mediterranean fever. Bernot A., Clepet C., Dasilva C., Devaud C., Petit J.-L., Caloustian C., Cruaud C., Samson D., Pulcini F., Weissenbach J. et al. Nat. Genet. 17:25-31(1997) · UniProtKB (3) |
| Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. Topaloglu R., Bakkaloglu A., Slingsby J.H., Mihatsch M.J., Pascual M., Norsworthy P., Morley B.J., Saatci U., Schifferli J.A., Walport M.J. Kidney Int. 50:635-642(1996) · Mapped (1) |