Browsing by Author "Torra, R."

Now showing items 1-5 of 5

    • Article  

      Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: Report from the 2015 International Workshop on Alport Syndrome 

      Gross, O.; Kashtan, C. E.; Rheault, M. N.; Flinter, F.; Savige, J.; Miner, J. H.; Torra, R.; Ars, E.; Constantinou-Deltas, Constantinos D.; Savva, Isavella; Perin, L.; Renieri, A.; Ariani, F.; Mari, F.; Baigent, C.; Judge, P.; Knebelman, B.; Heidet, L.; Lagas, S.; Blatt, D.; Ding, J.; Zhang, Y.; Gale, D. P.; Prunotto, M.; Xue, Y.; Schachter, A. D.; Morton, L. C. G.; Blem, J.; Huang, M.; Liu, S.; Vallee, S.; Renault, D.; Schifter, J.; Skelding, J.; Gear, S.; Friede, T.; Turner, A. N.; Lennon, R. (2017)
      Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding ...
    • Article  

      Analysis of published PKD1 gene sequence variants [3] 

      Gout, A. M.; Ravine, D.; Harris, Peter C.; Rossetti, S.; Peters, D.; Breuning, M.; Henske, E. P.; Koizumi, A.; Inoue, S.; Shimizu, Y.; Thongnoppakhun, W.; Yenchitsomanus, P. -T; Constantinou-Deltas, Constantinos D.; Sandford, R.; Torra, R.; Turco, A. E.; Jeffery, S.; Fontes, M.; Somlo, Stefan; Furu, L. M.; Smulders, Y. M.; Mercier, B.; Ferec, C.; Burtey, S.; Pei, Y.; Kalaydjieva, L.; Bogdanova, N.; McCluskey, M.; Geon, L. J.; Wouters, C. H.; Reiterova, J.; Stekrová, J.; San Millan, J. L.; Aguiari, G.; Senno, L. D. (2007)
    • Article  

      DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome 

      Savige, J.; Ars, E.; Cotton, R. G. H.; Crockett, D.; Dagher, H.; Constantinou-Deltas, Constantinos D.; Ding, J.; Flinter, F.; Pont-Kingdon, G.; Smaoui, N.; Torra, R.; Storey, H. (2014)
      X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...
    • Article  

      Genetic variation of DKK3 may modify renal disease severity in ADPKD 

      Liu, M.; Shi, S.; Senthilnathan, S.; Yu, J.; Wu, E.; Bergmann, C.; Zerres, K.; Bogdanova, N.; Coto, E.; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Demetriou, Kyproula; Devuyst, O.; Gitomer, B.; Laakso, M.; Lumiaho, A.; Lamnissou, Klea; Magistroni, R.; Parfrey, P.; Breuning, M.; Peters, D. J. M.; Torra, R.; Winearls, C. G.; Torres, V. E.; Harris, Peter C.; Paterson, A. D.; Pei, Y. (2010)
      Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations ...
    • Article  

      Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease 

      Magistroni, R.; He, N.; Wang, K.; Andrew, R.; Johnson, A.; Gabow, P.; Dicks, E.; Parfrey, P.; Torra, R.; San-Millan, J. L.; Coto, E.; Van Dijk, M.; Breuning, M.; Peters, D.; Bogdanova, N.; Ligabue, G.; Albertazzi, A.; Hateboer, N.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; St. George-Hyslop, P.; Ravine, D.; Pei, Y. (2003)
      Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to ...