Browsing by Author "Flinter, F."

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    • 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  

      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 ...