General Nephrology – Renal Genetics

K JAYASINGHE1,2,3, C QUINLAN2,4,5, C SIMONS2,7, S WHITE2,6, A MALLETT4,8 1Department of Nephrology, Monash Health, Melbourne, Australia, 2Murdoch Childrens Research Institute (MCRI), Melbourne, Australia, 3Monash University, Melbourne, Australia, 4KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Australia, 5Department of Paediatric...
  • June 13, 2018
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C LOGEMAN1,2, Y CHO3,4,5, B SAUTENET6, G RANGAN7, T GUTMAN1,2, J CRAIG1,2, A ONG8, A CHAPMAN9, C AHN10, H COOLICAN11, J TZE-WAH KAO12,13, R GANSEVOORT14, R PERRONE15, T HARRIS16, V TORRES17, Y PEI18, P KERR19, J RYAN19,  A VIECELLI3, C...
  • June 13, 2018
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P WU1, A WANG2,3 1Royal North Shore Hospital, Sydney,, Australia, 2The George Institute for Global Health, Sydney,, Australia, 3Faculty of Medicine and Health Sciences, Macquarie University, Sydney,, Australia Background: Renal angiomyolipomas are a common feature of tuberous sclerosis complex (TSC),...
  • June 13, 2018
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K JAYASINGHE1,2,3, Z STARK2,6, AJ MALLETT3,8, C QUINLAN2,3,5, S BEST4 1Monash Health, Melbourne, Australia, 2Murdoch Childrens Research Institute (MCRI), Melbourne, Australia, 3KidGen Renal Genetics Flagship, Australian Genomics Health Alliance, Australia, 4Macquarie University, Sydney, Australia, 5Department of Paediatric Nephrology, Royal Children’s...
  • June 8, 2018
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HJ MCCARTHY1,2,3, AJ MALLETT3,4, G HO3,5, K HOLMAN3,5,  E FARNSWORTH3,5, C PATEL3,6, JT FLETCHER3,7,  A MALLAWAARACHCHI3,8, C QUINLAN3,9, B BENNETTS2,3,5, SI ALEXANDER1,2,3 1Department of Nephrology, Children’s Hospital at Westmead, Westmead, Australia, 2University of Sydney, Sydney, Australia, 3KIDGEN Collaborative Rare Disease...
  • June 7, 2018
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R HUDSON1, C PATEL2,  C HAWLEY3,  S O’SHEA4, P SNELLING5, J CRAWFORD6,  C SIMONS7, AJ MALLETT8 1Department of Renal Medicine, Royal Brisbane And Womens Hospital, Herston, Australia, 2Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, Australia , 3Department of...
  • June 7, 2018
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G BRAILSFORD1, E CASH1,  J BURKE3,  AJ MALLETT4,5,6, G KIRKLAND1,2,  M JOSE1,2 1School Of Medicine, University Of Tasmania, Hobart, Australia, 2Renal Unit, Royal Hobart Hospital, Hobart, Australia, 3Tasmanian Clinical Genetics Service, Hobart, Australia, 4Department of Renal Medicine, RBWH, Herston, Australia,...
  • June 7, 2018
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B NEDANOVSKI1, A TALBOT1, K NICHOLLS1,2 1The Royal Melbourne Hospital Department of Nephrology, Melbourne, Australia, 2The University of Melbourne, Melbourne, Australia Aims: To determine 1. Prevalence and severity of sensory neuropathy in Fabry patients using simple bedside examination 2. Effect...
  • June 7, 2018
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M AL-SHINNAG1,2 1Kidney Health Service, Royal Brisbane And Women’s Hospital , Herston, Australia, 2University of Queensland, Herston, Australia Background: HLRCC is an autosomal dominant disorder caused by FH mutations characterized by skin piloleiomyomas, uterine leiomyomas and RCC. The cumulative risk...
  • June 7, 2018
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M Al-SHINNAG1, H MARFAN2,3, R SUSMAN2,3, J WAKELING3,  S WOOD4,  AJ MALLETT1,2 1Kidney Health Service, Royal Brisbane And Women’s Hospital , Herston, Australia, 2Faculty of Medicine, The University of Queensland, Herston, Australia, 3Genetic Health Queensland, Herston, Australia, 4Department of Urology,...
  • June 7, 2018
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