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51st ERA-EDTA CONGRESS

 

31 May - 3 June 2014 AMSTERDAM
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Discussion forum - 51st ERA-EDTA CONGRESS
    Topic - D) Genetic diseases and molecular genetics.

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 Thread / Poster  Author  Replies  Last reply
LRP5 GENE LINKAGE DISEQUILIBRIUM AND MINERAL BONE DENSITY IN CHILDREN WITH IDIOPATHIC NEPHROTIC SYNDROME TREATED WITH GLUCOCORTICOSTEROIDS  Magdalena Silska-Dittmar 1      5/20/2014 11:41:00 PM  
ASSOCIATION OF FOCAL AND SEGMENTAL GLOMERULOSCLEROSIS AND CHARCOT-MARIE-TOOTH DISEASE: IDENTIFICATION OF A NEW MUTATION IN INVERTED FORMIN 2-GENE  Laila-Yasmin Mani 1      5/20/2014 11:11:00 PM  
TALES OF THE UNEXPECTED: MONOGENETIC AUTOINFLAMMATORY SYNDROMES AND KIDNEY FAILURE/KIDNEY TRANSPLANTATION  Katharina Hohenstein-Scheibenecker 1      5/20/2014 10:18:00 PM  
DETERMINATION OF THE RENAL THRESHOLD FOR GLUCOSE EXCRETION IN FAMILIAL RENAL GLUCOSURIC PATIENTS  Inés Aires 1      5/20/2014 10:15:00 PM  
HNF1B GENE MUTATIONS IN CHILDREN WITH CLINICAL PHENOTYPE OF POLYCYSTIC KIDNEY DISEASES AND WITH OTHER CYSTS  Michal Malina 1      5/20/2014 9:45:00 PM  
HEREDITARY SPASTIC QUADRIPARESIS ASSOCIATED WITH PROTEINURIC PROGRESSIVE KIDNEY DISEASE  Ahad Abdalla 1      5/20/2014 12:18:00 PM  
NERVE GROWTH FACTOR ENHANCES THE NEPHROTOXIC EFFECTS EXERTED BY CYCLOSPORINE IN TUBULAR RENAL CELLS  Vizza Donatella 1      5/19/2014 5:36:00 PM  
ADIPONECTIN SECRETED BY TUBULAR RENAL CELLS MEDIATES THE CELLULAR INFLAMMATORY DAMAGE LPS-INDUCED  Anna Perri 1      5/19/2014 5:19:00 PM  
UNEXPECTEDLY HIGH PREVALENCE OF RARE GENETIC DISORDERS IN KIDNEY TRANSPLANT RECIPIENTS WITH AN UNKNOWN CAUSAL NEPHROPATHY  Claudio Musetti 1      5/19/2014 5:10:00 PM  
TRANSCRIPTOR FACTORS RESPONSIBLE FOR EPO GENE REGULATION, TRIGGERED BY ADMINISTRATION OF RHUEPO HIGH DOSES  Joo Fernandes 1      5/19/2014 5:06:00 PM  
ANALYSES OF HYPOXIA INDUCIBLE TRANSCRIPTION FACTOR DNA-BINDING AND HYPOXIC GENE REGULATION IN PRIMARY HUMAN RENAL TUBULAR CELLS  Steffen Grampp 1      5/19/2014 3:35:00 PM  
DIAGNOSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE USING EFFICIENT PKD1 AND PKD2 TARGETED NEXT GENERATION SEQUENCING  Roser Torra Balcells 1      5/19/2014 2:21:00 PM  
INDEPENDENT PKD1 AND TSC2 MUTATIONS CAUSE A PHENOTYPE DIFFERENT FROM THE TYPICAL CONTIGUOUS GENE SYNDROME  Roser Torra Balcells 1      5/19/2014 2:14:00 PM  
THE CRUCIAL ROLE OF IRON METABOLISM IN ERYHTROID HYPOPLASIA/PURE RED CELL APLASIA DUE TO THE DEVELOPMENT OF ANTI-EPO ANTIBODIES  Ana Patrícia Amieiro Garrido 1      5/17/2014 12:25:00 PM  
ARE URIC ACIDS SERUM LEVELS CAUSALLY INVOLVED IN THE DEVELOPMENT OF CORONARY ARTERY DISEASE, CARDIOVASCULAR MORTALITY OR SUDDEN CARDIAC DEATH? A GENETIC STUDY USING THE MENDELIAN RANDOMISATION APPROACH  Marcus Kleber 1      5/16/2014 2:53:00 PM  
PURE MICROSCOPIC HEMATURIA, ESPECIALLY FAMILIAL, IN EARLY LIFE, RESULTING FROM HETEROZYGOUS COL4A3/A4 MUTATIONS AND CFHR5 C3 NEPHRITIS, MAY BE RESPONSIBLE FOR MANY CASES OF CHRONIC RENAL FAILURE AND ESKD IN LATER LIFE  ISAVELLA SAVVA 1      5/16/2014 1:15:00 PM  
EGR1 AND EGR2 IN MYOCARDIAL FIBROSIS OF TGF- TRANSGENIC MICE AND THEIR ASSOCIATION WITH TIMP-1  Gabor Kokeny 1      5/16/2014 12:28:00 PM  
URINARY microRNA-21 EXPRESSION IN NEPHROPATHIES  Alexey V. Smirnov 1      5/15/2014 3:34:00 PM  
CHARACTERISTICS OF THE RENAL RENIN ANGIOTEINSIN SYSTEM IN EXPERIMENTAL ALPORTS SYNDROME  EUNHUI BAE 1      5/14/2014 3:43:00 AM  
PHENOTYPE-GENOTYPE CORRELATIONS IN PRIMARY HYPEROXALURIA TYPE 1: THE I244T, 33_34INSC AND G190R AGXT MUTATION  saoussen mdimegh 1      5/13/2014 10:05:00 PM  
PRIMARY HYPEROXALURIA TYPE I: RESULTS OF A TUNISIAN COHORT  saoussen mdimegh 1      5/13/2014 9:43:00 PM  
HOMOZYGOUS SLC2A9 MUTATION CAUSING SEVERE HYPOURICEMIA AND REVERSIBLE EXERTIONAL ACUTE RENAL FAILURE  JOHN KYRIAZIS 1      5/8/2014 11:28:00 PM  
THE PRESENCE OF PLASMID-MEDIATED ESBLS IN UROPATHOGENS ISOLATED FROM PATIENTS WITH CHRONIC PYELONEPHRITIES  Olga Chub 1      5/7/2014 4:07:00 PM  
CHRONIC KIDNEY DISEASE AND AN UNCERTAIN DIAGNOSIS OF FABRY DISEASE: APPROACH TO A CORRECT DIAGNOSIS  Linda van der Tol 1      4/29/2014 4:25:00 PM  
       




Most viewed poster for this congress
Poster: 7
Visits: 477
Title: SEVERE SYMPTOMATIC ACUTE HYPONATREMIA IN TRAUMATIC BRAIN INJURY RESPONDS VERY RAPIDLY SINGLE 15 MG DOSE OF TOLVAPTAN: A MAYO CLINIC HEALTH SYSTEM HOSPITAL EXPERIENCE - NEED FOR CAUTION WITH TOLVAPTAN IN YOUNGER PATIENTS WITH PRESERVED RENAL FUNCTION
Authors: MACAULAY ONUIGBO ,
Centre: MAYO CLINIC, ROCHESTER & MAYO CLINIC HEALTH SYSTEM, EAU CLAIRE

Poster most viewed in this topic
Poster: 10
Visits: 123
Title: INDEPENDENT PKD1 AND TSC2 MUTATIONS CAUSE A PHENOTYPE DIFFERENT FROM THE TYPICAL CONTIGUOUS GENE SYNDROME
Authors: ROSER TORRA ,
Centre: FUNDACIO PUIGVERT


 








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