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54th ERA-EDTA Congress

 

3rd-6th June 2017 Madrid
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Discussion forum - 54th ERA-EDTA Congress
    Topic - Genetic diseases & molecular genetics

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 Thread / Poster  Author  Replies  Last reply
MOLECULAR CHARACTERIZATION OF A NOVEL MUTATION IN THE RENAL NACL COTRANSPORTER CAUSING GITELMANS SYNDROME BY IMPAIRING TRANSPORTER TRAFFICKING  Verdiana Ravarotto 1      5/28/2017 11:19:00 PM  
CIRCULATING HNMR BASED METABOLOMIC PROFILE ASSOCIATED TO PROTEINURIA IN DIABETIC PATIENT  Clara Barrios Barrera 1      5/28/2017 7:24:00 PM  
CHANGE IN PROTEOME BEFORE AND AFTER CYSTEAMINE TREATMENT ON A TRANSPLANTED PATIENT WITH CYSTINOSIS AND COMPARISON WITH THE PROTEOME OF THE GENETICALLY RELATED HLA-IDENTICAL KIDNEY DONOR  Rita Magrico 1      5/25/2017 11:41:00 PM  
HEALTH-RELATED QUALITY OF LIFE FOR PATIENTS WITH TUBEROUS SCLEROSIS COMPLEX AND ASSOCIATED MANIFESTATIONS  Maureen Neary 1      5/25/2017 10:22:00 PM  
DYSREGULATION OF PPAR SIGNALING PATHWAY, FOCAL ADHESION PATHWAY AND DECREASED INTEGRIN LINKED KINASE ARE EARLY EVENTS IN COL4A3 -/- MICE MANIFESTING ALPORT SYNDROME  Andreas Kousios 1      5/25/2017 2:03:00 PM  
IDENTIFICATION OF A NEW COMPLEMENT FACTOR H MUTATION IN A PATIENT WITH PREGNANCY ASSOCIATED ATYPICAL HEMOLYTIC-UREMIC SYNDROME  Domenico Santoro 1      5/25/2017 1:47:00 PM  
IDENTIFCATION OF A NEW HAPLOTYPE OF RISK IN CFH GENE PREDISPONING TO DEVELOP A SEVERE THROMBOTIC MICROANGIOPATHY  Anna Perri 1      5/25/2017 1:42:00 PM  
NLRP3 RS10754558 FUNCTIONAL POLYMORPHISM INCREASES THE SUSCEPTIBILITY TO RENAL DISEASE AND ENHANCHES THE CARDIOVASCULAR RISK  Anna Perri 1      5/25/2017 11:23:00 AM  
THE ASSOCIATION OF UROMODULIN GENOTYPE WITH RENAL CANCER AGGRESSIVENESS  FRANCESCO TREVISANI 1      5/25/2017 9:19:00 AM  
NEW TECHNOLOGIES IN DNA ANALYSIS OF POLYCYSTIC KIDNEY DISEASES  Jana Reiterova 1      5/24/2017 3:14:00 PM  
KIDNEY VOLUME EVALUATION IN AUTOSOMAL DOMINANT POLYCISTIC KIDNEY DISEASE (ADPKD) PATIENTS RENAL OUTCOMES  Luca Di Lullo 1      5/23/2017 10:07:00 PM  
ACUTE INTERMITTENT PORPHYRIA IN ELDERLY UNDERGOING HEMODIALYSIS: RESOLUTION OF TETRAPLEGIA WITH SYSTEMIC HEMIN AND REHABILITATION  Claudio Carmine Guida 1      5/23/2017 9:04:00 PM  
COQ6 AND COQ2 MUTATIONS ASSOCIATED WITH STEROID RESISTANT NEPHROTIC SYNDROME  Maddalena Gigante 1      5/23/2017 4:18:00 PM  
GENETIC AND RENAL CLINICAL CHARACTERIZATION OF FAMILIAL MEDITERRANEAN FEVER IN ARMENIAN POPULATION  Zaruhi Stepanyan 1      5/23/2017 1:01:00 PM  
INCIDENTAL FABRY DISEASE DIAGNOSIS IN NEPHROLOGY UNIT  Luca Di Lullo 1      5/23/2017 11:47:00 AM  
PREFINE PROJECT: STRATEGIC PLAN TO IMPROVE KNOWLEDGE & RECOGNITION OF FABRY DISEASE AMONG SPANISH NEPHROLOGISTS  Maria Dolores del Pino 1      5/22/2017 6:01:00 PM  
FABRY DISEASE. RENAL INVOLVEMENT IN WOMEN IS MORE FREQUENT THAN EXPECTED.  Fernando Perretta 1      5/13/2017 4:52:00 AM  
       




Most viewed poster for this congress
Poster: 9
Visits: 267
Title: Report on dialysis and kidney transplantation in Serbia 2011-2014. Compare to others
Authors: Simic Ogrizovic Sanja ,
Centre: Serbian society of nephrology

Poster most viewed in this topic
Poster: 38
Visits: 58
Title: PREFINE PROJECT: STRATEGIC PLAN TO IMPROVE KNOWLEDGE & RECOGNITION OF FABRY DISEASE AMONG SPANISH NEPHROLOGISTS
Authors: Maria Dolores del Pino , Pedro Vidau, Vicens Torregrosa, Joan Torras, Rafael Santamaria, Jose Carlos Rodriguez, Manuel Posada,Jose Paniagua, Maria Isabel Martinez, Jose Luņo, Domingo Hernandez, Juan de Dios Garcia, Elvira Fernandez, Joaquin de Juan, Ana Avila, Amado Andres
Centre: Hospital Torrecardenas


 




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