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52nd ERA-EDTA Congress

 

28-31 May 2015 London
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Discussion forum - 52nd ERA-EDTA Congress
    Topic - D) Genetic diseases and molecular genetics.

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 Thread / Poster  Author  Replies  Last reply
SCREENING FABRY DISEASE IN PATIENTS WITH CHRONIC KIDNEY DISEASE WITHOUT RENAL REPLACEMENT THERAPY: PRELIMINARY RESULTS OF A MULTICENTER STUDY  Yavuz Yenicerioglu 1      5/19/2015 12:47:00 AM  
TRASCRIPTOME NEXT GENERATION SEQUENCING (NGS) FROM FORMALIN-FIXED, PARAFFIN-EMBEDDED (FFPE) KIDNEY BIOPSIES IS FEASIBLE  ystein Solberg Eikrem 1      5/18/2015 10:49:00 PM  
MUTATIONS IN INFANTIL NEPHROTIC SYNDROME AND WORSE PROGNOSTIC RESULTS OF E117K POLYMORPHISM IN NPHS1  ebru y&305;lmaz 1      5/18/2015 6:26:00 PM  
FAMILY-BASED LINKAGE ANALYSIS AND FULL EXOME SEQUENCING FOR THE IDENTIFICATION OF POTENTIAL RISK VARIANTS IN IGA NEPHROPATHY  Sharon N. Cox 1      5/18/2015 4:51:00 PM  
CHARACTERISATION OF A C3 MUTATION WITH INCREASED RESISTANCE TO COMPLEMENT REGULATION IN AN INDIVIDUAL WITH RECURRENT C3GN IN A RENAL TRANSPLANT  Edwin Wong 1      5/18/2015 4:38:00 PM  
ATYPICAL HEMOLYTIC UREMIC SYNDROME TARGETED RE-SEQUENCING STUDY IN A SOUTH ITALIAN COHORT OF PATIENTS  Matteo Accetturo 1      5/18/2015 12:20:00 PM  
LOSS OF KIDNEY PROGENITOR CELLS IN URINE OF CYSTINOSIS PATIENTS  Fanny Oliveira Arcolino 1      5/18/2015 12:16:00 PM  
SERUM IGA1 HINGE REGION O-GLYCOSYLATION IS A HERITABLE TRAIT IN CAUCASIANS  Karen Molyneux 1      5/18/2015 11:34:00 AM  
IDENTIFICATION AND FUNCTIONAL STUDY OF A HETEROZYGOUS MISSENSE MUTATION IN UMOD GENE IN AN ITALIAN FAMILY AFFECTED BY MEDULLARY CYSTIC KIDNEY DISEASE TYPE II.  Renzo Bonofiglio 1      5/18/2015 11:07:00 AM  
EFFECTS OF TRANSTHYRETIN STABILIZER-TAFAMIDIS ON ATTR AMYLOIDOSIS RENAL DAMAGE: PERSISTENT REDUCTION OF ALBUMINURIA  Ana Rocha 1      5/17/2015 11:34:00 PM  
COMPOUND HETEROZYGOUS MUTATIONS IN AMNIONLESS CAUSE IMERSLUND-GRSBECK SYNDROME IN TWO HALF-SISTERS.  Emma Montgomery 1      5/17/2015 10:30:00 PM  
PHENOTYPIC ANALYSIS OF A COHORT OF PATIENTS WITH HEPATOCYTE NUCLEAR FACTOR 1 BETA (HNF1b) MUTATIONS.  Emma Montgomery 1      5/17/2015 10:24:00 PM  
SENIOR-LOKEN SYNDROME: ABOUT TWO CASES  Amina Izem 1      5/17/2015 8:20:00 PM  
CLINICAL AND MOLECULAR GENETIC CORRELATIONS IN FAMILIES WITH UMOD VARIANTS  Michael Kelly 1      5/17/2015 5:19:00 PM  
HNF1B WHOLE-GENE DELETIONS ARE ASSOCIATED WITH AUTISTIC TRAITS  Rhian Clissold 1      5/17/2015 2:19:00 PM  
A GENOMIC ANALYSIS OF MONOZYGOTIC TWINS DISCORDANT FOR THE EXPRESSION OF MEGAURETER USING THE WHOLE EXOME TECHNIQUE  Augusto Cesar Soares dos Santos Junior 1      5/16/2015 4:07:00 AM  
ASSOCIATION BETWEEN ANDERSON-FABRY DISEASE CLINICAL SEVERITY AND HIGH-SENSITIVITY TROPONIN-T LEVELS  Federico Pieruzzi 1      5/15/2015 5:46:00 PM  
PLASMA HOMOCYSTEINE LEVELS AS A PREDICTOR OF PRE-ECLAMPSIA IN PREGNANCY  Sohan Shah 1      5/14/2015 2:12:00 PM  
IDIOPATHIC RENAL HYPOURICEMIA: IDENTIFICATION AND CHARACTERIZATION OF SLC22A12 MUTATIONS IN SPANISH PATIENTS  Felix Claverie-Martin 1      5/13/2015 6:43:00 PM  
DIETARY PROTEIN LOADING MODULATES DISEASE PROGRESSION IN AN ORTHOLOGOUS MOUSE MODEL OF ADPKD.  Junya Yamamoto 1      5/8/2015 4:45:00 AM  
THE FREQUENCY OF MEFV GENE MUTATIONS IN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE PATIENTS  Alpaslan Altunoglu 1      5/7/2015 5:31:00 PM  
GLYCOSILATION PROFILE OF IMMUNOGLOBULIN G IN EARLY CHRONIC KIDNEY DISEASE  Clara Barrios Barrera 1      5/5/2015 8:17:00 PM  
CAVEOLIN-1 POLYMORPHISM ASSOCIATION WITH ARTERIAL STIFFNESS IN NON-DIALYSIS CKD  Sourabh Chand 1      5/4/2015 11:49:00 PM  
ASSOCIATION OF MONOCYTE CHEMOATTRACTANT PROTEIN-1 -2518AG POLYMORPHISM WITH CAROTID ARTERY INTIMA-MEDIA THICKNESS IN PATIENTS WITH DIABETIC NEPHROPATHY  STEFANOS ROUMELIOTIS 1      5/4/2015 6:27:00 PM  
THE INACTIVE FORM OF MATRIX GLA PROTEIN (MGP) IS NOT ASSOCIATED WITH MGP GENE PROMOTER T-138C POLYMORPHISM IN PATIENTS WITH DIABETIC NEPHROPATHY  STEFANOS ROUMELIOTIS 1      5/4/2015 6:18:00 PM  
EVALUATION OF VENTRICULAR REPOLARIZATION IN FAMILIAL MEDITERRANEAN FEVER PATIENTS WITH/WITHOUT AMYLOIDOSIS  Ekrem Kara 1      4/23/2015 10:36:00 PM  
MURINE RECOMBINANT ACE2 ATTENUATES KIDNEY INJURY IN EXPERIMENTAL ALPORTS SYNDROME (AS)  EUNHUI BAE 1      4/16/2015 9:20:00 AM  
       




Most viewed poster for this congress
Poster: 625
Visits: 3858
Title: IS 4 CITRATE AN EFFECTIVE TOOL AS A CATHETER LOCKING SOLUTION?
Authors: Joao Fazendeiro Matos ,
Centre: Fresenius Medical Care | NephroCare Portugal

Poster most viewed in this topic
Poster: 5
Visits: 247
Title: EFFECTS OF TRANSTHYRETIN STABILIZER-TAFAMIDIS ON ATTR AMYLOIDOSIS RENAL DAMAGE: PERSISTENT REDUCTION OF ALBUMINURIA
Authors: Ana Rocha ,
Centre: Centro Hospitalar do Porto


 






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