Current insights into renal ciliopathies: What can genetics teach us?

Pediatric Nephrology

Volumn 28, Issue 6, 2013, Pages 863-874

  Arts, Heleen H ^a   Knoers, Nine V A M ^b  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Cilia; Genotype phenotype correlations; Next generation sequencing; Personalized medicine; Renal ciliopathies; Renal cysts

Indexed keywords

ATXN10 PROTEIN; CC2D2A PROTEIN; EVC2 PROTEIN; KINESIN 2; MKS1 PROTEIN; MKS3 PROTEIN; NPHP1 PROTEIN; NPHP4 PROTEIN; NPHP5 PROTEIN; PROTEIN; REGULATORY FACTOR X 4; TCTN1 PROTEIN; TMEM138 PROTEIN; TMEM216 PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

CAVALLAZZI SYNDROME; CHRONIC KIDNEY FAILURE; CILIOPATHY; DYSTROPHY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HORSESHOE KIDNEY; HUMAN; INTERSTITIAL NEPHRITIS; JOUBERT SYNDROME; KIDNEY CARCINOMA; KIDNEY CYST; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY POLYCYSTIC DISEASE; MECKEL SYNDROME; MEDULLARY SPONGE KIDNEY; MISSENSE MUTATION; MULTICYSTIC DYSPLASTIC KIDNEY; NEPHRONOPHTHISIS; NONHUMAN; OBESITY; PERSONALIZED MEDICINE; PLURIPOTENT STEM CELL; PRIORITY JOURNAL; REVIEW; SALDINO MAINZER SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; TUBEROUS SCLEROSIS; URINARY TRACT INFECTION;

CILIA; GENETIC ASSOCIATION STUDIES; HUMANS; INDIVIDUALIZED MEDICINE; KIDNEY DISEASES, CYSTIC; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RENAL INSUFFICIENCY;

EID: 84880572027     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-012-2259-9     Document Type: Review

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