Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

Pediatric Nephrology

Volumn 33, Issue 10, 2018, Pages 1701-1712

  Stokman, Marijn F ^a   van der Zwaag, Bert ^a   van de Kar, Nicole C A J ^b   van Haelst, Mieke M ^c,d   van Eerde, Albertien M ^a   van der Heijden, Joost W ^c   Kroes, Hester Y ^a   Ippel, Elly ^a   Schulp, Annelien J A ^e   van Gassen, Koen L ^a   van Rooij, Iris A L M ^b   Giles, Rachel H ^a   Beales, Philip L ^f   Roepman, Ronald ^b,g   Arts, Heleen H ^h   Bongers, Ernie M H F ^b   Renkema, Kirsten Y ^a   Knoers, Nine V A M ^a   van Reeuwijk, Jeroen ^b   Lilien, Marc R ^e  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h MCMASTER UNIVERSITY   (Canada)

Author keywords

Ciliopathy; Clinical registry; Gene phenotype association; Nephronophthisis; Pediatric kidney disease

Indexed keywords

ADULT; ARTICLE; CHILD; CHRONIC KIDNEY FAILURE; CILIOPATHY; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; EARLY DIAGNOSIS; END STAGE RENAL DISEASE; FATIGUE; GENE DELETION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HYPERTENSION; KIDNEY BIOPSY; KIDNEY FUNCTION; KIDNEY SIZE; MOLECULAR DIAGNOSIS; NEPHRONOPHTHISIS; NETHERLANDS; POLYDIPSIA; POLYURIA; PRIORITY JOURNAL; SYMPTOMATOLOGY; ULTRASOUND; UNIVERSITY HOSPITAL; ADOLESCENT; BIOPSY; CLINICAL TRIAL; COMPLICATION; DELAYED DIAGNOSIS; DIAGNOSTIC IMAGING; ECHOGRAPHY; FEMALE; GENETICS; KIDNEY; KIDNEY POLYCYSTIC DISEASE; MALE; MIDDLE AGED; MULTICENTER STUDY; ONSET AGE; PATHOLOGY; PREVENTION AND CONTROL; REGISTER; TIME FACTOR; WHOLE EXOME SEQUENCING; YOUNG ADULT;

MEMBRANE PROTEIN; NPHP1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGE OF ONSET; BIOPSY; CHILD; CILIOPATHIES; DELAYED DIAGNOSIS; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HUMANS; KIDNEY; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MALE; MEMBRANE PROTEINS; MIDDLE AGED; NETHERLANDS; REGISTRIES; TIME FACTORS; ULTRASONOGRAPHY; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85049567838     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-018-3958-7     Document Type: Article

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