Title: Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract
Authors: Raaijmakers, Anke ×
Corveleyn, Anniek
Devriendt, Koenraad
van Tienoven, Theun Pieter
Allegaert, Karel
Van Dyck, Mieke
van den Heuvel, Bert
Kuypers, Dirk
Claes, Kathleen
Mekahli, Djalila #
Levtchenko, Elena #
Issue Date: May-2015
Publisher: Springer International
Series Title: Nephrology, Dialysis, Transplantation vol:30 issue:5 pages:835-842
Article number: gfu370
Abstract: Congenital anomalies of kidneys and urinary tract (CAKUT) are the most predominant developmental disorders comprising ∼20-30% of all anomalies identified in the prenatal period. Mutations in hepatocyte nuclear factor 1-beta (HNF-1β) involved in the development of kidneys, liver, pancreas and urogenital tract are currently the most frequent monogenetic cause of CAKUT found in 10-30% of patients depending on screening policy and study design. We aimed to validate criteria for analysis of HNF1B in a prospective cohort of paediatric and adult CAKUT patients.
ISSN: 0931-0509
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Organ Systems (+)
Laboratory for Molecular Diagnosis
Laboratory of Nephrology
× corresponding author
# (joint) last author

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