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Genetic Studies of Familial Vesicoureteral Reflux


Please use this identifier to cite or link to this item: http://hdl.handle.net/2077/56353

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Title: Genetic Studies of Familial Vesicoureteral Reflux
Authors: Ingulf Bartik, Zsuzsa
E-mail: zsuzsa.bartik@vgregion.se
Issue Date: 31-Aug-2018
University: University of Gothenburg. Sahlgrenska Academy
Institution: Institute of Clinical Sciences. Department of Pediatrics
Parts of work: I. Bartik Z I, Nordenskjöld A, Sjöström S, Sixt R, Sillén U. Hereditary Vesicoureteral Reflux: A Study of 66 Families. Open Journal of Pediatrics (2015) 5:304-313
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II. Zu S, Bartik Z, Zhao S, Sillén U, Nordenskjöld A. Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux. Pediatr Nephrol (2009) 24: 1501-1508
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III. Bartik Z I, Sillén U, Östensson M, Fransson S, Djos A, Sjöberg R-M, Martinsson T. A genome-wide scan locating candidate regions of familial vesicoureteral reflux. Manuscript

IV. Bartik Z I, Sillén U, Martinsson T, Djos A, Lindholm A, Fransson S. Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux. Manuscript
Date of Defence: 2018-09-21
Disputation: Fredagen den 21 september 2018, kl. 9.00, Föreläsningssalen Tallen, DSBUS, SU/Östra, Rondvägen 10.
Degree: Doctor of Philosophy (Medicine)
Publication type: Doctoral thesis
Keywords: Vesicoureteral reflux
Heredity
Genetic heterogeneity
Phenotype
Renal hypodysplasia
Renal development
Genome-wide association studies
Single nucleotide polymorphism
Haplotype sharing
DNA copy number variations
Whole exome sequencing
Abstract: Vesicoureteral reflux (VUR) is a common congenital anomaly with a high risk of recurrent urinary tract infections (UTI) and, as a consequence, scarring of the renal parenchyma. Additionally, high-grade reflux is often associated with congenital renal damage (hypodysplasia). A clear heredity is seen, although genetic factors are only known for a minority of cases. The aim of this thesis was to study the heritability and genetic contribution as well as to compare the differences between familial a... more
ISBN: 978-91-7833-092-8 (PDF)
978-91-7833-091-1 (PRINT)
URI: http://hdl.handle.net/2077/56353
Appears in Collections:Doctoral Theses from Sahlgrenska Academy
Doctoral Theses from University of Gothenburg / Doktorsavhandlingar från Göteborgs universitet
Doctoral Theses / Doktorsavhandlingar Institutionen för kliniska vetenskaper

 

 

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