SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "WFRF:(Rösch Wolfgang) "

Search: WFRF:(Rösch Wolfgang)

  • Result 1-3 of 3
Sort/group result
   
EnumerationReferenceCoverFind
1.
  • Reutter, Heiko, et al. (author)
  • Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
  • 2014
  • In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:20, s. 5536-5544
  • Journal article (peer-reviewed)abstract
    • Bladder Exstrophy-Epispadias Complex (BEEC), the severe end of the uro-rectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218/865 cases/controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P=8.88 x 10(-5); follow-up: P=0.0025; combined: 1.09 x 10(-6)) in a highly conserved 32kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P=0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.
  •  
2.
  • Vivier, Pierre-Hugues, et al. (author)
  • Standardization of pediatric uroradiological terms : A multidisciplinary European glossary
  • 2017
  • In: Journal of Pediatric Urology. - : Elsevier BV. - 1477-5131 .- 1873-4898. ; 13:6, s. 641-650
  • Journal article (other academic/artistic)abstract
    • To promote the standardization of nephro-uroradiological terms used in children, the European Society of Pediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication among different clinicians involved in pediatric urology and nephrology.
  •  
3.
  • Vivier, Pierre-Hugues, et al. (author)
  • Standardization of pediatric uroradiological terms : a multidisciplinary European glossary
  • 2018
  • In: Pediatric Radiology. - : SPRINGER. - 0301-0449 .- 1432-1998. ; 48:2, s. 291-303
  • Journal article (peer-reviewed)abstract
    • To promote the standardization of nephro-uroradiological terms used in children, the European Society of Paediatric Radiology uroradiology taskforce wrote a detailed glossary. This work has been subsequently submitted to European experts in pediatric urology and nephrology for discussion and acceptance to improve the quality of radiological reports and communication between different clinicians involved in pediatric urology and nephrology.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 1-3 of 3

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view