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

@inproceedings{Stokman2018ClinicalAG,
  title={Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy},
  author={Marijn F Stokman and Bert van der Zwaag and Nicole C A J van de Kar and Mieke M van Haelst and Albertien M van Eerde and Joost W. van der Heijden and Hester Y. Kroes and Elly P F Ippel and Annelien J. A. Schulp and Koen L van Gassen and Iris A.L.M. van Rooij and Rachel H Giles and Philip L. Beales and Ronald Roepman and Heleen H. Arts and Ernie Mhf Bongers and Kirsten Yvet Renkema and Nine Vam Knoers and Jeroen van Reeuwijk and Marc R. Lilien},
  booktitle={Pediatric Nephrology},
  year={2018}
}
BackgroundNephronophthisis is an autosomal recessive ciliopathy and important cause of end-stage renal disease (ESRD) in children and young adults. Diagnostic delay is frequent. This study investigates clinical characteristics, initial symptoms, and genetic defects in a cohort with nephronophthisis-related ciliopathy, to improve early detection and genetic counseling.MethodsForty patients from 36 families with nephronophthisis-related ciliopathy were recruited at university medical centers and… CONTINUE READING
BETA
17
Twitter Mentions

References

Publications referenced by this paper.
SHOWING 1-10 OF 38 REFERENCES

Gesellschaft für Pädiatrische Nephrologie (GPN

J König, B Kranz, +21 authors M Konrad
  • Clin J Am Soc Nephrol
  • 2017
VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.

  • Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
  • 2012
VIEW 6 EXCERPTS
HIGHLY INFLUENTIAL

Pediatric kidney size percentile calculator

M. Kulon
  • Radiology Universe Institute https://radiology-universe.org/calculator/ pediatric-kidney-sizes/calculator.php. Accessed
  • 2018
VIEW 1 EXCERPT

A (eds) Cranioectodermal Dysplasia. GeneReviews® [internet

H Arts, N Knoers
  • 2017

A (eds) Nephronophthisis. GeneReviews® [Internet

M Stokman, M Lilien, N Knoers
  • 2017
VIEW 1 EXCERPT

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.

  • Clinical journal of the American Society of Nephrology : CJASN
  • 2017

Contribution of the TTC21B gene to glomerular and cystic kidney diseases.

  • Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
  • 2016
VIEW 1 EXCERPT

Similar Papers

Loading similar papers…