WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease-Reference-Cited by-同舟云学术

WDR73Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

Published:2015-08-06 Issue:11 Volume:36 Page:1021-1028
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vodopiutz Julia¹,Seidl Rainer¹,Prayer Daniela²,Khan M. Imran³,Mayr Johannes A.⁴,Streubel Berthold⁵,Steiß Jens-Oliver⁶,Hahn Andreas⁷,Csaicsich Dagmar¹,Castro Christel⁸⁹,Assoum Mirna⁸⁹,Müller Thomas³,Wieczorek Dagmar¹⁰,Mancini Grazia M. S.¹¹,Sadowski Carolin E.¹²¹³,Lévy Nicolas⁸⁹¹⁴,Mégarbané André¹⁵¹⁶,Godbole Koumudi¹⁷,Schanze Denny¹⁸,Hildebrandt Friedhelm¹²,Delague Valérie⁸⁹,Janecke Andreas R.³¹⁹,Zenker Martin¹⁸²⁰

Affiliation:

1. Department of Pediatrics and Adolescent Medicine; Medical University of Vienna; Austria

2. Division of Neuroradiology and Musculoskeletal Radiology; Medical University of Vienna; Austria

3. Department of Pediatrics I; Medical University of Innsbruck; Innsbruck Austria

4. Department of Pediatrics; Paracelsus Medical University; Salzburg Austria

5. Department of Obstetrics and Feto-Maternal Medicine; Medical University of Vienna; Austria

6. Department of Pediatrics; Justus-Liebig-University; Gießen Germany

7. Department of Child Neurology; Justus-Liebig-University; Gießen Germany

8. Inserm; UMR_S 910, 13385 Marseille France

9. Aix Marseille Université; GMGF Marseille France

10. Institute of Human Genetics; University of Essen; Germany

11. Department of Clinical Genetics; Erasmus University Medical Center; Rotterdam The Netherlands

12. Harvard Medical School; Boston Children's Hospital; Boston Massachusetts

13. Department of Gynecology and Obstetrics; University Hospital Carl Gustav Carus; Technische Universität Dresden; Germany

14. Département de Génétique Médicale; Hôpital d'Enfants de la Timone, AP-HM; Marseille France

15. Université Saint Joseph; Campus des Sciences Médicales; Unité de génétique médicale; Lebanon

16. Institut Jérôme Lejeune; Paris France

17. Deenanath Mangeshkar Hospital & Research Center; Erandawane; Pune India

18. Institute of Human Genetics; University Hospital; Magdeburg Germany

19. Division of Human Genetics; Medical University of Innsbruck; Innsbruck Austria

20. Institute of Human Genetics; University of Erlangen; Erlangen Germany

Funder

Association Francaise Contre les Myopathies

Austrian society of Pediatrics

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22828/fullpdf

Reference21 articles.

1. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nat Genet,2002

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome;Ben-Omran;J Med Genet.,2015

4. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome;Colin;Am J Hum Genet,2014

5. Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy;Cooperstone;Am J Med Genet,1993

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