NPHS2Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum-Reference-Cited by-同舟云学术

NPHS2Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

Published:2013-12-09 Issue:2 Volume:35 Page:178-186
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bouchireb Karim¹²³,Boyer Olivia¹²³,Gribouval Olivier²³,Nevo Fabien²³,Huynh-Cong Evelyne²³,Morinière Vincent⁴,Campait Raphaëlle⁴,Ars Elisabet⁵,Brackman Damien⁶,Dantal Jacques⁷,Eckart Philippe⁸,Gigante Maddalena⁹,Lipska Beata S.¹⁰,Liutkus Aurélia¹¹,Megarbane André¹²,Mohsin Nabil¹³,Ozaltin Fatih¹⁴,Saleem Moin A.¹⁵,Schaefer Franz¹⁶,Soulami Kenza¹⁷,Torra Roser¹⁸,Garcelon Nicolas⁴¹⁹,Mollet Géraldine²³,Dahan Karin²⁰,Antignac Corinne⁴²³

Affiliation:

1. Assistance Publique-Hôpitaux de Paris, Service de Néphrologie Pédiatrique; Centre de Référence des Maladies Rénales Héréditaires (MARHEA), Hôpital Necker-Enfants Malades; Paris France

2. Inserm U983; Institut Imagine, Hôpital Necker-Enfants Malades; Paris France

3. Université Paris Descartes-Sorbonne Paris Cité; Paris France

4. Assistance Publique-Hôpitaux de Paris; Département de Génétique, Hôpital Necker-Enfants Malades; Paris France

5. Molecular Biology Laboratory; Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III; Barcelona Spain

6. Department of Pediatrics; Haukeland University Hospital; Bergen Norway

7. Service de Néphrologie et Immunologie Clinique; ITERT, CHU Hôtel Dieu; Nantes France

8. Service de pédiatrie médicale; CHU de Caen; Caen France

9. Department of Medical and Surgical Sciences; University of Foggia; Foggia Italy

10. Department of Biology and Genetics; Medical University of Gdansk; Gdansk 80-211 Poland

11. Service de Néphrologie et Rhumatologie Pédiatriques; Centre de référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant; Bron France

12. Unité de Génétique Médicale, Faculté de Médecine; Université Saint Joseph; Beirut Lebanon

13. Department of Nephrology; Royal Hospital; Muscat Oman

14. Nephrogenetics Laboratory, Department of Pediatric Nephrology; Hacettepe University Faculty of Medicine; Ankara Turkey

15. Department of Paediatric Nephrology; Bristol Royal Hospital for Children, Academic Renal Unit, School of Clinical Sciences, University of Bristol; Bristol UK

16. PodoNet Consortium; Division of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine; Heidelberg Germany

17. CHU Ibn Rochd; Service de Néphrologie Dialyse Transplantation; Casablanca Morocco

18. Nephrology Department; Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDinREN, Instituto de Investigación Carlos III; Barcelona Spain

19. Inserm U872; Institut Imagine, Hôpital Necker-Enfants Malades; Paris France

20. Centre de Génétique Humaine; Université Catholique de Louvain; Bruxelles Belgique

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22485/fullpdf

Reference83 articles.

1. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan;Abid;Gene,2012

2. A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families;Al-Hamed;J Hum Genet,2013

3. Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis;Aucella;Nephron Clin Pract,2005