NPHP4mutation is linked to cerebello-oculo-renal syndrome and male infertility-Reference-Cited by-同舟云学术

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NPHP4mutation is linked to cerebello-oculo-renal syndrome and male infertility

Published:2013-04-26 Issue:4 Volume:85 Page:371-375
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Alazami A.M.¹,Alshammari M.J.¹,Baig M.,Salih M.A.,Hassan H.H.²,Alkuraya F.S.¹³

Affiliation:

1. Department of Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia

2. Department of Radiology; King Khalid University Hospital and College of Medicine, King Saud University; Riyadh Saudi Arabia

3. Department of Anatomy and Cell Biology; College of Medicine, Alfaisal University; Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Mechanism underlying early anaemia in children with familial juvenile nephronophthisis;Ala-Mello;Pediatr Nephrol,1996

2. Renal transplantation, chronic dialysis, and chronic renal insufficiency in children and adolescents. The 1995 Annual Report of the North American Pediatric Renal Transplant Cooperative Study;Warady;Pediatr Nephrol,1997

3. Pediatric Nephrology

4. Nephronophthisis: disease mechanisms of a ciliopathy;Hildebrandt;J Am Soc Nephrol,2009

5. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes;Mollet;Hum Mol Genet,2005

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1. A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella;Journal of Assisted Reproduction and Genetics;2023-10-13

2. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies;Kidney International;2023-08

3. Proteomics Evaluation of Semen of Clinically Healthy Beagle-Breed Dogs;Veterinary Sciences;2022-12-15

4. The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies;Annual Review of Genomics and Human Genetics;2022-08-31

5. The genetic causes of male infertility: a Middle East and North Africa perspective;F1000Research;2022-06-06

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