Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis-Reference-Cited by-同舟云学术

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Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

Published:2019-08-10 Issue:1 Volume:76 Page:16-24
ISSN:1784-3286
Container-title:Acta Clinica Belgica
language:en
Short-container-title:Acta Clinica Belgica

Author:

Abdelwahed Mayssa¹^ORCID,Maaloul Ines²,Benoit Valerie³,Hilbert Pascale³,Hachicha Mongia²,Kamoun Hassen⁴,Keskes-Ammar Leila¹,Belguith Neila¹⁴

Affiliation:

1. Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia

2. Pediatric Department of Hedi Chaker Hospital, Sfax, Tunisia

3. Center of Human Genetics, Institute of Pathology and Genetics, Biopark Charleroi Brussels, Gosselies, Belgium

4. Medical Genetics Department of Hedi Chaker Hospital, Sfax, Tunisia

Publisher

Informa UK Limited

Subject

General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/17843286.2019.1655231

Reference49 articles.

1. Néphronophtise

2. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies

3. Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

4. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular biology, genetic, and epigenetics of kidney disease;Genetics and Epigenetics of Genitourinary Diseases;2025

2. NPHP1‐Related ciliopathies: A new case and major review of the ophthalmic manifestations of 147 reported cases;Clinical Case Reports;2023-08-30

3. Nephronophthisis due to mutation in the TMEM67 gene;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2022-06-10

4. A case report of NPHP1 deletion in Chinese twins with nephronophthisis;BMC Medical Genetics;2020-04-19

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