Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases-Reference-Cited by-同舟云学术

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Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

Published:2018-01-25 Issue:4 Volume:22 Page:881-888
ISSN:1342-1751
Container-title:Clinical and Experimental Nephrology
language:en
Short-container-title:Clin Exp Nephrol

Author:

Nagano China,Nozu Kandai^ORCID,Morisada Naoya,Yazawa Masahiko,Ichikawa Daisuke,Numasawa Keita,Kourakata Hiroyo,Matsumura Chieko,Tazoe Satoshi,Tanaka Ryojiro,Yamamura Tomohiko,Minamikawa Shogo,Horinouchi Tomoko,Nakanishi Keita,Fujimura Junya,Sakakibara Nana,Nozu Yoshimi,Ye Ming Juan,Kaito Hiroshi,Iijima Kazumoto

Funder

Ministry of Health, Labour and Welfare

Ministry of Education, Culture, Sports, Science and Technology of Japan

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Nephrology,Physiology

Link

http://link.springer.com/article/10.1007/s10157-018-1534-x/fulltext.html

Reference15 articles.

1. Kesselheim A, Ashton E, Bockenhauer D. Potential and pitfalls in the genetic diagnosis of kidney diseases. Clin Kidney J. 2017;10(5):581–5.

2. Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol JASN. 2015;26(6):1279–89.

3. Bullich G, Trujillano D, Santin S, Ossowski S, Mendizabal S, Fraga G, et al. Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. Eur J Hum Genet. 2015;23(9):1192–9.

4. Girirajan S, Campbell CD, Eichler EE. Human copy number variation and complex genetic disease. Annu Rev Genet. 2011;45:203 – 26.

5. Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genom. 2011;12:184.

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1. In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected;Pediatric Nephrology;2024-08-02

2. Genotype–phenotype correlations in children with Gitelman syndrome;Clinical and Experimental Nephrology;2024-03-13

3. In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants less common than previously reported;2024-03-05

4. Spectrum of variants in a large Chinese Gitelman syndrome cohort;Clinical Genetics;2023-09-13

5. Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families;Pediatric Nephrology;2023-09-05

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