Genetic Testing in Pediatric Kidney Disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s12098-020-03198-y.pdf
Reference30 articles.
1. Armstrong ME, Thomas CP. Diagnosis of monogenic chronic kidney diseases. Curr Opin Nephrol Hypertens. 2019;28:183–94.
2. Connaughton DM, Hildebrandt F. Personalized medicine in chronic kidney disease by detection of monogenic mutations. Nephrol Dial Transplant. 2019. https://doi.org/10.1093/ndt/gfz028.
3. Gulati A, Somlo S. Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology. Pediatr Nephrol. 2018;33:745–61.
4. Tullus K, Webb H, Bagga A. Management of steroid-resistant nephrotic syndrome in children and adolescents. Lancet Child Adolesc Health. 2018;2:880–90.
5. Sadowski CE, Lovric S, Ashraf S, et al. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279–89.
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1. A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases;Pediatric Nephrology;2024-02-06
2. Development of steroid-resistant nephrotic syndrome in a child with CAKUT-syndrome;Nephrology (Saint-Petersburg);2023-12-02
3. The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications;Cureus;2023-08-31
4. Importancia de la genética en la nefrología pediátrica;Andes Pediatrica;2023-08-18
5. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies;Kidney International;2023-08
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