[5] Weaver J, Rove K O, Meenakshi-Sundaram B, Vricella G J. Genetic Testing Proves Crucial in Case of Ambiguous Genitalia and Renal Masses[J]. Urology,2019,129:194-196. [6] Roca N, Muñoz M, Cruz A, Vilalta R, Lara E, Ariceta G. Long-term outcome in a case series of Deny...
Unveiling X-linked Alport Syndrome: Genetic Testing in FSGSdoi:10.1681/ASN.2024zm730753Nitika AgrawalSteven Thomas HeidtPravir V. BaxiAmerican Society of NephrologyJournal of the American Society of Nephrology
因此,我们在术前会对患儿进行全面的评估和准备, including genetic testing and assessment of immune status, 包括基因检测和免疫状态的评估, to minimize the risk of recurrence as much as possible. 以尽量降低复发的风险。 At the sam...
Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing[J]. Kidney Int, 2014,85(5):1030-1038. DOI: 10.1038/ki.2014.48 . 返回引文位置Google Scholar 百度学术 万方数据 [5] Xie J , Wu X , Ren H ,et al. COL4A3 mutations cause focal segmental ...
Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing[J]. PLoS One, 2016,11(12):e0167467. DOI: 10.1371/journal.pone.0167467 . 返回引文位置Google Scholar 百度学术 ...
In infants with steroid-resistant nephrotic syndrome, a genetic defect can be identified in up to two-thirds of patients [18]. Furthermore, genetic testing is more likely to identify a genetic basis of FSGS in young children, patients with syndromic disease, or a positive family history. In ...
4. Santín S, Bullich G, Tazón-Vega B, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol 2011; 6:1139. 5. Brown EJ, Schlöndorff JS, Becker DJ, et al. Mutations in the formin gene INF2 cause focal...
Genetic Testing in Focal Segmental Glomerulosclerosis (FSGS): Tale of Three Storiesdoi:10.1681/ASN.20213210S1427bGaurav RajashekarYing M. ChenAmerican Society of NephrologyJournal of the American Society of Nephrology
Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing. Kidney Int. 2014;85(5):1030-8.Brown, E.J., Pollak, M.R. and Barua, M. (2014) Genetic testing for nephrotic syndrome and FSGS in the era of next-gener- ation sequencing. Kidney Int., 85, ...
GENETIC TESTING IN FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS) IS MANDATORY BEFORE RENAL TRANSPLANTATION: RESULTS FROM THE ECOFTS (EUROPEAN COLLABORATIVE FSGS TRANSPLANTATION STUDY): 485.An abstract is unavailable. This article is available as a PDF only....