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Journal Abstract Search

236 related items for PubMed ID: 34762194

  • 1. Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria.
    Xiao H, Hildebrandt F.
    Pediatr Nephrol; 2022 Jul; 37(7):1567-1574. PubMed ID: 34762194
    [Abstract] [Full Text] [Related]

  • 2. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.
    Schapiro D, Daga A, Lawson JA, Majmundar AJ, Lovric S, Tan W, Warejko JK, Fessi I, Rao J, Airik M, Gee HY, Schneider R, Widmeier E, Hermle T, Ashraf S, Jobst-Schwan T, van der Ven AT, Nakayama M, Shril S, Braun DA, Hildebrandt F.
    Nephrol Dial Transplant; 2019 Mar 01; 34(3):474-485. PubMed ID: 30295827
    [Abstract] [Full Text] [Related]

  • 3. Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
    Pantel D, Mertens ND, Schneider R, Hölzel S, Kari JA, Desoky SE, Shalaby MA, Lim TY, Sanna-Cherchi S, Shril S, Hildebrandt F.
    Pediatr Nephrol; 2024 Feb 01; 39(2):455-461. PubMed ID: 37670083
    [Abstract] [Full Text] [Related]

  • 4. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
    Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F.
    Clin J Am Soc Nephrol; 2018 Jan 06; 13(1):53-62. PubMed ID: 29127259
    [Abstract] [Full Text] [Related]

  • 5. Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
    Vivante A, Chacham OS, Shril S, Schreiber R, Mane SM, Pode-Shakked B, Soliman NA, Koneth I, Schiffer M, Anikster Y, Hildebrandt F.
    Pediatr Nephrol; 2019 Sep 06; 34(9):1607-1613. PubMed ID: 31001663
    [Abstract] [Full Text] [Related]

  • 6. Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
    Wang F, Zhang Y, Mao J, Yu Z, Yi Z, Yu L, Sun J, Wei X, Ding F, Zhang H, Xiao H, Yao Y, Tan W, Lovric S, Ding J, Hildebrandt F.
    Pediatr Nephrol; 2017 Jul 06; 32(7):1181-1192. PubMed ID: 28204945
    [Abstract] [Full Text] [Related]

  • 7. Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
    Lovric S, Fang H, Vega-Warner V, Sadowski CE, Gee HY, Halbritter J, Ashraf S, Saisawat P, Soliman NA, Kari JA, Otto EA, Hildebrandt F, Nephrotic Syndrome Study Group.
    Clin J Am Soc Nephrol; 2014 Jun 06; 9(6):1109-16. PubMed ID: 24742477
    [Abstract] [Full Text] [Related]

  • 8. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
    Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, El Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F.
    Nephrol Dial Transplant; 2019 Mar 01; 34(3):485-493. PubMed ID: 29534211
    [Abstract] [Full Text] [Related]

  • 9. Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
    Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJ, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM, Simpson M, Koziell AB, Welsh GI, Saleem MA.
    Kidney Int; 2017 Apr 01; 91(4):937-947. PubMed ID: 28117080
    [Abstract] [Full Text] [Related]

  • 10. Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome - implications for resource-constrained settings.
    Kaur A, Banday AZ, Dawman L, Rawat A, Tiewsoh K.
    Pediatr Nephrol; 2023 Nov 01; 38(11):3663-3670. PubMed ID: 37335381
    [Abstract] [Full Text] [Related]

  • 11. Genetic testing in steroid-resistant nephrotic syndrome: when and how?
    Lovric S, Ashraf S, Tan W, Hildebrandt F.
    Nephrol Dial Transplant; 2016 Nov 01; 31(11):1802-1813. PubMed ID: 26507970
    [Abstract] [Full Text] [Related]

  • 12. Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome.
    Zhao F, Zhu JY, Richman A, Fu Y, Huang W, Chen N, Pan X, Yi C, Ding X, Wang S, Wang P, Nie X, Huang J, Yang Y, Yu Z, Han Z.
    J Am Soc Nephrol; 2019 May 01; 30(5):840-853. PubMed ID: 30910934
    [Abstract] [Full Text] [Related]

  • 13. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
    Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, Shril S, Gee HY, Baum M, Daouk G, Ferguson MA, Rodig N, Somers MJG, Stein DR, Vivante A, Warejko JK, Widmeier E, Hildebrandt F.
    Pediatr Nephrol; 2018 Feb 01; 33(2):305-314. PubMed ID: 28921387
    [Abstract] [Full Text] [Related]

  • 14. Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
    Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA.
    Mol Genet Genomic Med; 2023 Sep 01; 11(9):e2201. PubMed ID: 37204080
    [Abstract] [Full Text] [Related]

  • 15. Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.
    Downie ML, Gupta S, Chan MMY, Sadeghi-Alavijeh O, Cao J, Parekh RS, Diz CB, Bierzynska A, Levine AP, Pepper RJ, Stanescu H, Saleem MA, Kleta R, Bockenhauer D, Koziell AB, Gale DP.
    Pediatr Nephrol; 2023 Jun 01; 38(6):1793-1800. PubMed ID: 36357634
    [Abstract] [Full Text] [Related]

  • 16. Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?
    Preston R, Stuart HM, Lennon R.
    Pediatr Nephrol; 2019 Feb 01; 34(2):195-210. PubMed ID: 29181713
    [Abstract] [Full Text] [Related]

  • 17. Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome.
    Miura K, Kaneko N, Hashimoto T, Ishizuka K, Shirai Y, Hisano M, Chikamoto H, Akioka Y, Kanda S, Harita Y, Yamamoto T, Hattori M.
    Pediatr Nephrol; 2023 Feb 01; 38(2):417-429. PubMed ID: 35655039
    [Abstract] [Full Text] [Related]

  • 18. Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome.
    Cheng X, Chen J, Yang X, Chan H, Yang X, Jiao J, Wang A, Zhang G, Chen X, Li X, Wang M, Yang B, Yang H, Li Q.
    Ital J Pediatr; 2024 Apr 23; 50(1):85. PubMed ID: 38654395
    [Abstract] [Full Text] [Related]

  • 19. Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
    Tasic V, Gucev Z, Polenakovic M.
    Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2015 Apr 23; 36(3):5-12. PubMed ID: 27442391
    [Abstract] [Full Text] [Related]

  • 20. Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre Study.
    Zhang L, Zhao F, Ding G, Chen Y, Zhao S, Chen Q, Sha Y, Che R, Huang S, Zheng B, Zhang A.
    Kidney Dis (Basel); 2024 Feb 23; 10(1):61-68. PubMed ID: 38322629
    [Abstract] [Full Text] [Related]

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