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Journal Abstract Search

205 related items for PubMed ID: 27882743

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  • 25. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
    Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F, Gesselschaft für Paediatrische Nephrologie (GPN) Study Group.
    Nephrol Dial Transplant; 2010 Sep; 25(9):2970-6. PubMed ID: 20172850
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  • 26. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
    Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs NA, Joseph M, Hildebrandt F, Gesellschaft für Pädiatrische Nephrologie (GPN) Study Group.
    Nephron Clin Pract; 2012 Sep; 120(3):c139-46. PubMed ID: 22584503
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  • 27. [Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].
    Chu Y, Hou Q, Wu D, Lou G, Yang K, Guo L, Qi N, Duan X, Wang W, Qin L, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct 10; 36(10):1022-1024. PubMed ID: 31598951
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  • 30. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
    Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ.
    Gene; 2012 Jul 10; 502(2):133-7. PubMed ID: 22565185
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  • 31. [Analysis of a sib-pair with Finnish type congenital nephrotic syndrome due to variant of NPHS1 gene].
    Liu Z, Wang W, Zhang X, Fan S, Liu Y, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec 10; 37(12):1380-1383. PubMed ID: 33306827
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  • 37. A missense mutation in the nephrin gene impairs membrane targeting.
    Shimizu J, Tanaka H, Aya K, Ito S, Sado Y, Seino Y.
    Am J Kidney Dis; 2002 Oct 10; 40(4):697-703. PubMed ID: 12324903
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  • 39. Plasma exchange and retransplantation in recurrent nephrosis of patients with congenital nephrotic syndrome of the Finnish type (NPHS1).
    Kuusniemi AM, Qvist E, Sun Y, Patrakka J, Rönnholm K, Karikoski R, Jalanko H.
    Transplantation; 2007 May 27; 83(10):1316-23. PubMed ID: 17519780
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  • 40. Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.
    Li GM, Cao Q, Shen Q, Sun L, Zhai YH, Liu HM, An Y, Xu H.
    BMC Nephrol; 2018 Dec 29; 19(1):382. PubMed ID: 30594156
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