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Journal Abstract Search

132 related items for PubMed ID: 33236617

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  • 3. Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
    Lee BH, Ahn YH, Choi HJ, Kang HK, Kim SD, Cho BS, Moon KC, Ha IS, Cheong HI, Choi Y.
    J Korean Med Sci; 2009 Jan; 24 Suppl(Suppl 1):S210-4. PubMed ID: 19194555
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  • 4. [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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  • 6. Congenital Nephrotic Syndrome - Finish Type.
    Spahiu L, Merovci B, Jashari H, Këpuska AB, Rugova BE.
    Med Arch; 2016 Jun 10; 70(3):232-4. PubMed ID: 27594755
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  • 7. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
    Patrakka J, Kestilä M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Männikkö M, Visapää I, Holmberg C, Rapola J, Tryggvason K, Jalanko H.
    Kidney Int; 2000 Sep 10; 58(3):972-80. PubMed ID: 10972661
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  • 8. Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
    Wu LQ, Hu JJ, Xue JJ, Liang DS.
    Genet Mol Res; 2011 Oct 18; 10(4):2517-22. PubMed ID: 22009864
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  • 9. Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type.
    Nishi K, Inoguchi T, Kamei K, Hamada R, Hataya H, Ogura M, Sato M, Yoshioka T, Ogata K, Ito S, Nakanishi K, Nozu K, Hamasaki Y, Ishikura K.
    Clin Exp Nephrol; 2019 Aug 18; 23(8):1058-1065. PubMed ID: 30963316
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  • 11. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
    Heeringa SF, Vlangos CN, Chernin G, Hinkes B, Gbadegesin R, Liu J, Hoskins BE, Ozaltin F, Hildebrandt F, Members of the APN Study Group.
    Nephrol Dial Transplant; 2008 Nov 18; 23(11):3527-33. PubMed ID: 18503012
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  • 13. [NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
    Shi Y, Ding J, Liu JC, Wang H, Bu DF.
    Zhonghua Er Ke Za Zhi; 2005 Nov 18; 43(11):805-9. PubMed ID: 16316524
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  • 14. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
    Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P.
    Hum Mol Genet; 2002 Feb 15; 11(4):379-88. PubMed ID: 11854170
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  • 15. A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.
    Xie D, Wu J, Zhang W, Jin T, Wu P, An B, Huang S.
    Medicine (Baltimore); 2023 Feb 17; 102(7):e32970. PubMed ID: 36800604
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  • 16. Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family.
    Gigante M, Greco P, Defazio V, Lucci M, Margaglione M, Gesualdo L, Iolascon A.
    Prenat Diagn; 2005 May 17; 25(5):407-10. PubMed ID: 15906409
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  • 19. Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome.
    Yu ZH, Wang DJ, Meng DC, Huang J, Nie XJ.
    Genet Mol Res; 2012 May 18; 11(2):1460-4. PubMed ID: 22653594
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