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Journal Abstract Search

128 related items for PubMed ID: 15906409

  • 1. 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; 25(5):407-10. PubMed ID: 15906409
    [Abstract] [Full Text] [Related]

  • 2. Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.
    Gigante M, Monno F, Roberto R, Laforgia N, Assael MB, Livolti S, Caringella A, La Manna A, Masella L, Iolascon A.
    J Nephrol; 2002 May; 15(6):696-702. PubMed ID: 12495287
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 4. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
    Beltcheva O, Martin P, Lenkkeri U, Tryggvason K.
    Hum Mutat; 2001 May 18; 17(5):368-73. PubMed ID: 11317351
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  • 5. Congenital nephrotic syndrome with a novel NPHS1 mutation.
    Yoshizawa C, Kobayashi Y, Ikeuchi Y, Tashiro M, Kakegawa S, Watanabe T, Goto Y, Nakanishi K, Yoshikawa N, Arakawa H.
    Pediatr Int; 2016 Nov 18; 58(11):1211-1215. PubMed ID: 27882743
    [Abstract] [Full Text] [Related]

  • 6. [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
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 24 Suppl(Suppl 1):S210-4. PubMed ID: 19194555
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community.
    Frishberg Y, Ben-Neriah Z, Suvanto M, Rinat C, Männikkö M, Feinstein S, Becker-Cohen R, Jalanko H, Zlotogora J, Kestilä M.
    Genet Med; 2007 Mar 15; 9(3):180-4. PubMed ID: 17413422
    [Abstract] [Full Text] [Related]

  • 10. Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis.
    Männikkö M, Kestilä M, Lenkkeri U, Alakurtti H, Holmberg C, Leisti J, Salonen R, Aula P, Mustonen A, Peltonen L, Tryggvason K.
    Kidney Int; 1997 Mar 15; 51(3):868-72. PubMed ID: 9067923
    [Abstract] [Full Text] [Related]

  • 11. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
    Lenkkeri U, Männikkö M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac C K, Kashtan CE, Homberg C, Olsen A, Kestilä M, Tryggvason K.
    Am J Hum Genet; 1999 Jan 15; 64(1):51-61. PubMed ID: 9915943
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 58(3):972-80. PubMed ID: 10972661
    [Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis of congenital nephrotic syndrome of the Finnish type in a Chinese family.
    Gu Y, Han B, Zhu X, Chen Y.
    Taiwan J Obstet Gynecol; 2021 Jul 15; 60(4):758-762. PubMed ID: 34247820
    [Abstract] [Full Text] [Related]

  • 14. [Genetic heterogeneity and pathology of congenital nephrotic syndrome and its significance in prenatal diagnosis].
    Braga S, Moser H, Zimmermann A, Oetliker O.
    J Genet Hum; 1985 Jun 15; 33(2):153-6. PubMed ID: 2410560
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  • 15. Congenital nephrotic syndrome: clinico-pathological heterogeneity and prenatal diagnosis.
    Schneller M, Braga SE, Moser H, Zimmermann A, Oetliker O.
    Clin Nephrol; 1983 May 15; 19(5):243-9. PubMed ID: 6851264
    [Abstract] [Full Text] [Related]

  • 16. NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
    Guaragna MS, Cleto TL, Souza ML, Lutaif AC, de Castro LC, Penido MG, Maciel-Guerra AT, Belangero VM, Guerra-Junior G, De Mello MP.
    Nephrology (Carlton); 2016 Sep 15; 21(9):753-7. PubMed ID: 26560236
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  • 18. 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 15; 23(11):3527-33. PubMed ID: 18503012
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  • 19. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
    Liu L, Doné SC, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren PO, Tryggvason K.
    Hum Mol Genet; 2001 Nov 01; 10(23):2637-44. PubMed ID: 11726550
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