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151 related items for PubMed ID: 19194555

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 58(11):1211-1215. PubMed ID: 27882743
    [Abstract] [Full Text] [Related]

  • 3. 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; 23(11):3527-33. PubMed ID: 18503012
    [Abstract] [Full Text] [Related]

  • 4. Three Novel Heterozygous Mutations of NPHS1 Gene Causing Infants with Congenital Nephrotic Syndrome: Two Chinese (Han) Cases.
    Lv H, Liu F, Wang Q, Dong Z, Ren P, Zhang H, Yan X, Li L.
    Clin Lab; 2023 Aug 01; 69(8):. PubMed ID: 37560858
    [Abstract] [Full Text] [Related]

  • 5. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
    Beltcheva O, Martin P, Lenkkeri U, Tryggvason K.
    Hum Mutat; 2001 May 01; 17(5):368-73. PubMed ID: 11317351
    [Abstract] [Full Text] [Related]

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

  • 7. 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 18; 21(9):753-7. PubMed ID: 26560236
    [Abstract] [Full Text] [Related]

  • 8. 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 Sep 18; 15(6):696-702. PubMed ID: 12495287
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
    Nguyen TK, Pham VD, Nguyen TH, Pham TK, Nguyen TQ, Nguyen HH.
    Case Rep Genet; 2017 Feb 15; 2017():2357282. PubMed ID: 28392951
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 25(5):407-10. PubMed ID: 15906409
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 23(8):1058-1065. PubMed ID: 30963316
    [Abstract] [Full Text] [Related]

  • 13. [A Case of Congenital Nephrotic Syndrome of the Finnish Type].
    Zhou Y, Chen Q, Huang X, Yang LM, Chen J.
    Sichuan Da Xue Xue Bao Yi Xue Ban; 2020 Nov 15; 51(6):881-884. PubMed ID: 33236617
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
    Uysal B, Dönmez O, Uysal F, Akacı O, Vuruşkan BA, Berdeli A.
    Pediatr Int; 2015 Sep 15; 57(1):177-9. PubMed ID: 25711261
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 120(3):c139-46. PubMed ID: 22584503
    [Abstract] [Full Text] [Related]

  • 17. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
    Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tête MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C.
    J Am Soc Nephrol; 2008 Oct 15; 19(10):1871-8. PubMed ID: 18614772
    [Abstract] [Full Text] [Related]

  • 18. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
    Machuca E, Benoit G, Nevo F, Tête MJ, Gribouval O, Pawtowski A, Brandström P, Loirat C, Niaudet P, Gubler MC, Antignac C.
    J Am Soc Nephrol; 2010 Jul 15; 21(7):1209-17. PubMed ID: 20507940
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 15; 25(9):2970-6. PubMed ID: 20172850
    [Abstract] [Full Text] [Related]

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