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Journal Abstract Search

197 related items for PubMed ID: 20803156

  • 1. Variable renal phenotype in a family with an INF2 mutation.
    Lee HK, Han KH, Jung YH, Kang HG, Moon KC, Ha IS, Choi Y, Cheong HI.
    Pediatr Nephrol; 2011 Jan; 26(1):73-6. PubMed ID: 20803156
    [Abstract] [Full Text] [Related]

  • 2. Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.
    Büscher AK, Celebi N, Hoyer PF, Klein HG, Weber S, Hoefele J.
    Pediatr Nephrol; 2018 Mar; 33(3):433-437. PubMed ID: 29038887
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.
    Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Tonna SJ, Uscinski AL, Higgs HN, Henderson JM, Pollak MR.
    Nat Genet; 2010 Jan; 42(1):72-6. PubMed ID: 20023659
    [Abstract] [Full Text] [Related]

  • 4. Novel mutations in the inverted formin 2 gene of Chinese families contribute to focal segmental glomerulosclerosis.
    Xie J, Hao X, Azeloglu EU, Ren H, Wang Z, Ma J, Liu J, Ma X, Wang W, Pan X, Zhang W, Zhong F, Li Y, Meng G, Kiryluk K, He JC, Gharavi AG, Chen N.
    Kidney Int; 2015 Sep; 88(3):593-604. PubMed ID: 26039629
    [Abstract] [Full Text] [Related]

  • 5. Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.
    Rood IM, Bongers EM, Lugtenberg D, Klein IH, Steenbergen EJ, Wetzels JF, Deegens JK.
    Neth J Med; 2016 Feb; 74(2):82-5. PubMed ID: 26951353
    [Abstract] [Full Text] [Related]

  • 6. Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.
    Safarikova M, Stekrova J, Honsova E, Horinova V, Tesar V, Reiterova J.
    BMC Med Genet; 2018 Aug 20; 19(1):147. PubMed ID: 30126379
    [Abstract] [Full Text] [Related]

  • 7. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.
    Gbadegesin RA, Lavin PJ, Hall G, Bartkowiak B, Homstad A, Jiang R, Wu G, Byrd A, Lynn K, Wolfish N, Ottati C, Stevens P, Howell D, Conlon P, Winn MP.
    Kidney Int; 2012 Jan 20; 81(1):94-9. PubMed ID: 21866090
    [Abstract] [Full Text] [Related]

  • 8. Mice with mutant Inf2 show impaired podocyte and slit diaphragm integrity in response to protamine-induced kidney injury.
    Subramanian B, Sun H, Yan P, Charoonratana VT, Higgs HN, Wang F, Lai KV, Valenzuela DM, Brown EJ, Schlöndorff JS, Pollak MR.
    Kidney Int; 2016 Aug 20; 90(2):363-372. PubMed ID: 27350175
    [Abstract] [Full Text] [Related]

  • 9. Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.
    Caridi G, Lugani F, Dagnino M, Gigante M, Iolascon A, Falco M, Graziano C, Benetti E, Dugo M, Del Prete D, Granata A, Borracelli D, Moggia E, Quaglia M, Rinaldi R, Gesualdo L, Ghiggeri GM.
    Nephrol Dial Transplant; 2014 Sep 20; 29 Suppl 4():iv80-6. PubMed ID: 25165188
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.
    Barua M, Brown EJ, Charoonratana VT, Genovese G, Sun H, Pollak MR.
    Kidney Int; 2013 Feb 20; 83(2):316-22. PubMed ID: 23014460
    [Abstract] [Full Text] [Related]

  • 11. Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin.
    Münch J, Grohmann M, Lindner TH, Bergmann C, Halbritter J.
    BMC Med Genet; 2016 Oct 12; 17(1):73. PubMed ID: 27733133
    [Abstract] [Full Text] [Related]

  • 12. Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
    Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S.
    Clin Nephrol; 2012 Jul 12; 78(1):47-53. PubMed ID: 22732337
    [Abstract] [Full Text] [Related]

  • 13. INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients.
    Jin S, Wang W, Wang R, Lv H, Zhang W, Wang Z, Jiao J, Yuan Y.
    Clin Neuropathol; 2015 Jul 12; 34(5):275-81. PubMed ID: 25943269
    [Abstract] [Full Text] [Related]

  • 14. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.
    Boyer O, Benoit G, Gribouval O, Nevo F, Tête MJ, Dantal J, Gilbert-Dussardier B, Touchard G, Karras A, Presne C, Grunfeld JP, Legendre C, Joly D, Rieu P, Mohsin N, Hannedouche T, Moal V, Gubler MC, Broutin I, Mollet G, Antignac C.
    J Am Soc Nephrol; 2011 Feb 12; 22(2):239-45. PubMed ID: 21258034
    [Abstract] [Full Text] [Related]

  • 15. Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
    Konomoto T, Imamura H, Orita M, Tanaka E, Moritake H, Sato Y, Fujimoto S, Harita Y, Hisano S, Yoshiura K, Nunoi H.
    Nephrology (Carlton); 2016 Sep 12; 21(9):765-73. PubMed ID: 26560070
    [Abstract] [Full Text] [Related]

  • 16. Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ α-1) and profilin 2.
    Rollason R, Wherlock M, Heath JA, Heesom KJ, Saleem MA, Welsh GI.
    Biosci Rep; 2016 Jan 13; 36(1):e00302. PubMed ID: 26764407
    [Abstract] [Full Text] [Related]

  • 17. A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Park HJ, Kim HJ, Hong YB, Nam SH, Chung KW, Choi BO.
    J Peripher Nerv Syst; 2014 Jun 13; 19(2):175-9. PubMed ID: 24750328
    [Abstract] [Full Text] [Related]

  • 18. Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.
    Laurin LP, Lu M, Mottl AK, Blyth ER, Poulton CJ, Weck KE.
    Nephrol Dial Transplant; 2014 Nov 13; 29(11):2062-9. PubMed ID: 24500309
    [Abstract] [Full Text] [Related]

  • 19. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
    Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G.
    N Engl J Med; 2011 Dec 22; 365(25):2377-88. PubMed ID: 22187985
    [Abstract] [Full Text] [Related]

  • 20. Reduced INF2 expression in nephrotic syndrome is possibly related to clinical severity of steroid resistance in children.
    Tamura H, Nakazato H, Kuraoka S, Yoneda K, Takahashi W, Endo F.
    Nephrology (Carlton); 2016 Jun 22; 21(6):467-75. PubMed ID: 26383224
    [Abstract] [Full Text] [Related]

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