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285 related items for PubMed ID: 23014460

  • 1. 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; 83(2):316-22. PubMed ID: 23014460
    [Abstract] [Full Text] [Related]

  • 2. 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; 81(1):94-9. PubMed ID: 21866090
    [Abstract] [Full Text] [Related]

  • 3. Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
    Zhang Q, Ma J, Xie J, Wang Z, Zhu B, Hao X, Yang L, Ren H, Chen N.
    Contrib Nephrol; 2013 Jan; 181():91-100. PubMed ID: 23689571
    [Abstract] [Full Text] [Related]

  • 4. 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; 22(2):239-45. PubMed ID: 21258034
    [Abstract] [Full Text] [Related]

  • 5. TRPC6 and FSGS: the latest TRP channelopathy.
    Mukerji N, Damodaran TV, Winn MP.
    Biochim Biophys Acta; 2007 Aug; 1772(8):859-68. PubMed ID: 17459670
    [Abstract] [Full Text] [Related]

  • 6. Focal segmental glomerulosclerosis: molecular genetics and targeted therapies.
    Chen YM, Liapis H.
    BMC Nephrol; 2015 Jul 09; 16():101. PubMed ID: 26156092
    [Abstract] [Full Text] [Related]

  • 7. 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 09; 33(3):433-437. PubMed ID: 29038887
    [Abstract] [Full Text] [Related]

  • 8. Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
    Nandlal L, Winkler CA, Bhimma R, Cho S, Nelson GW, Haripershad S, Naicker T.
    Eur J Pediatr; 2022 Oct 09; 181(10):3595-3606. PubMed ID: 35920919
    [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 09; 29 Suppl 4():iv80-6. PubMed ID: 25165188
    [Abstract] [Full Text] [Related]

  • 10. 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 09; 42(1):72-6. PubMed ID: 20023659
    [Abstract] [Full Text] [Related]

  • 11. 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 09; 19(2):175-9. PubMed ID: 24750328
    [Abstract] [Full Text] [Related]

  • 12. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.
    Sanchez-Ares M, Garcia-Vidal M, Antucho EE, Julio P, Eduardo VM, Lens XM, Garcia-Gonzalez MA.
    Kidney Int; 2013 Jan 09; 83(1):153-9. PubMed ID: 22971997
    [Abstract] [Full Text] [Related]

  • 13. Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
    Bullich G, Trujillano D, Santín S, Ossowski S, Mendizábal S, Fraga G, Madrid Á, Ariceta G, Ballarín J, Torra R, Estivill X, Ars E.
    Eur J Hum Genet; 2015 Sep 09; 23(9):1192-9. PubMed ID: 25407002
    [Abstract] [Full Text] [Related]

  • 14. Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.
    Weins A, Kenlan P, Herbert S, Le TC, Villegas I, Kaplan BS, Appel GB, Pollak MR.
    J Am Soc Nephrol; 2005 Dec 09; 16(12):3694-701. PubMed ID: 16251236
    [Abstract] [Full Text] [Related]

  • 15. Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis.
    Komatsuda A, Wakui H, Maki N, Kigawa A, Goto H, Ohtani H, Hamai K, Oyama Y, Makoto H, Sawada K, Imai H.
    Ren Fail; 2003 Jan 09; 25(1):87-93. PubMed ID: 12617336
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 20; 26(1):73-6. PubMed ID: 20803156
    [Abstract] [Full Text] [Related]

  • 18. 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 20; 88(3):593-604. PubMed ID: 26039629
    [Abstract] [Full Text] [Related]

  • 19. INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
    Park JH, Kwon HM, Nam DE, Kim HJ, Nam SH, Kim SB, Choi BO, Chung KW.
    J Peripher Nerv Syst; 2023 Mar 20; 28(1):108-118. PubMed ID: 36637069
    [Abstract] [Full Text] [Related]

  • 20. Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis.
    Aucella F, De Bonis P, Gatta G, Muscarella LA, Vigilante M, di Giorgio G, D'Errico M, Zelante L, Stallone C, Bisceglia L.
    Nephron Clin Pract; 2005 Mar 20; 99(2):c31-6. PubMed ID: 15627790
    [Abstract] [Full Text] [Related]

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