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Journal Abstract Search

173 related items for PubMed ID: 33814499

  • 1. A Novel Mutation in LMX1B (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype.
    Oe Y, Mishima E, Mori T, Okamoto K, Honkura Y, Nagasawa T, Yoshida M, Sato H, Suzuki J, Ikeda R, Sohara E, Uchida S, Katori Y, Miyazaki M.
    Intern Med; 2021 Sep 15; 60(18):2991-2996. PubMed ID: 33814499
    [Abstract] [Full Text] [Related]

  • 2. A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.
    Morimoto N, Nagahama K, Mori T, Fujimaru T, Tsuura Y, Terai A, Tanabe M, Otani M, Shioji S, Hirasawa S, Aki S, Aoyagi M, Sohara E, Uchida S, Tanaka H.
    Nephron; 2021 Sep 15; 145(6):776-782. PubMed ID: 34515165
    [Abstract] [Full Text] [Related]

  • 3. 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 15; 21(9):765-73. PubMed ID: 26560070
    [Abstract] [Full Text] [Related]

  • 4. Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
    Li X, Fan J, Fu R, Peng M, He J, Chen Q, Wang S, Chen C.
    Medicine (Baltimore); 2024 Mar 08; 103(10):e37442. PubMed ID: 38457557
    [Abstract] [Full Text] [Related]

  • 5. LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
    Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S.
    Nephrol Dial Transplant; 2014 Jan 08; 29(1):81-8. PubMed ID: 24042019
    [Abstract] [Full Text] [Related]

  • 6. Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
    Harita Y, Urae S, Akashio R, Isojima T, Miura K, Yamada T, Yamamoto K, Miyasaka Y, Furuyama M, Takemura T, Gotoh Y, Takizawa H, Tamagaki K, Ozawa A, Ashida A, Hattori M, Oka A, Kitanaka S.
    Eur J Hum Genet; 2020 Oct 08; 28(10):1414-1421. PubMed ID: 32457516
    [Abstract] [Full Text] [Related]

  • 7. Refractory focal segmental glomerulosclerosis caused by Alport syndrome detected by genetic testing after three decades.
    Oda Y, Sawa N, Nozu K, Ubara Y.
    BMJ Case Rep; 2022 Mar 14; 15(3):. PubMed ID: 35288428
    [Abstract] [Full Text] [Related]

  • 8. LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
    Andeen NK, Schleit J, Blosser CD, Dorschner MO, Hisama FM, Smith KD.
    Am J Kidney Dis; 2018 Aug 14; 72(2):296-301. PubMed ID: 29246420
    [Abstract] [Full Text] [Related]

  • 9. LMX1B mutations cause hereditary FSGS without extrarenal involvement.
    Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C.
    J Am Soc Nephrol; 2013 Jul 14; 24(8):1216-22. PubMed ID: 23687361
    [Abstract] [Full Text] [Related]

  • 10. LMX1B-associated nephropathy that showed myelin figures on electron microscopy.
    Shimohata H, Miyake Y, Yoshida Y, Usui J, Mori T, Sohara E, Uchida S, Hirayama K, Kobayashi M.
    CEN Case Rep; 2021 Nov 14; 10(4):588-591. PubMed ID: 34076843
    [Abstract] [Full Text] [Related]

  • 11. Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
    Nakata T, Ishida R, Mihara Y, Fujii A, Inoue Y, Kusaba T, Isojima T, Harita Y, Kanda C, Kitanaka S, Tamagaki K.
    BMC Nephrol; 2017 Mar 23; 18(1):100. PubMed ID: 28335748
    [Abstract] [Full Text] [Related]

  • 12. Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.
    Hall G, Lane B, Chryst-Ladd M, Wu G, Lin JJ, Qin X, Hauser ER, Gbadegesin R.
    Sci Rep; 2017 Jan 06; 7():39933. PubMed ID: 28059119
    [Abstract] [Full Text] [Related]

  • 13. Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant.
    Yamada Y, Yokoyama H, Kinoshita R, Kitamoto K, Kawaba Y, Okada S, Horie T, Nagano C, Nozu K, Namba N.
    CEN Case Rep; 2024 Jun 06; 13(3):204-208. PubMed ID: 37897632
    [Abstract] [Full Text] [Related]

  • 14. Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
    Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M.
    Pediatr Nephrol; 2017 Oct 06; 32(10):1845-1850. PubMed ID: 27450397
    [Abstract] [Full Text] [Related]

  • 15. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
    Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson RL, Antignac C, Witzgall R.
    J Clin Invest; 2002 Apr 06; 109(8):1073-82. PubMed ID: 11956245
    [Abstract] [Full Text] [Related]

  • 16. An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.
    Kopp JB.
    J Am Soc Nephrol; 2013 Jul 06; 24(8):1183-5. PubMed ID: 23868926
    [No Abstract] [Full Text] [Related]

  • 17. Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report.
    Pinto E Vairo F, Pichurin PN, Fervenza FC, Nasr SH, Mills K, Schmitz CT, Klee EW, Herrmann SM.
    BMC Nephrol; 2020 Aug 13; 21(1):341. PubMed ID: 32791958
    [Abstract] [Full Text] [Related]

  • 18. A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
    Ham JH, Shin SJ, Joo KR, Park SM, Sung HY, Kim JS, Choi JS, Choi YJ, Song HC, Choi EJ.
    Korean J Intern Med; 2009 Sep 13; 24(3):274-8. PubMed ID: 19721866
    [Abstract] [Full Text] [Related]

  • 19. COL4A5 mutation causes Alport syndrome with focal segmental glomerulosclerosis lesion: Case report and literature review
.
    Zhang P, Zhuo L, Zou Y, Li G, Peng K.
    Clin Nephrol; 2019 Aug 13; 92(2):98-102. PubMed ID: 31198170
    [Abstract] [Full Text] [Related]

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