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Journal Abstract Search

193 related items for PubMed ID: 18414507

  • 1. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.
    Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV.
    Eur J Hum Genet; 2008 Oct; 16(10):1240-4. PubMed ID: 18414507
    [Abstract] [Full Text] [Related]

  • 2. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
    Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV.
    Eur J Hum Genet; 2005 Aug; 13(8):935-46. PubMed ID: 15928687
    [Abstract] [Full Text] [Related]

  • 3. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
    Clough MV, Hamlington JD, McIntosh I.
    Hum Mutat; 1999 Aug; 14(6):459-65. PubMed ID: 10571942
    [Abstract] [Full Text] [Related]

  • 4. Nail-patella syndrome. Overview on clinical and molecular findings.
    Bongers EM, Gubler MC, Knoers NV.
    Pediatr Nephrol; 2002 Sep; 17(9):703-12. PubMed ID: 12215822
    [Abstract] [Full Text] [Related]

  • 5. [From gene to disease; the nail-patella syndrome and the LMX1B gene].
    Bongers EM, Knoers NV.
    Ned Tijdschr Geneeskd; 2003 Jan 11; 147(2):67-9. PubMed ID: 12602071
    [Abstract] [Full Text] [Related]

  • 6. Functional characterization of LMX1B mutations associated with nail-patella syndrome.
    Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T.
    Pediatr Res; 2005 Jun 11; 57(6):783-8. PubMed ID: 15774843
    [Abstract] [Full Text] [Related]

  • 7. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.
    Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B.
    Nat Genet; 1998 May 11; 19(1):47-50. PubMed ID: 9590287
    [Abstract] [Full Text] [Related]

  • 8. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.
    Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL.
    Nat Genet; 1998 May 11; 19(1):51-5. PubMed ID: 9590288
    [Abstract] [Full Text] [Related]

  • 9. A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
    Dunston JA, Reimschisel T, Ding YQ, Sweeney E, Johnson RL, Chen ZF, McIntosh I.
    Eur J Hum Genet; 2005 Mar 11; 13(3):330-5. PubMed ID: 15562281
    [Abstract] [Full Text] [Related]

  • 10. LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye.
    Pressman CL, Chen H, Johnson RL.
    Genesis; 2000 Jan 11; 26(1):15-25. PubMed ID: 10660670
    [Abstract] [Full Text] [Related]

  • 11. Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
    Hamlington JD, Jones C, McIntosh I.
    Hum Mutat; 2001 Nov 11; 18(5):458. PubMed ID: 11668639
    [Abstract] [Full Text] [Related]

  • 12. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.
    Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R.
    Int J Mol Med; 2003 Jul 11; 12(1):79-82. PubMed ID: 12792813
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.
    Lin Y, Zhao J, Chen S, Zeng X, Du Q, Yang Y, Lu F, Pu Y, Yang Z.
    Bone; 2008 Sep 11; 43(3):591-5. PubMed ID: 18595794
    [Abstract] [Full Text] [Related]

  • 14. Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.
    Hamlington JD, Clough MV, Dunston JA, McIntosh I.
    Eur J Hum Genet; 2000 Apr 11; 8(4):311-4. PubMed ID: 10854116
    [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 11; 109(8):1073-82. PubMed ID: 11956245
    [Abstract] [Full Text] [Related]

  • 16. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
    Dunston JA, Hamlington JD, Zaveri J, Sweeney E, Sibbring J, Tran C, Malbroux M, O'Neill JP, Mountford R, McIntosh I.
    Genomics; 2004 Sep 11; 84(3):565-76. PubMed ID: 15498463
    [Abstract] [Full Text] [Related]

  • 17. A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.
    Jiang S, Zhang J, Huang D, Zhang Y, Liu X, Wang Y, He R, Zhao Y.
    Int J Mol Sci; 2014 Nov 05; 15(11):20158-68. PubMed ID: 25380522
    [Abstract] [Full Text] [Related]

  • 18. Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
    Marini M, Giacopelli F, Seri M, Ravazzolo R.
    Eur J Hum Genet; 2005 Jun 05; 13(6):789-92. PubMed ID: 15785774
    [Abstract] [Full Text] [Related]

  • 19. In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.
    Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC.
    Am J Pathol; 2003 Jul 05; 163(1):145-55. PubMed ID: 12819019
    [Abstract] [Full Text] [Related]

  • 20. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
    Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R.
    Genet Med; 2010 Jul 05; 12(7):431-9. PubMed ID: 20531206
    [Abstract] [Full Text] [Related]

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