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Journal Abstract Search

183 related items for PubMed ID: 10571942

  • 1. 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; 14(6):459-65. PubMed ID: 10571942
    [Abstract] [Full Text] [Related]

  • 2. 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; 19(1):51-5. PubMed ID: 9590288
    [Abstract] [Full Text] [Related]

  • 3. 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; 57(6):783-8. PubMed ID: 15774843
    [Abstract] [Full Text] [Related]

  • 4. 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; 19(1):47-50. PubMed ID: 9590287
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 8. 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; 12(1):79-82. PubMed ID: 12792813
    [Abstract] [Full Text] [Related]

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

  • 10. 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; 13(3):330-5. PubMed ID: 15562281
    [Abstract] [Full Text] [Related]

  • 11. [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]

  • 12. 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]

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  • 14. 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]

  • 15. Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.
    Dunston JA, Lin S, Park JW, Malbroux M, McIntosh I.
    Ann Hum Genet; 2005 Jan 11; 69(Pt 1):1-8. PubMed ID: 15638822
    [Abstract] [Full Text] [Related]

  • 16. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.
    Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE.
    Hum Mol Genet; 1998 Jul 11; 7(7):1091-8. PubMed ID: 9618165
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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]

  • 19. [Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].
    Szczałuba K, Obersztyn E, Kozłowski K, Ravazzolo R, Gołabek B, Mazurczak T.
    Med Wieku Rozwoj; 2005 Sep 11; 9(2):195-203. PubMed ID: 16085960
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis of LMX1B gene in nail-patella syndrome patients.
    McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B.
    Am J Hum Genet; 1998 Dec 11; 63(6):1651-8. PubMed ID: 9837817
    [Abstract] [Full Text] [Related]

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