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150 related items for PubMed ID: 15774843

  • 1. 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
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  • 3. 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
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  • 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
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  • 7. 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; 163(1):145-55. PubMed ID: 12819019
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  • 8. 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
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  • 9. 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; 7(7):1091-8. PubMed ID: 9618165
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  • 10. 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; 8(4):311-4. PubMed ID: 10854116
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  • 11. 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; 63(6):1651-8. PubMed ID: 9837817
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  • 12. 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
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  • 13. 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; 32(10):1845-1850. PubMed ID: 27450397
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  • 14. 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; 43(3):591-5. PubMed ID: 18595794
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  • 15. 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
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  • 16. 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
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  • 17. [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
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  • 18. Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/-) after unilateral nephrectomy.
    Endele S, Klein S, Richter S, Molter T, Amann K, Klanke B, Witzgall R, Johnson RL, Hilgers KF, Winterpacht A.
    Transgenic Res; 2007 Dec 11; 16(6):723-9. PubMed ID: 17657578
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  • 19. LMX1B transactivation and expression in nail-patella syndrome.
    Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B.
    Hum Mol Genet; 2000 Apr 12; 9(7):1067-74. PubMed ID: 10767331
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  • 20. [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 Apr 12; 9(2):195-203. PubMed ID: 16085960
    [Abstract] [Full Text] [Related]

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