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163 related items for PubMed ID: 11393540

  • 1. Single-nucleotide polymorphisms of the nuclear lamina proteome.
    Hegele RA, Yuen J, Cao H.
    J Hum Genet; 2001; 46(6):351-4. PubMed ID: 11393540
    [Abstract] [Full Text] [Related]

  • 2. Single nucleotide polymorphisms of the fukutin gene.
    Cao H, Yuen J, Hegele RA.
    J Hum Genet; 2001; 46(8):487-9. PubMed ID: 11501948
    [Abstract] [Full Text] [Related]

  • 3. Identification of polymorphisms in the human SHP1 gene.
    Cao H, Hegele RA.
    J Hum Genet; 2002; 47(8):445-7. PubMed ID: 12181644
    [Abstract] [Full Text] [Related]

  • 4. LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.
    Gaudy-Marqueste C, Roll P, Esteves-Vieira V, Weiller PJ, Grob JJ, Cau P, Lévy N, De Sandre-Giovannoli A.
    J Med Genet; 2010 Jun; 47(6):361-70. PubMed ID: 20522425
    [Abstract] [Full Text] [Related]

  • 5. Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome.
    Hegele RA.
    Mol Genet Metab; 2000 Dec; 71(4):539-44. PubMed ID: 11136544
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the LMNA gene encoding lamin A/C.
    Genschel J, Schmidt HH.
    Hum Mutat; 2000 Dec; 16(6):451-9. PubMed ID: 11102973
    [Abstract] [Full Text] [Related]

  • 7. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.
    Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB.
    Genomics; 1996 Mar 15; 32(3):474-8. PubMed ID: 8838815
    [Abstract] [Full Text] [Related]

  • 8. The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin.
    Holt I, Clements L, Manilal S, Brown SC, Morris GE.
    Eur J Hum Genet; 2001 Mar 15; 9(3):204-8. PubMed ID: 11313760
    [Abstract] [Full Text] [Related]

  • 9. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
    Hegele RA, Cao H, Anderson CM, Hramiak IM.
    J Clin Endocrinol Metab; 2000 Sep 15; 85(9):3431-5. PubMed ID: 10999845
    [Abstract] [Full Text] [Related]

  • 10. Pushing the envelope on lipodystrophy.
    Flier JS.
    Nat Genet; 2000 Feb 15; 24(2):103-4. PubMed ID: 10655047
    [Abstract] [Full Text] [Related]

  • 11. Subcutaneous abdominal adipocyte size, a predictor of type 2 diabetes, is linked to chromosome 1q21--q23 and is associated with a common polymorphism in LMNA in Pima Indians.
    Weyer C, Wolford JK, Hanson RL, Foley JE, Tataranni PA, Bogardus C, Pratley RE.
    Mol Genet Metab; 2001 Mar 15; 72(3):231-8. PubMed ID: 11243729
    [Abstract] [Full Text] [Related]

  • 12. Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.
    Broers JL, Kuijpers HJ, Ostlund C, Worman HJ, Endert J, Ramaekers FC.
    Exp Cell Res; 2005 Apr 01; 304(2):582-92. PubMed ID: 15748902
    [Abstract] [Full Text] [Related]

  • 13. Identification of single-nucleotide polymorphisms in the human LPIN1 gene.
    Cao H, Hegele RA.
    J Hum Genet; 2002 Apr 01; 47(7):370-2. PubMed ID: 12111372
    [Abstract] [Full Text] [Related]

  • 14. Identification and cloning of an mRNA coding for a germ cell-specific A-type lamin in mice.
    Furukawa K, Inagaki H, Hotta Y.
    Exp Cell Res; 1994 Jun 01; 212(2):426-30. PubMed ID: 8187835
    [Abstract] [Full Text] [Related]

  • 15. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.
    Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM.
    J Clin Endocrinol Metab; 2001 Jan 01; 86(1):59-65. PubMed ID: 11231979
    [Abstract] [Full Text] [Related]

  • 16. SNP identification, linkage and radiation hybrid mapping of the porcine lamin A/C (LMNA) gene to chromosome 4q.
    Wagenknecht D, Stratil A, Bartenschlager H, Van Poucke M, Peelman LJ, Majzlík I, Geldermann H.
    J Anim Breed Genet; 2006 Aug 01; 123(4):280-3. PubMed ID: 16882095
    [Abstract] [Full Text] [Related]

  • 17. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
    Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC.
    Nat Genet; 2000 Feb 01; 24(2):153-6. PubMed ID: 10655060
    [Abstract] [Full Text] [Related]

  • 18. Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.
    Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J.
    Diabetes; 2000 Nov 01; 49(11):1958-62. PubMed ID: 11078466
    [Abstract] [Full Text] [Related]

  • 19. Characterization of adiposity and metabolism in Lmna-deficient mice.
    Cutler DA, Sullivan T, Marcus-Samuels B, Stewart CL, Reitman ML.
    Biochem Biophys Res Commun; 2002 Mar 01; 291(3):522-7. PubMed ID: 11855819
    [Abstract] [Full Text] [Related]

  • 20. Components of the nuclear envelope and their role in human disease.
    Worman HJ.
    Novartis Found Symp; 2005 Mar 01; 264():35-42; discussion 42-50, 227-30. PubMed ID: 15773746
    [Abstract] [Full Text] [Related]

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