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Journal Abstract Search

75 related items for PubMed ID: 11501948

  • 1. 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]

  • 2. 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]

  • 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]

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  • 6. 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; 24(2):153-6. PubMed ID: 10655060
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  • 8. 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]

  • 9. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
    Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T.
    Nature; 1998 Jul 23; 394(6691):388-92. PubMed ID: 9690476
    [Abstract] [Full Text] [Related]

  • 10. [Hint and luck for identification of a gene for Fukuyama muscular dystrophy, fukutin].
    Toda T.
    Rinsho Shinkeigaku; 2007 Nov 23; 47(11):743-8. PubMed ID: 18210789
    [Abstract] [Full Text] [Related]

  • 11. Single nucleotide polymorphisms of the resistin (RSTN) gene.
    Cao H, Hegele RA.
    J Hum Genet; 2001 Nov 23; 46(9):553-5. PubMed ID: 11558907
    [Abstract] [Full Text] [Related]

  • 12. Single nucleotide polymorphisms of RXRA encoding retinoid X receptor alpha.
    Hegele RA, Cao H.
    J Hum Genet; 2001 Nov 23; 46(7):423-5. PubMed ID: 11450851
    [Abstract] [Full Text] [Related]

  • 13. [The laminopathy saga].
    Bonne G.
    Rev Neurol; 2001 Nov 23; 37(8):772-4. PubMed ID: 14593639
    [Abstract] [Full Text] [Related]

  • 14. The laminopathies: a clinical review.
    Rankin J, Ellard S.
    Clin Genet; 2006 Oct 23; 70(4):261-74. PubMed ID: 16965317
    [Abstract] [Full Text] [Related]

  • 15. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
    Cao H, Hegele RA.
    Hum Mol Genet; 2000 Jan 01; 9(1):109-12. PubMed ID: 10587585
    [Abstract] [Full Text] [Related]

  • 16. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
    Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM.
    Am J Hum Genet; 2000 Apr 01; 66(4):1192-8. PubMed ID: 10739751
    [Abstract] [Full Text] [Related]

  • 17. Single nucleotide polymorphisms of the very low density lipoprotein receptor (VLDLR) gene.
    Near SE, Wang J, Hegele RA.
    J Hum Genet; 2001 Apr 01; 46(8):490-3. PubMed ID: 11501949
    [Abstract] [Full Text] [Related]

  • 18. Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings.
    Raygada M, Rennert O.
    Clin Genet; 2005 Jan 01; 67(1):98-101. PubMed ID: 15617555
    [Abstract] [Full Text] [Related]

  • 19. [Fukuyama-type congenital muscular dystrophy].
    Toda T.
    Rinsho Shinkeigaku; 2000 Dec 01; 40(12):1297-9. PubMed ID: 11464484
    [Abstract] [Full Text] [Related]

  • 20. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.
    Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE.
    J Card Fail; 2001 Sep 01; 7(3):249-56. PubMed ID: 11561226
    [Abstract] [Full Text] [Related]

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