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Journal Abstract Search

345 related items for PubMed ID: 12015247

  • 1. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
    Garg A, Speckman RA, Bowcock AM.
    Am J Med; 2002 May; 112(7):549-55. PubMed ID: 12015247
    [Abstract] [Full Text] [Related]

  • 2. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
    Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.
    N Engl J Med; 1999 Dec 02; 341(23):1715-24. PubMed ID: 10580070
    [Abstract] [Full Text] [Related]

  • 3. Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
    Subramanyam L, Simha V, Garg A.
    Clin Genet; 2010 Jul 02; 78(1):66-73. PubMed ID: 20041886
    [Abstract] [Full Text] [Related]

  • 4. 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 02; 66(4):1192-8. PubMed ID: 10739751
    [Abstract] [Full Text] [Related]

  • 5. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
    van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M.
    Neurology; 2002 Aug 27; 59(4):620-3. PubMed ID: 12196663
    [Abstract] [Full Text] [Related]

  • 6. Mutations in the LMNA gene encoding lamin A/C.
    Genschel J, Schmidt HH.
    Hum Mutat; 2000 Dec 27; 16(6):451-9. PubMed ID: 11102973
    [Abstract] [Full Text] [Related]

  • 7. 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 27; 7(3):249-56. PubMed ID: 11561226
    [Abstract] [Full Text] [Related]

  • 8. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
    Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.
    Am J Med Genet; 2001 Sep 01; 102(4):359-67. PubMed ID: 11503164
    [Abstract] [Full Text] [Related]

  • 9. Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
    Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW.
    J Hum Genet; 2002 Sep 01; 47(5):225-8. PubMed ID: 12032588
    [Abstract] [Full Text] [Related]

  • 10. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
    Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G.
    Neuromuscul Disord; 2001 Sep 01; 11(6-7):542-6. PubMed ID: 11525883
    [Abstract] [Full Text] [Related]

  • 11. Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
    Ostlund C, Bonne G, Schwartz K, Worman HJ.
    J Cell Sci; 2001 Dec 01; 114(Pt 24):4435-45. PubMed ID: 11792809
    [Abstract] [Full Text] [Related]

  • 12. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
    Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.
    Ann Neurol; 2000 Aug 01; 48(2):170-80. PubMed ID: 10939567
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
    Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K.
    Hum Mol Genet; 2000 May 22; 9(9):1453-9. PubMed ID: 10814726
    [Abstract] [Full Text] [Related]

  • 15. 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 22; 24(2):153-6. PubMed ID: 10655060
    [Abstract] [Full Text] [Related]

  • 16. 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 22; 85(9):3431-5. PubMed ID: 10999845
    [Abstract] [Full Text] [Related]

  • 17. 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 22; 9(3):204-8. PubMed ID: 11313760
    [Abstract] [Full Text] [Related]

  • 18. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
    Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G.
    Muscle Nerve; 2004 Oct 22; 30(4):444-50. PubMed ID: 15372542
    [Abstract] [Full Text] [Related]

  • 19. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.
    Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D.
    Pacing Clin Electrophysiol; 2000 Nov 22; 23(11 Pt 1):1661-6. PubMed ID: 11138304
    [Abstract] [Full Text] [Related]

  • 20. Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy.
    Favreau C, Dubosclard E, Ostlund C, Vigouroux C, Capeau J, Wehnert M, Higuet D, Worman HJ, Courvalin JC, Buendia B.
    Exp Cell Res; 2003 Jan 01; 282(1):14-23. PubMed ID: 12490190
    [Abstract] [Full Text] [Related]

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