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Journal Abstract Search

160 related items for PubMed ID: 9803264

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  • 2. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
    Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L.
    Hum Mutat; 1999; 14(5):412-22. PubMed ID: 10533067
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  • 4. Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.
    Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ.
    Ann Hum Genet; 1998 Jul; 62(Pt 4):277-85. PubMed ID: 9924605
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  • 7. Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
    Bénit P, Kara-Mostefa A, Hadj-Rabia S, Munnich A, Bonnefont JP.
    Hum Mutat; 1999 Jul; 14(5):428-32. PubMed ID: 10533069
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  • 9. Mutation spectrum of the 9q34 tuberous sclerosis gene TSC1 in transitional cell carcinoma of the bladder.
    Knowles MA, Habuchi T, Kennedy W, Cuthbert-Heavens D.
    Cancer Res; 2003 Nov 15; 63(22):7652-6. PubMed ID: 14633685
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  • 10. Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.
    Zhang H, Nanba E, Yamamoto T, Ninomiya H, Ohno K, Mizuguchi M, Takeshita K.
    J Hum Genet; 1999 Nov 15; 44(6):391-6. PubMed ID: 10570911
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  • 11. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
    Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-Kievit A, Zonnenberg B, Verhoef S, Halley D, van den Ouweland A.
    Eur J Hum Genet; 2005 Jun 15; 13(6):731-41. PubMed ID: 15798777
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  • 12. Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
    Choi JE, Chae JH, Hwang YS, Kim KJ.
    Brain Dev; 2006 Aug 15; 28(7):440-6. PubMed ID: 16554133
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  • 15. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
    Langkau N, Martin N, Brandt R, Zügge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, Zimmerhackl LB, Janssen B.
    Eur J Pediatr; 2002 Jul 15; 161(7):393-402. PubMed ID: 12111193
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  • 19. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
    Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O.
    J Hum Genet; 2002 Jul 15; 47(1):20-8. PubMed ID: 11829138
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  • 20. Isolation and characterization of a rat homologue of the human tuberous sclerosis 1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas.
    Satake N, Kobayashi T, Kobayashi E, Izumi K, Hino O.
    Cancer Res; 1999 Feb 15; 59(4):849-55. PubMed ID: 10029074
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