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Journal Abstract Search

286 related items for PubMed ID: 12111193

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  • 2. 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; 13(6):731-41. PubMed ID: 15798777
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  • 3. 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 Jun; 14(5):412-22. PubMed ID: 10533067
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  • 5. Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
    Mayer K, Ballhausen W, Rott HD.
    Hum Mutat; 1999 Jun; 14(5):401-11. PubMed ID: 10533066
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  • 6. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
    Hung CC, Su YN, Chien SC, Liou HH, Chen CC, Chen PC, Hsieh CJ, Chen CP, Lee WT, Lin WL, Lee CN.
    BMC Med Genet; 2006 Sep 18; 7():72. PubMed ID: 16981987
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  • 7. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
    Yamashita Y, Ono J, Okada S, Wataya-Kaneda M, Yoshikawa K, Nishizawa M, Hirayama Y, Kobayashi E, Seyama K, Hino O.
    Am J Med Genet; 2000 Jan 17; 90(2):123-6. PubMed ID: 10607950
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  • 9. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
    Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V.
    Hum Mutat; 1998 Jan 17; 12(6):408-16. PubMed ID: 9829910
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  • 12. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.
    Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP.
    Am J Hum Genet; 1999 May 17; 64(5):1305-15. PubMed ID: 10205261
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  • 14. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
    Jansen FE, Braams O, Vincken KL, Algra A, Anbeek P, Jennekens-Schinkel A, Halley D, Zonnenberg BA, van den Ouweland A, van Huffelen AC, van Nieuwenhuizen O, Nellist M.
    Neurology; 2008 Mar 18; 70(12):908-15. PubMed ID: 18032745
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  • 15. [Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism].
    Feng JH, Ding MP, Yang CW.
    Zhonghua Er Ke Za Zhi; 2003 Mar 18; 41(3):223-6. PubMed ID: 14756965
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  • 19. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
    Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.
    Am J Hum Genet; 2001 Jan 18; 68(1):64-80. PubMed ID: 11112665
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  • 20. Mutation analysis of TSC2 gene in 33 Turkish familial cases with tuberous sclerosis.
    Apak A, Haliloğlu G, Köse G, Yilmaz E, Anlar B, Aysun S.
    Turk J Pediatr; 2003 Jan 18; 45(1):1-5. PubMed ID: 12718362
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