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462 related items for PubMed ID: 15595939

  • 1. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
    Ali M, Girimaji SC, Markandaya M, Shukla AK, Sacchidanand S, Kumar A.
    Acta Neurol Scand; 2005 Jan; 111(1):54-63. PubMed ID: 15595939
    [Abstract] [Full Text] [Related]

  • 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 Jan; 14(5):412-22. PubMed ID: 10533067
    [Abstract] [Full Text] [Related]

  • 3. 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 Jan; 14(5):401-11. PubMed ID: 10533066
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  • 6. Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14.
    Sasongko TH, Wataya-Kaneda M, Koterazawa K, Gunadi, Yusoff S, Harahap IS, Lee MJ, Matsuo M, Nishio H.
    Kobe J Med Sci; 2008 May 23; 54(1):E73-81. PubMed ID: 18772611
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 18; 13(6):731-41. PubMed ID: 15798777
    [Abstract] [Full Text] [Related]

  • 11. Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
    Feng JH, Yamamoto T, Nanba E, Ninomiya H, Oka A, Ohno K.
    Hum Mutat; 2004 Apr 18; 23(4):397. PubMed ID: 15024740
    [Abstract] [Full Text] [Related]

  • 12. 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 Apr 18; 47(1):20-8. PubMed ID: 11829138
    [Abstract] [Full Text] [Related]

  • 13. 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 Apr 18; 44(6):391-6. PubMed ID: 10570911
    [Abstract] [Full Text] [Related]

  • 14. Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.
    Jobert S, Bragado-Nilsson E, Samolyk D, Pedespan JM, Marchal C, Reichert S, Mallet J, Pitiot G.
    Eur J Hum Genet; 1997 Apr 18; 5(5):280-7. PubMed ID: 9412784
    [Abstract] [Full Text] [Related]

  • 15. Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
    Goedbloed MA, Nellist M, Verhaaf B, Reuser AJ, Lindhout D, Sunde L, Verhoef S, Halley DJ, van den Ouweland AM.
    Eur J Hum Genet; 2001 Nov 18; 9(11):823-8. PubMed ID: 11781698
    [Abstract] [Full Text] [Related]

  • 16. Prenatal molecular diagnosis of tuberous sclerosis complex.
    Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM.
    Am J Obstet Gynecol; 2009 Mar 18; 200(3):321.e1-6. PubMed ID: 19254590
    [Abstract] [Full Text] [Related]

  • 17. [Mutation screening and prenatal diagnosis of tuberous sclerosis complex].
    Li W, Zhou LH, Gao BD, Li LY, Zhong CG, Gong F, Xiao HM, Song T, Lu GX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug 18; 28(4):361-6. PubMed ID: 21811971
    [Abstract] [Full Text] [Related]

  • 18. Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.
    Rok P, Kasprzyk-Obara J, Domańska-Pakieła D, Jóźwiak S.
    Med Sci Monit; 2005 May 18; 11(5):CR230-234. PubMed ID: 15874888
    [Abstract] [Full Text] [Related]

  • 19. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.
    van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A.
    J Med Genet; 1999 Apr 18; 36(4):285-9. PubMed ID: 10227394
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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