BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

327 related articles for article (PubMed ID: 18772611)

  • 1. 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; 54(1):E73-81. PubMed ID: 18772611
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 28(7):440-6. PubMed ID: 16554133
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
    Rendtorff ND; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
    Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 14(5):401-11. PubMed ID: 10533066
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 12(6):408-16. PubMed ID: 9829910
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 36(4):285-9. PubMed ID: 10227394
    [TBL] [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; 7():72. PubMed ID: 16981987
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 12. 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; 23(4):397. PubMed ID: 15024740
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 90(2):123-6. PubMed ID: 10607950
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE.
    Hass J; Mayer K; Rott HD
    Hum Mutat; 2000 Jul; 16(1):88. PubMed ID: 10874311
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 5(5):280-7. PubMed ID: 9412784
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 11(5):CR230-234. PubMed ID: 15874888
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [DNA diagnosis in Czech patients with tuberous sclerosis].
    Vrtĕl R; Santavá A; Santavý J; Polák P; Krejciríková E
    Cas Lek Cesk; 2000 Apr; 139(7):203-7. PubMed ID: 10916206
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
    Hoogeveen-Westerveld M; Ekong R; Povey S; Karbassi I; Batish SD; den Dunnen JT; van Eeghen A; Thiele E; Mayer K; Dies K; Wen L; Thompson C; Sparagana SP; Davies P; Aalfs C; van den Ouweland A; Halley D; Nellist M
    Hum Mutat; 2012 Mar; 33(3):476-9. PubMed ID: 22161988
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Unusual radiological presentation of tuberous sclerosis complex with leptomeningeal angiomatosis associated with a hypomorphic mutation in the TSC2 gene.
    Ramantani G; Niggemann P; Hahn G; Näke A; Fahsold R; Lee-Kirsch MA
    J Child Neurol; 2009 Mar; 24(3):333-7. PubMed ID: 19258292
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 17.