BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 21332470)

  • 1. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
    Wentink M; Nellist M; Hoogeveen-Westerveld M; Zonnenberg B; van der Kolk D; van Essen T; Park SM; Woods G; Cohn-Hokke P; Brussel W; Smeets E; Brooks A; Halley D; van den Ouweland A; Maat-Kievit A
    Clin Genet; 2012 May; 81(5):453-61. PubMed ID: 21332470
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Missense mutations to the TSC1 gene cause tuberous sclerosis complex.
    Nellist M; van den Heuvel D; Schluep D; Exalto C; Goedbloed M; Maat-Kievit A; van Essen T; van Spaendonck-Zwarts K; Jansen F; Helderman P; Bartalini G; Vierimaa O; Penttinen M; van den Ende J; van den Ouweland A; Halley D
    Eur J Hum Genet; 2009 Mar; 17(3):319-28. PubMed ID: 18830229
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
    Hoogeveen-Westerveld M; Ekong R; Povey S; Mayer K; Lannoy N; Elmslie F; Bebin M; Dies K; Thompson C; Sparagana SP; Davies P; van Eeghen AM; Thiele EA; van den Ouweland A; Halley D; Nellist M
    Hum Mutat; 2013 Jan; 34(1):167-75. PubMed ID: 22903760
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
    Hoogeveen-Westerveld M; Wentink M; van den Heuvel D; Mozaffari M; Ekong R; Povey S; den Dunnen JT; Metcalfe K; Vallee S; Krueger S; Bergoffen J; Shashi V; Elmslie F; Kwiatkowski D; Sampson J; Vidales C; Dzarir J; Garcia-Planells J; Dies K; Maat-Kievit A; van den Ouweland A; Halley D; Nellist M
    Hum Mutat; 2011 Apr; 32(4):424-35. PubMed ID: 21309039
    [TBL] [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; 13(6):731-41. PubMed ID: 15798777
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.
    Uhlmann EJ; Apicelli AJ; Baldwin RL; Burke SP; Bajenaru ML; Onda H; Kwiatkowski D; Gutmann DH
    Oncogene; 2002 Jun; 21(25):4050-9. PubMed ID: 12037687
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Enhanced episodic-like memory and kindling epilepsy in a rat model of tuberous sclerosis.
    Waltereit R; Welzl H; Dichgans J; Lipp HP; Schmidt WJ; Weller M
    J Neurochem; 2006 Jan; 96(2):407-13. PubMed ID: 16300636
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 161(7):393-402. PubMed ID: 12111193
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.
    Zeng LH; Rensing NR; Zhang B; Gutmann DH; Gambello MJ; Wong M
    Hum Mol Genet; 2011 Feb; 20(3):445-54. PubMed ID: 21062901
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 9(11):823-8. PubMed ID: 11781698
    [TBL] [Abstract][Full Text] [Related]  

  • 19.
    He J; Zhou W; Shi J; Lin J; Zhang B; Sun Z
    Genet Test Mol Biomarkers; 2020 Jan; 24(1):1-5. PubMed ID: 31855466
    [No 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; 70(12):908-15. PubMed ID: 18032745
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.