BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

607 related articles for article (PubMed ID: 20498439)

  • 1. Biallelic TSC gene inactivation in tuberous sclerosis complex.
    Crino PB; Aronica E; Baltuch G; Nathanson KL
    Neurology; 2010 May; 74(21):1716-23. PubMed ID: 20498439
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
    Chan JA; Zhang H; Roberts PS; Jozwiak S; Wieslawa G; Lewin-Kowalik J; Kotulska K; Kwiatkowski DJ
    J Neuropathol Exp Neurol; 2004 Dec; 63(12):1236-42. PubMed ID: 15624760
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
    Giannikou K; Malinowska IA; Pugh TJ; Yan R; Tseng YY; Oh C; Kim J; Tyburczy ME; Chekaluk Y; Liu Y; Alesi N; Finlay GA; Wu CL; Signoretti S; Meyerson M; Getz G; Boehm JS; Henske EP; Kwiatkowski DJ
    PLoS Genet; 2016 Aug; 12(8):e1006242. PubMed ID: 27494029
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 68(1):64-80. PubMed ID: 11112665
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 64(5):1305-15. PubMed ID: 10205261
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    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]  

  • 7. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.
    Niida Y; Stemmer-Rachamimov AO; Logrip M; Tapon D; Perez R; Kwiatkowski DJ; Sims K; MacCollin M; Louis DN; Ramesh V
    Am J Hum Genet; 2001 Sep; 69(3):493-503. PubMed ID: 11468687
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.
    Qin W; Chan JA; Vinters HV; Mathern GW; Franz DN; Taillon BE; Bouffard P; Kwiatkowski DJ
    Brain Pathol; 2010 Nov; 20(6):1096-105. PubMed ID: 20633017
    [TBL] [Abstract][Full Text] [Related]  

  • 9. mTOR cascade activation distinguishes tubers from focal cortical dysplasia.
    Baybis M; Yu J; Lee A; Golden JA; Weiner H; McKhann G; Aronica E; Crino PB
    Ann Neurol; 2004 Oct; 56(4):478-87. PubMed ID: 15455405
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
    Niida Y; Wakisaka A; Tsuji T; Yamada H; Kuroda M; Mitani Y; Okumura A; Yokoi A
    J Hum Genet; 2013 Apr; 58(4):216-25. PubMed ID: 23389244
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
    Klonowska K; Giannikou K; Grevelink JM; Boeszoermenyi B; Thorner AR; Herbert ZT; Afrin A; Treichel AM; Hamieh L; Kotulska K; Jozwiak S; Moss J; Darling TN; Kwiatkowski DJ
    Am J Hum Genet; 2023 Jun; 110(6):979-988. PubMed ID: 37141891
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Tuberous sclerosis as an underlying basis for infantile spasm.
    Yeung RS
    Int Rev Neurobiol; 2002; 49():315-32. PubMed ID: 12040899
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.
    Tyburczy ME; Wang JA; Li S; Thangapazham R; Chekaluk Y; Moss J; Kwiatkowski DJ; Darling TN
    Hum Mol Genet; 2014 Apr; 23(8):2023-9. PubMed ID: 24271014
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Germ-line mosaicism in tuberous sclerosis: how common?
    Rose VM; Au KS; Pollom G; Roach ES; Prashner HR; Northrup H
    Am J Hum Genet; 1999 Apr; 64(4):986-92. PubMed ID: 10090883
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Renal angiomyolipoma (AML) harboring a missense mutation of
    Idogawa M; Hida T; Tanaka T; Ohira N; Tange S; Sasaki Y; Uhara H; Masumori N; Tokino T; Natori H
    Cancer Biol Ther; 2020 Apr; 21(4):315-319. PubMed ID: 31847710
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic Mutations in
    Winden KD; Sundberg M; Yang C; Wafa SMA; Dwyer S; Chen PF; Buttermore ED; Sahin M
    J Neurosci; 2019 Nov; 39(47):9294-9305. PubMed ID: 31591157
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Genetic analysis of 18 families with tuberous sclerosis complex.
    Yin K; Lin N; Lu Q; Jin L; Huang Y; Zhou X; Xu K; Liu Q; Zhang X
    Neurogenetics; 2022 Jul; 23(3):223-230. PubMed ID: 35596872
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evidence for population variation in TSC1 and TSC2 gene expression.
    Jentarra GM; Rice SG; Olfers S; Saffen D; Narayanan V
    BMC Med Genet; 2011 Feb; 12():29. PubMed ID: 21345208
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Cytoarchitectural alterations are widespread in cerebral cortex in tuberous sclerosis complex.
    Marcotte L; Aronica E; Baybis M; Crino PB
    Acta Neuropathol; 2012 May; 123(5):685-93. PubMed ID: 22327361
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 31.