BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

844 related articles for article (PubMed ID: 10205261)

  • 1. 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]  

  • 2. 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]  

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

  • 4. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
    Jones AC; Daniells CE; Snell RG; Tachataki M; Idziaszczyk SA; Krawczak M; Sampson JR; Cheadle JP
    Hum Mol Genet; 1997 Nov; 6(12):2155-61. PubMed ID: 9328481
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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; 41(3):223-6. PubMed ID: 14756965
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.
    Au KS; Rodriguez JA; Finch JL; Volcik KA; Roach ES; Delgado MR; Rodriguez E; Northrup H
    Am J Hum Genet; 1998 Feb; 62(2):286-94. PubMed ID: 9463313
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
    van Slegtenhorst M; de Hoogt R; Hermans C; Nellist M; Janssen B; Verhoef S; Lindhout D; van den Ouweland A; Halley D; Young J; Burley M; Jeremiah S; Woodward K; Nahmias J; Fox M; Ekong R; Osborne J; Wolfe J; Povey S; Snell RG; Cheadle JP; Jones AC; Tachataki M; Ravine D; Sampson JR; Reeve MP; Richardson P; Wilmer F; Munro C; Hawkins TL; Sepp T; Ali JB; Ward S; Green AJ; Yates JR; Kwiatkowska J; Henske EP; Short MP; Haines JH; Jozwiak S; Kwiatkowski DJ
    Science; 1997 Aug; 277(5327):805-8. PubMed ID: 9242607
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.
    Ali JB; Sepp T; Ward S; Green AJ; Yates JR
    J Med Genet; 1998 Dec; 35(12):969-72. PubMed ID: 9863590
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
    Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L
    Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
    Maheshwar MM; Cheadle JP; Jones AC; Myring J; Fryer AE; Harris PC; Sampson JR
    Hum Mol Genet; 1997 Oct; 6(11):1991-6. PubMed ID: 9302281
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 43.