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4. 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]
5. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. Mozaffari M; Hoogeveen-Westerveld M; Kwiatkowski D; Sampson J; Ekong R; Povey S; den Dunnen JT; van den Ouweland A; Halley D; Nellist M BMC Med Genet; 2009 Sep; 10():88. PubMed ID: 19747374 [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. 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]
8. Mutation of the 9q34 gene TSC1 in sporadic bladder cancer. Hornigold N; Devlin J; Davies AM; Aveyard JS; Habuchi T; Knowles MA Oncogene; 1999 Apr; 18(16):2657-61. PubMed ID: 10353610 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
14. 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]
15. 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]
16. Human bladder tumors with 2-hit mutations of tumor suppressor gene TSC1 and decreased expression of p27. Adachi H; Igawa M; Shiina H; Urakami S; Shigeno K; Hino O J Urol; 2003 Aug; 170(2 Pt 1):601-4. PubMed ID: 12853839 [TBL] [Abstract][Full Text] [Related]
17. The chromosome 9q genes TGFBR1, TSC1, and ZNF189 are rarely mutated in bladder cancer. van Tilborg AA; de Vries A; Zwarthoff EC J Pathol; 2001 May; 194(1):76-80. PubMed ID: 11329144 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. Yamamoto T; Pipo JR; Feng JH; Takeda H; Nanba E; Ninomiya H; Ohno K Brain Dev; 2002 Jun; 24(4):227-30. PubMed ID: 12015165 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]