16981987 25525159 9863590 20547222 25900779 10533066 11112665 9242607 9328481 9924605[uid] - Search Results

Year	Number of Results
1997	2
1998	2
1999	1
2000	1
2001	1
2006	1
2010	1
2014	1
2015	2
2024	0

1

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. Hung CC, et al. BMC Med Genet. 2006 Sep 18;7:72. doi: 10.1186/1471-2350-7-72. BMC Med Genet. 2006. PMID: 16981987 Free PMC article.

2

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ. Xiong HY, et al. Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18. Science. 2015. PMID: 25525159 Free PMC article.

3

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

Ali JB, Sepp T, Ward S, Green AJ, Yates JR. Ali JB, et al. J Med Genet. 1998 Dec;35(12):969-72. doi: 10.1136/jmg.35.12.969. J Med Genet. 1998. PMID: 9863590 Free PMC article.

4

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.

Hoogeveen-Westerveld M, Exalto C, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Biochim Biophys Acta. 2010 Sep;1802(9):774-81. doi: 10.1016/j.bbadis.2010.06.004. Epub 2010 Jun 12. Biochim Biophys Acta. 2010. PMID: 20547222 Free article.

5

TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

Zhang Y, Gan J, Pu Z, Xu Mm, Wang Lf, Li Yh, Liu Zg. Zhang Y, et al. Neuromolecular Med. 2015 Jun;17(2):202-8. doi: 10.1007/s12017-015-8354-x. Epub 2015 Apr 22. Neuromolecular Med. 2015. PMID: 25900779 Review.

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. Mayer K, et al. Hum Mutat. 1999;14(5):401-11. doi: 10.1002/(SICI)1098-1004(199911)14:5<401::AID-HUMU6>3.0.CO;2-R. Hum Mutat. 1999. PMID: 10533066

7

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. Dabora SL, et al. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.

8

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. van Slegtenhorst M, et al. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

9

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. Jones AC, et al. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481

10

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance.

Kwiatkowska J, Jozwiak S, Hall F, Henske EP, Haines JL, McNamara P, Braiser J, Wigowska-Sowinska J, Kasprzyk-Obara J, Short MP, Kwiatkowski DJ. Kwiatkowska J, et al. Ann Hum Genet. 1998 Jul;62(Pt 4):277-85. doi: 10.1046/j.1469-1809.1998.6240277.x. Ann Hum Genet. 1998. PMID: 9924605

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