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Items: 1 to 20 of 104

1.

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. doi: 10.1016/j.seizure.2019.08.010. Epub 2019 Aug 23.

PMID:
31525612
2.

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; Danish Tuberous Sclerosis Group.

Hum Mutat. 2005 Oct;26(4):374-83.

PMID:
16114042
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.

PMID:
10533067
4.

Mutational analysis of paediatric patients with tuberous sclerosis complex in Korea: genotype and epilepsy.

Lee JS, Lim BC, Chae JH, Hwang YS, Seong MW, Park SS, Kim KJ.

Epileptic Disord. 2014 Dec;16(4):449-55. doi: 10.1684/epd.2014.0712.

5.

Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.

Yu T, He Y, Li N, Zhou Y, Wang Z, Fu Q, Wang J, Wang J.

Clin Neurol Neurosurg. 2017 Mar;154:104-108. doi: 10.1016/j.clineuro.2017.01.015. Epub 2017 Feb 1.

PMID:
28178598
6.

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.

Avgeris S, Fostira F, Vagena A, Ninios Y, Delimitsou A, Vodicka R, Vrtel R, Youroukos S, Stravopodis DJ, Vlassi M, Astrinidis A, Yannoukakos D, Voutsinas GE.

Sci Rep. 2017 Dec 1;7(1):16697. doi: 10.1038/s41598-017-16988-w.

7.

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.

PMID:
9328481
8.

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations.

Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska-Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ.

Hum Genet. 2007 May;121(3-4):389-400. Epub 2007 Feb 8.

PMID:
17287951
9.

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Rosset C, Vairo F, Bandeira IC, Correia RL, de Goes FV, da Silva RTB, Bueno LSM, de Miranda Gomes MCS, Galvão HCR, Neri JICF, Achatz MI, Netto CBO, Ashton-Prolla P.

PLoS One. 2017 Oct 2;12(10):e0185713. doi: 10.1371/journal.pone.0185713. eCollection 2017.

10.

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. Epub 2006 Mar 22.

PMID:
16554133
11.

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

van den Ouweland AM, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJ, Halley DJ.

Eur J Hum Genet. 2011 Feb;19(2):157-63. doi: 10.1038/ejhg.2010.156. Epub 2010 Sep 29.

12.

Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.

Ismail NF, Rani AQ, Nik Abdul Malik NM, Boon Hock C, Mohd Azlan SN, Abdul Razak S, Keng WT, Ngu LH, Silawati AR, Yahya NA, Mohd Yusoff N, Sasongko TH, Zabidi-Hussin ZA.

J Mol Diagn. 2017 Mar;19(2):265-276. doi: 10.1016/j.jmoldx.2016.10.009. Epub 2017 Jan 11.

PMID:
28087349
13.

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. Review.

14.

The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.

Yang HM, Choi HJ, Hong DP, Joo SY, Lee NE, Song JY, Choi YL, Lee J, Choi D, Kim B, Park HJ, Park JB, Kim SJ.

Exp Mol Pathol. 2014 Dec;97(3):440-4. doi: 10.1016/j.yexmp.2014.09.013. Epub 2014 Oct 1.

PMID:
25281918
15.

Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.

Gao S, Wang Z, Xie Y.

Medicine (Baltimore). 2018 Jul;97(29):e11533. doi: 10.1097/MD.0000000000011533.

16.

Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China.

Cai Y, Li H, Zhang Y.

Urology. 2017 Mar;101:170.e1-170.e7. doi: 10.1016/j.urology.2016.10.056. Epub 2017 Jan 5.

PMID:
28065512
17.
18.

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. Epub 2000 Dec 8.

19.

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. doi: 10.1038/jhg.2013.3. Epub 2013 Feb 7.

PMID:
23389244
20.

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 18;7:72.

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