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Items: 1 to 20 of 151

1.

Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.

Wong HT, McCartney DL, Lewis JC, Sampson JR, Howe CJ, de Vries PJ.

J Med Genet. 2015 Dec;52(12):815-22. doi: 10.1136/jmedgenet-2015-103154. Epub 2015 Sep 25.

PMID:
26408672
2.

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
3.

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
4.

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.

5.

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
6.

Biallelic TSC gene inactivation in tuberous sclerosis complex.

Crino PB, Aronica E, Baltuch G, Nathanson KL.

Neurology. 2010 May 25;74(21):1716-23. doi: 10.1212/WNL.0b013e3181e04325.

7.

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.

PMID:
12015165
8.

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
9.

Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

Ali M, Girimaji SC, Markandaya M, Shukla AK, Sacchidanand S, Kumar A.

Acta Neurol Scand. 2005 Jan;111(1):54-63.

PMID:
15595939
10.

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. doi: 10.1038/ejhg.2008.170. Epub 2008 Oct 1.

12.

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
13.

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
14.

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17.

PMID:
22161988
15.

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8.

PMID:
21309039
16.

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.

17.

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. Epub 2002 Jun 8.

PMID:
12111193
18.

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.

van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA.

Eur J Hum Genet. 2012 May;20(5):510-5. doi: 10.1038/ejhg.2011.241. Epub 2011 Dec 21.

19.

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.

20.

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.

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