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Items: 1 to 20 of 47

1.

Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ.

PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov.

2.

A novel mouse model of tuberous sclerosis complex (TSC): eye-specific Tsc1-ablation disrupts visual-pathway development.

Jones I, Hägglund AC, Törnqvist G, Nord C, Ahlgren U, Carlsson L.

Dis Model Mech. 2015 Dec;8(12):1517-29. doi: 10.1242/dmm.021972. Epub 2015 Oct 8.

3.

Left-right asymmetry in the light of TOR: An update on what we know so far.

Casar Tena T, Burkhalter MD, Philipp M.

Biol Cell. 2015 Sep;107(9):306-18. doi: 10.1111/boc.201400094. Epub 2015 Jun 11.

4.

Renal manifestations of tuberous sclerosis among children: an Indian experience and review of the literature.

Korula S, Ekbote A, Kumar N, Danda S, Agarwal I, Chaturvedi S.

Clin Kidney J. 2014 Apr;7(2):134-7. doi: 10.1093/ckj/sft162. Epub 2014 Jan 26.

5.

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR.

Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18.

6.

Prolonging the survival of Tsc2 conditional knockout mice by glutamine supplementation.

Rozas NS, Redell JB, McKenna J 3rd, Moore AN, Gambello MJ, Dash PK.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):635-9. doi: 10.1016/j.bbrc.2015.01.039. Epub 2015 Jan 19.

7.

Myocardial fat overgrowth in Proteus syndrome.

Hannoush H, Sachdev V, Brofferio A, Arai AE, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker LG, Keppler-Noreuil KM.

Am J Med Genet A. 2015 Jan;167A(1):103-10. doi: 10.1002/ajmg.a.36773. Epub 2014 Nov 6.

8.

Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice.

Greene-Colozzi EA, Sadowski AR, Chadwick E, Tsai PT, Sahin M.

Epilepsy Res Treat. 2014;2014:784137. doi: 10.1155/2014/784137. Epub 2014 Aug 4.

9.

Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.

Alsmadi O, John SE, Thareja G, Hebbar P, Antony D, Behbehani K, Thanaraj TA.

PLoS One. 2014 Jun 4;9(6):e99069. doi: 10.1371/journal.pone.0099069. eCollection 2014. Erratum in: PLoS One. 2014;9(7):e103691.

10.

A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.

Zhang J, Kim J, Alexander A, Cai S, Tripathi DN, Dere R, Tee AR, Tait-Mulder J, Di Nardo A, Han JM, Kwiatkowski E, Dunlop EA, Dodd KM, Folkerth RD, Faust PL, Kastan MB, Sahin M, Walker CL.

Nat Cell Biol. 2013 Oct;15(10):1186-96. doi: 10.1038/ncb2822. Epub 2013 Aug 18.

11.

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2).

Mayer K, Fonatsch C, Wimmer K, van den Ouweland AM, Maat-Kievit AJ.

Eur J Hum Genet. 2014 Feb;22(2). doi: 10.1038/ejhg.2013.129. Epub 2013 Jun 12. No abstract available.

12.

Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients.

Wataya-Kaneda M, Tanaka M, Hamasaki T, Katayama I.

PLoS One. 2013 May 17;8(5):e63910. doi: 10.1371/journal.pone.0063910. Print 2013.

13.

Unusual cardiac "masses" in a newborn with infantile pompe disease.

Swarr DT, Kaufman B, Fogel MA, Finkel R, Ganesh J.

JIMD Rep. 2012;5:17-20. doi: 10.1007/8904_2011_85. Epub 2011 Dec 13.

14.

A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex.

Weisenfeld NI, Peters JM, Tsai PT, Prabhu SP, Dies KA, Sahin M, Warfield SK.

Pediatr Neurol. 2013 Feb;48(2):105-10. doi: 10.1016/j.pediatrneurol.2012.10.011.

15.

A developmental and genetic classification for malformations of cortical development: update 2012.

Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB.

Brain. 2012 May;135(Pt 5):1348-69. doi: 10.1093/brain/aws019. Epub 2012 Mar 16. Review.

16.

Clinically relevant imaging in tuberous sclerosis.

Radhakrishnan R, Verma S.

J Clin Imaging Sci. 2011;1:39. doi: 10.4103/2156-7514.83230. Epub 2011 Jul 27.

17.

Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin.

Carson RP, Van Nielen DL, Winzenburger PA, Ess KC.

Neurobiol Dis. 2012 Jan;45(1):369-80. doi: 10.1016/j.nbd.2011.08.024. Epub 2011 Aug 26.

18.

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.

Dunlop EA, Dodd KM, Land SC, Davies PA, Martins N, Stuart H, McKee S, Kingswood C, Saggar A, Corderio I, Medeira AM, Kingston H, Sampson JR, Davies DM, Tee AR.

Eur J Hum Genet. 2011 Jul;19(7):789-95. doi: 10.1038/ejhg.2011.38. Epub 2011 Mar 16.

19.

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.

Numis AL, Major P, Montenegro MA, Muzykewicz DA, Pulsifer MB, Thiele EA.

Neurology. 2011 Mar 15;76(11):981-7. doi: 10.1212/WNL.0b013e3182104347.

20.

Evidence for population variation in TSC1 and TSC2 gene expression.

Jentarra GM, Rice SG, Olfers S, Saffen D, Narayanan V.

BMC Med Genet. 2011 Feb 23;12:29. doi: 10.1186/1471-2350-12-29.

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