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Items: 1 to 20 of 128

1.

Understanding the health economic burden of patients with tuberous sclerosis complex (TSC) with epilepsy: a retrospective cohort study in the UK Clinical Practice Research Datalink (CPRD).

Shepherd C, Koepp M, Myland M, Patel K, Miglio C, Siva V, Gray E, Neary M.

BMJ Open. 2017 Oct 5;7(10):e015236. doi: 10.1136/bmjopen-2016-015236.

2.

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.

3.

Importance of tuberin in carcinogenesis.

Jin M, An Q, Wang L.

Oncol Lett. 2017 Sep;14(3):2598-2602. doi: 10.3892/ol.2017.6490. Epub 2017 Jun 28.

4.

PI3K/AKT/mTOR pathway in pulmonary carcinoid tumours.

Zhang Z, Wang M.

Oncol Lett. 2017 Aug;14(2):1373-1378. doi: 10.3892/ol.2017.6331. Epub 2017 Jun 7.

5.

Pneumothorax caused by cystic and nodular lung metastases from a malignant uterine perivascular epithelioid cell tumor (PEComa).

Okamoto S, Komura M, Terao Y, Kurisaki-Arakawa A, Hayashi T, Saito T, Togo S, Shiokawa A, Mitani K, Kobayashi E, Kumasaka T, Takahashi K, Seyama K.

Respir Med Case Rep. 2017 Jun 27;22:77-82. doi: 10.1016/j.rmcr.2017.06.011. eCollection 2017.

6.

A case of being 'double unlucky'.

Sinha R, Ray G, Agarwal I, Marks SD.

NDT Plus. 2010 Jun;3(3):324-325. doi: 10.1093/ndtplus/sfq045. Epub 2010 Mar 31. No abstract available.

7.

The genomic landscape of tuberous sclerosis complex.

Martin KR, Zhou W, Bowman MJ, Shih J, Au KS, Dittenhafer-Reed KE, Sisson KA, Koeman J, Weisenberger DJ, Cottingham SL, DeRoos ST, Devinsky O, Winn ME, Cherniack AD, Shen H, Northrup H, Krueger DA, MacKeigan JP.

Nat Commun. 2017 Jun 15;8:15816. doi: 10.1038/ncomms15816.

8.

Perivascular epithelial cell tumor (PEComa) of the pancreas: A case report and review of literature.

Zhang S, Chen F, Huang X, Jiang Q, Zhao Y, Chen Y, Zhang J, Ma J, Yuan W, Xu Q, Zhao J, Wang C.

Medicine (Baltimore). 2017 Jun;96(22):e7050. doi: 10.1097/MD.0000000000007050. Review.

9.

Subependymal Giant Cell Astrocytoma Presenting with Tumoral Bleeding: A Case Report.

Kim JY, Jung TY, Lee KH, Kim SK.

Brain Tumor Res Treat. 2017 Apr;5(1):37-41. doi: 10.14791/btrt.2017.5.1.37. Epub 2017 Apr 30.

10.

Early manifestations of renal disease in patients with tuberous sclerosis complex.

Malaga-Dieguez L, Spencer R, Pehrson LJ, Vento S, Menzer K, Devinsky O, Trachtman H.

Int J Nephrol Renovasc Dis. 2017 May 2;10:91-95. doi: 10.2147/IJNRD.S123638. eCollection 2017.

11.

Combined Targeting of mTOR and Akt Using Rapamycin and MK-2206 in The Treatment of Tuberous Sclerosis Complex.

Ji S, Lin W, Wang L, Ni Z, Jin F, Zha X, Fei G.

J Cancer. 2017 Feb 11;8(4):555-562. doi: 10.7150/jca.17205. eCollection 2017.

12.

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review.

Rosset C, Netto CBO, Ashton-Prolla P.

Genet Mol Biol. 2017 Jan-Mar;40(1):69-79. doi: 10.1590/1678-4685-GMB-2015-0321. Epub 2017 Feb 20.

13.

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female.

Elo JA, Sun HH, Laudenbach JM, Singh HM.

Head Neck Pathol. 2017 Jan 10. doi: 10.1007/s12105-016-0777-7. [Epub ahead of print]

PMID:
28074344
14.

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.

Kingswood JC, d'Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA consortium and TOSCA investigators.

Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5.

15.

Genetics of tuberous sclerosis complex: implications for clinical practice.

Caban C, Khan N, Hasbani DM, Crino PB.

Appl Clin Genet. 2016 Dec 21;10:1-8. doi: 10.2147/TACG.S90262. eCollection 2017. Review.

16.

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN.

Dermatol Clin. 2017 Jan;35(1):51-60. doi: 10.1016/j.det.2016.07.001. Review.

PMID:
27890237
17.

New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.

Lam HC, Nijmeh J, Henske EP.

J Pathol. 2017 Jan;241(2):219-225. doi: 10.1002/path.4827. Epub 2016 Nov 29. Review.

PMID:
27753446
18.

Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: a Spanish expanded access trial.

Robles NR, Peces R, Gómez-Ferrer Á, Villacampa F, Álvarez-Ossorio JL, Pérez-Segura P, Morote J, Herrera-Imbroda B, Nieto J, Carballido J, Anido U, Valero M, Meseguer C, Torra R.

Orphanet J Rare Dis. 2016 Sep 26;11(1):128.

19.

Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy.

Capal JK, Franz DN.

Neuropsychiatr Dis Treat. 2016 Aug 25;12:2165-72. doi: 10.2147/NDT.S91248. eCollection 2016. Review.

20.

Genotype and brain pathology phenotype in children with tuberous sclerosis complex.

Overwater IE, Swenker R, van der Ende EL, Hanemaayer KB, Hoogeveen-Westerveld M, van Eeghen AM, Lequin MH, van den Ouweland AM, Moll HA, Nellist M, de Wit MY.

Eur J Hum Genet. 2016 Dec;24(12):1688-1695. doi: 10.1038/ejhg.2016.85. Epub 2016 Jul 13.

PMID:
27406250

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