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Items: 1 to 20 of 156

1.

Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.

McMaster ML, Goldstein AM, Parry DM.

J Med Genet. 2011 Jul;48(7):444-9. doi: 10.1136/jmg.2010.085092. Epub 2011 Jan 25.

2.

Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2.

Lee-Jones L, Aligianis I, Davies PA, Puga A, Farndon PA, Stemmer-Rachamimov A, Ramesh V, Sampson JR.

Genes Chromosomes Cancer. 2004 Sep;41(1):80-5.

PMID:
15236319
3.

Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.

Back SJ, Andronikou S, Kilborn T, Kaplan BS, Darge K.

Pediatr Radiol. 2015 Mar;45(3):386-95. doi: 10.1007/s00247-014-3147-1. Epub 2014 Oct 30.

PMID:
25355409
4.

Survival of patients with malignant primary osseous spinal neoplasms: results from the Surveillance, Epidemiology, and End Results (SEER) database from 1973 to 2003.

Mukherjee D, Chaichana KL, Gokaslan ZL, Aaronson O, Cheng JS, McGirt MJ.

J Neurosurg Spine. 2011 Feb;14(2):143-50. doi: 10.3171/2010.10.SPINE10189. Epub 2010 Dec 24.

PMID:
21184634
5.

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
6.

Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.

Aronow ME, Nakagawa JA, Gupta A, Traboulsi EI, Singh AD.

Ophthalmology. 2012 Sep;119(9):1917-23. doi: 10.1016/j.ophtha.2012.03.020. Epub 2012 May 16.

PMID:
22608477
7.

Aberrant hyperactivation of akt and Mammalian target of rapamycin complex 1 signaling in sporadic chordomas.

Han S, Polizzano C, Nielsen GP, Hornicek FJ, Rosenberg AE, Ramesh V.

Clin Cancer Res. 2009 Mar 15;15(6):1940-6. doi: 10.1158/1078-0432.CCR-08-2364. Epub 2009 Mar 10.

8.

Do patients with tuberous sclerosis complex have an increased risk for malignancies?

Peron A, Vignoli A, La Briola F, Volpi A, Montanari E, Morenghi E, Ghelma F, Bulfamante G, Cefalo G, Canevini MP.

Am J Med Genet A. 2016 Jun;170(6):1538-44. doi: 10.1002/ajmg.a.37644. Epub 2016 Apr 7.

PMID:
27061015
9.

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.

10.

Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation.

Rok P, Kasprzyk-Obara J, Domańska-Pakieła D, Jóźwiak S.

Med Sci Monit. 2005 May;11(5):CR230-234. Epub 2005 Apr 28.

PMID:
15874888
11.

Molecular genetic, cardiac and neurodevelopmental findings in cases of prenatally diagnosed rhabdomyoma associated with tuberous sclerosis complex.

Lee KA, Won HS, Shim JY, Lee PR, Kim A.

Ultrasound Obstet Gynecol. 2013 Mar;41(3):306-11. doi: 10.1002/uog.11227.

12.

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

Chopra M, Lawson JA, Wilson M, Kennedy SE, Taylor P, Buckley MF, Wargon O, Parasivam G, Camphausen C, Yates D, Mowat D.

J Paediatr Child Health. 2011 Oct;47(10):711-6. doi: 10.1111/j.1440-1754.2011.02038.x. Epub 2011 Mar 30.

PMID:
21449900
13.

[Chordoma].

George B, Bresson D, Bouazza S, Froelich S, Mandonnet E, Hamdi S, Orabi M, Polivka M, Cazorla A, Adle-Biassette H, Guichard JP, Duet M, Gayat E, Vallée F, Canova CH, Riet F, Bolle S, Calugaru V, Dendale R, Mazeron JJ, Feuvret L, Boissier E, Vignot S, Puget S, Sainte-Rose C, Beccaria K.

Neurochirurgie. 2014 Jun;60(3):63-140. doi: 10.1016/j.neuchi.2014.02.003. Epub 2014 May 23. Review. French.

PMID:
24856008
14.

Skull base chordoma and chondrosarcoma: influence of clinical and demographic factors on prognosis: a SEER analysis.

Bohman LE, Koch M, Bailey RL, Alonso-Basanta M, Lee JY.

World Neurosurg. 2014 Nov;82(5):806-14. doi: 10.1016/j.wneu.2014.07.005. Epub 2014 Jul 5.

PMID:
25009165
15.

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
16.

Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex.

Mi CR, Wang H, Jiang H, Sun RP, Wang GX.

Genet Mol Res. 2014 Mar 24;13(1):2102-6. doi: 10.4238/2014.March.24.14.

17.

Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland.

Devlin LA, Shepherd CH, Crawford H, Morrison PJ.

Dev Med Child Neurol. 2006 Jun;48(6):495-9.

18.

Epileptic spasms in tuberous sclerosis complex.

Hsieh DT, Jennesson MM, Thiele EA.

Epilepsy Res. 2013 Sep;106(1-2):200-10. doi: 10.1016/j.eplepsyres.2013.05.003. Epub 2013 Jun 21.

PMID:
23796861
19.

Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.

Camposano SE, Greenberg E, Kwiatkowski DJ, Thiele EA.

Ann Hum Genet. 2009 Mar;73(2):141-6. doi: 10.1111/j.1469-1809.2008.00496.x. Epub 2008 Dec 23.

20.

[Care continuity for patients with tuberous sclerosis complex (TSC) during transition from childhood to adulthood].

Kiyoko S, Hitoshi O.

Nihon Rinsho. 2010 Jan;68(1):136-40. Review. Japanese.

PMID:
20077806

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