-
1
-
-
0030064630
-
Morbidity associated with tuberous sclerosis: A population study
-
Webb DW, Fryer AE, Osborne JP. Morbidity associated with tuberous sclerosis: a population study. Dev Med Child Neurol 1996;38:146- 55.
-
(1996)
Dev Med Child Neurol
, vol.38
, pp. 146-155
-
-
Webb, D.W.1
Fryer, A.E.2
Osborne, J.P.3
-
2
-
-
0027400634
-
Cardiac rhabdomyomas and their association with tuberous sclerosis
-
Webb DW, Thomas RD, Osborne JP. Cardiac rhabdomyomas and their association with tuberous sclerosis. Arch Dis Child 1993;68:367- 70.
-
(1993)
Arch Dis Child
, vol.68
, pp. 367-370
-
-
Webb, D.W.1
Thomas, R.D.2
Osborne, J.P.3
-
3
-
-
0029900158
-
The cutaneous features of tuberous sclerosis: A population study
-
Webb DW, Clarke A, Fryer A, et al. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 1996;135:1-5.
-
(1996)
Br J Dermatol
, vol.135
, pp. 1-5
-
-
Webb, D.W.1
Clarke, A.2
Fryer, A.3
-
4
-
-
8144220450
-
An epidemiological study of renal pathology in tuberous sclerosis complex
-
O'Callaghan FJ, Noakes MJ, Martyn CN, et al. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int 2004;94:853-7.
-
(2004)
BJU Int
, vol.94
, pp. 853-857
-
-
O'Callaghan, F.J.1
Noakes, M.J.2
Martyn, C.N.3
-
5
-
-
0035061117
-
Ophthalmic manifestations of tuberous sclerosis: A population based study
-
Rowley SA, O'Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol 2001;85:420-3.
-
(2001)
Br J Ophthalmol
, vol.85
, pp. 420-423
-
-
Rowley, S.A.1
O'Callaghan, F.J.2
Osborne, J.P.3
-
6
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M, de Hoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277:805-8.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
van Slegtenhorst, M.1
de Hoogt, R.2
Hermans, C.3
-
7
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
The European Chromosome 16 Tuberous Sclerosis Consortium
-
The European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
8
-
-
0028029278
-
The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor
-
Green AJ, Johnson PH, Yates JR. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet 1994;3:1833-4.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1833-1834
-
-
Green, A.J.1
Johnson, P.H.2
Yates, J.R.3
-
9
-
-
0028289473
-
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
-
Green AJ, Smith M, Yates JR. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994;6:193-6.
-
(1994)
Nat Genet
, vol.6
, pp. 193-196
-
-
Green, A.J.1
Smith, M.2
Yates, J.R.3
-
10
-
-
2642525301
-
The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
-
O'Callaghan FJ, Harris T, Joinson C, et al. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch Dis Child 2004;89:530-3.
-
(2004)
Arch Dis Child
, vol.89
, pp. 530-533
-
-
O'Callaghan, F.J.1
Harris, T.2
Joinson, C.3
-
11
-
-
0345109967
-
Evolution of cardiac rhabdomyoma in tuberous sclerosis complex
-
DiMario FJ Jr, Diana D, Leopold H, et al. Evolution of cardiac rhabdomyoma in tuberous sclerosis complex. Clin Pediatr (Phila) 1996;35:615-19.
-
(1996)
Clin Pediatr (Phila)
, vol.35
, pp. 615-619
-
-
DiMario Jr, F.J.1
Diana, D.2
Leopold, H.3
-
12
-
-
0026096189
-
Causes of death in patients with tuberous sclerosis
-
Shepherd CW, Gomez MR, Lie JT, et al. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991;66:792-6.
-
(1991)
Mayo Clin Proc
, vol.66
, pp. 792-796
-
-
Shepherd, C.W.1
Gomez, M.R.2
Lie, J.T.3
-
13
-
-
0027090405
-
Tuberous sclerosis complex: Genetic aspects
-
Northrup H. Tuberous sclerosis complex: genetic aspects. J Dermatol 1992;19:914-19.
-
(1992)
J Dermatol
, vol.19
, pp. 914-919
-
-
Northrup, H.1
-
14
-
-
0029826812
-
Loss of heterozygosity in tuberous sclerosis hamartomas
-
Sepp T, Yates JR, Green AJ. Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 1996;33:962-4.
-
(1996)
J Med Genet
, vol.33
, pp. 962-964
-
-
Sepp, T.1
Yates, J.R.2
Green, A.J.3
-
15
-
-
7144255533
-
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
-
van Slegtenhorst M, Nellist M, Nagelkerken B, et al. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 1998;7:1053-7.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1053-1057
-
-
van Slegtenhorst, M.1
Nellist, M.2
Nagelkerken, B.3
-
16
-
-
0037108750
-
Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling
-
Tee AR, Fingar DC, Manning BD, et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA 2002;99:13571-6.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 13571-13576
-
-
Tee, A.R.1
Fingar, D.C.2
Manning, B.D.3
-
17
-
-
19944431403
-
Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models
-
Lee L, Sudentas P, Donohue B, et al. Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models. Genes Chromosomes Cancer 2005;42:213-27.
-
(2005)
Genes Chromosomes Cancer
, vol.42
, pp. 213-227
-
-
Lee, L.1
Sudentas, P.2
Donohue, B.3
-
18
-
-
0028360485
-
The evolution of renal angiomyolipomas in patients with tuberous sclerosis
-
van Baal JG, Smits NJ, Keeman JN, et al. The evolution of renal angiomyolipomas in patients with tuberous sclerosis. J Urol 1994;152:35-8.
-
(1994)
J Urol
, vol.152
, pp. 35-38
-
-
van Baal, J.G.1
Smits, N.J.2
Keeman, J.N.3
-
19
-
-
33644827461
-
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
-
Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006;59:490-8.
-
(2006)
Ann Neurol
, vol.59
, pp. 490-498
-
-
Franz, D.N.1
Leonard, J.2
Tudor, C.3
-
20
-
-
0033917014
-
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
-
Jones AC, Sampson JR, Hoogendoorn B, et al. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Hum Genet 2000;106:663-8.
-
(2000)
Hum Genet
, vol.106
, pp. 663-668
-
-
Jones, A.C.1
Sampson, J.R.2
Hoogendoorn, B.3
-
21
-
-
0033361939
-
High rate of mosaicism in tuberous sclerosis complex
-
Verhoef S, Bakker L, Tempelaars AM, et al. High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 1999;64:1632-7.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1632-1637
-
-
Verhoef, S.1
Bakker, L.2
Tempelaars, A.M.3
-
22
-
-
0035167932
-
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, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64-80.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
-
23
-
-
0033358599
-
Germ-line mosaicism in tuberous sclerosis: How common?
-
Bose VM, Au KS, Pollom G, et al. Germ-line mosaicism in tuberous sclerosis: how common? Am J Hum Genet 1999;64:986-92.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 986-992
-
-
Bose, V.M.1
Au, K.S.2
Pollom, G.3
-
24
-
-
0030931268
-
Randomized trial comparing vigabatrin and hydrocortisone in infantile spasms due to tuberous sclerosis
-
Chiron C, Dumas C, Jambaque I, et al. Randomized trial comparing vigabatrin and hydrocortisone in infantile spasms due to tuberous sclerosis. Epilepsy Res 1997;26:389-95.
-
(1997)
Epilepsy Res
, vol.26
, pp. 389-395
-
-
Chiron, C.1
Dumas, C.2
Jambaque, I.3
-
25
-
-
26844507605
-
The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: A multicentre randomised trial
-
Lux AL, Edwards SW, Hancock E, et al. The United Kingdom Infantile Spasms Study (UKISS) comparing hormone treatment with vigabatrin on developmental and epilepsy outcomes to age 14 months: a multicentre randomised trial. Lancet Neurol 2005;4:712-17.
-
(2005)
Lancet Neurol
, vol.4
, pp. 712-717
-
-
Lux, A.L.1
Edwards, S.W.2
Hancock, E.3
-
26
-
-
33745231169
-
Autistic regression associated with seizure onset in an infant with tuberous sclerosis
-
Humphrey A, Neville BG, Clarke A, et al. Autistic regression associated with seizure onset in an infant with tuberous sclerosis. Dev Med Child Neurol 2006;48:609-11.
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 609-611
-
-
Humphrey, A.1
Neville, B.G.2
Clarke, A.3
-
27
-
-
27244460363
-
Tuberous sclerosis complex and the ketogenic diet
-
Kossoff EH, Thiele EA, Pfeifer HH, et al. Tuberous sclerosis complex and the ketogenic diet. Epilepsia 2005;46:1684- 6.
-
(2005)
Epilepsia
, vol.46
, pp. 1684-1686
-
-
Kossoff, E.H.1
Thiele, E.A.2
Pfeifer, H.H.3
-
28
-
-
1042265054
-
Long-term outcome of epilepsy surgery in patients with tuberous sclerosis
-
Jarrar HG, Buchhalter JR, Raffel C. Long-term outcome of epilepsy surgery in patients with tuberous sclerosis. Neurology 2004;62:479-81.
-
(2004)
Neurology
, vol.62
, pp. 479-481
-
-
Jarrar, H.G.1
Buchhalter, J.R.2
Raffel, C.3
-
29
-
-
33746287771
-
Tuberous sclerosis complex: A review of the management of epilepsy with emphasis on surgical aspects
-
Connolly MB, Hendson G, Steinbok P. Tuberous sclerosis complex: a review of the management of epilepsy with emphasis on surgical aspects. Childs Nerv Syst 2006;22:896-908.
-
(2006)
Childs Nerv Syst
, vol.22
, pp. 896-908
-
-
Connolly, M.B.1
Hendson, G.2
Steinbok, P.3
-
30
-
-
33644507428
-
Neurocutaneous syndromes and epilepsy: Issues in diagnosis and management
-
Cross JH. Neurocutaneous syndromes and epilepsy: issues in diagnosis and management. CNS Spectr 2006;11(2 Suppl 2):19-25.
-
(2006)
CNS Spectr
, vol.11
, Issue.2 SUPPL. 2
, pp. 19-25
-
-
Cross, J.H.1
-
31
-
-
33645398585
-
Detecting vigabatrin toxicity by imaging of the retinal nerve fibre layer
-
Wild JM, Robson CR, Jones AL, et al. Detecting vigabatrin toxicity by imaging of the retinal nerve fibre layer. Invest Ophthalmol Vis Sci 2006;47:917-24.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 917-924
-
-
Wild, J.M.1
Robson, C.R.2
Jones, A.L.3
|