-
1
-
-
0032424306
-
Skin lesions in children with tuberous sclerosis complex: their incidence, natural course and diagnostic significance
-
Józwiak S, Schwartz RA, Janniger CK, et al. Skin lesions in children with tuberous sclerosis complex: their incidence, natural course and diagnostic significance. Int J Dermatol 1998; 37: 911-917.
-
(1998)
Int J Dermatol
, vol.37
, pp. 911-917
-
-
Józwiak, S.1
Schwartz, R.A.2
Janniger, C.K.3
-
2
-
-
78650553242
-
Neurocutaneous Disorders
-
In: Ruggieri M, Pascual Castroviejo I, Di Rocco C, eds. Vienna: Springer.
-
Jozwiak S, Migone N, Ruggieri M. The tuberous sclerosis complex. Phakomatoses and hamartoneoplastic syndromes. In: Ruggieri M, Pascual Castroviejo I, Di Rocco C, eds. Neurocutaneous Disorders. Vienna: Springer, 2008: 181-227.
-
(2008)
The tuberous sclerosis complex. Phakomatoses and hamartoneoplastic syndromes
, pp. 181-227
-
-
Jozwiak, S.1
Migone, N.2
Ruggieri, M.3
-
3
-
-
0028105795
-
Tuberous sclerosis in western Sweden. A population study of cases with early childhood onset
-
Ahlsén G, Gillberg IC, Lindblom R, Gilberg C. Tuberous sclerosis in western Sweden. A population study of cases with early childhood onset. Arch Neurol 1994; 51: 76-81.
-
(1994)
Arch Neurol
, vol.51
, pp. 76-81
-
-
Ahlsén, G.1
Gillberg, I.C.2
Lindblom, R.3
Gilberg, C.4
-
4
-
-
34447272449
-
Tuberous sclerosis complex: advances in diagnosis, genetics and management
-
Schwartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics and management. J Am Acad Dermatol 2007; 57: 189-202.
-
(2007)
J Am Acad Dermatol
, vol.57
, pp. 189-202
-
-
Schwartz, R.A.1
Fernandez, G.2
Kotulska, K.3
Jozwiak, S.4
-
5
-
-
0032438210
-
Tuberous Sclerosis Consensus Conference: revised clinical diagnostic criteria
-
Roach ES, Gomez MR, Northrup H. Tuberous Sclerosis Consensus Conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-628.
-
(1998)
J Child Neurol
, vol.13
, pp. 624-628
-
-
Roach, E.S.1
Gomez, M.R.2
Northrup, H.3
-
7
-
-
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
-
9
-
-
27744588780
-
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
-
Kwiatkowski DJ, Manning BD. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 2005; 14: 251-258.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 251-258
-
-
Kwiatkowski, D.J.1
Manning, B.D.2
-
10
-
-
0347988005
-
Loss of Tsc1/Tsc2 activates mTOR and disrupts P13K-Akt signaling through downregulation of PDGFR
-
Zhang H, Cicchetti G, Onda H, et al. Loss of Tsc1/Tsc2 activates mTOR and disrupts P13K-Akt signaling through downregulation of PDGFR. J Clin Invest 2003; 112: 1223-1233.
-
(2003)
J Clin Invest
, vol.112
, pp. 1223-1233
-
-
Zhang, H.1
Cicchetti, G.2
Onda, H.3
-
11
-
-
37449015440
-
Possible mechanisms of disease development in tuberous sclerosis
-
Jozwiak J, Jozwiak S, Wlodarski P. Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncol 2008; 9: 73-79.
-
(2008)
Lancet Oncol
, vol.9
, pp. 73-79
-
-
Jozwiak, J.1
Jozwiak, S.2
Wlodarski, P.3
-
12
-
-
33748657821
-
The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27
-
Rosner M, Freilinger A, Hengstschläger M. The tuberous sclerosis genes and regulation of the cyclin-dependent kinase inhibitor p27. Mutat Res 2006; 613: 10-16.
-
(2006)
Mutat Res
, vol.613
, pp. 10-16
-
-
Rosner, M.1
Freilinger, A.2
Hengstschläger, M.3
-
13
-
-
33750206088
-
Tuberin activates the proapoptotic molecule BAD
-
Freilinger A, Rosner M, Krupitza G, et al. Tuberin activates the proapoptotic molecule BAD. Oncogene 2006; 25: 6467-6479.
-
(2006)
Oncogene
, vol.25
, pp. 6467-6479
-
-
Freilinger, A.1
Rosner, M.2
Krupitza, G.3
-
14
-
-
75549085357
-
Tsc2-Rheb signaling regulates EphA-mediated axon guidance
-
Nie D, Di Nardo A, Han JM, et al. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nat Neurosci 2010; 13: 163-172.
-
(2010)
Nat Neurosci
, vol.13
, pp. 163-172
-
-
Nie, D.1
Di Nardo, A.2
Han, J.M.3
-
15
-
-
0141705466
-
Loss of TSC1 or TSC2 induces vascular endothelial growth factor production through mammalian target of rapamycin
-
El-Hashemite N, Walker V, Zhang H, Kwiatkowski DJ. Loss of TSC1 or TSC2 induces vascular endothelial growth factor production through mammalian target of rapamycin. Cancer Res 2003; 63: 5173-5177.
-
(2003)
Cancer Res
, vol.63
, pp. 5173-5177
-
-
El-Hashemite, N.1
Walker, V.2
Zhang, H.3
Kwiatkowski, D.J.4
-
16
-
-
0346463320
-
Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker rat model of tuberous sclerosis
-
Mizuguchi M, Mori M, Nozaki Y, et al. Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker rat model of tuberous sclerosis. Acta Neuropathol 2004; 107: 47-52.
-
(2004)
Acta Neuropathol
, vol.107
, pp. 47-52
-
-
Mizuguchi, M.1
Mori, M.2
Nozaki, Y.3
-
17
-
-
33750593151
-
Renal manifestations of tuberous sclerosis complex: incidence, prognosis and predictive factors
-
Rakowski SK, Winterkom EB, Paul E, et al. Renal manifestations of tuberous sclerosis complex: incidence, prognosis and predictive factors. Kidney Int 2006; 70: 1777-1782.
-
(2006)
Kidney Int
, vol.70
, pp. 1777-1782
-
-
Rakowski, S.K.1
Winterkom, E.B.2
Paul, E.3
-
18
-
-
48549098902
-
The pathogenesis and imaging of the tuberous sclerosis complex
-
Baskin HJ Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol 2008; 38: 936-952.
-
(2008)
Pediatr Radiol
, vol.38
, pp. 936-952
-
-
Baskin Jr, H.J.1
-
19
-
-
77950556630
-
Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications
-
Tyburczy ME, Kotulska K, Pokarowski P, et al. Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implications. Am J Pathol 2010; 176: 1878-1890.
-
(2010)
Am J Pathol
, vol.176
, pp. 1878-1890
-
-
Tyburczy, M.E.1
Kotulska, K.2
Pokarowski, P.3
-
20
-
-
20344398682
-
Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation
-
Rok P, Kasprzyk-Obara J, Domanska-Pakiela D, Jozwiak S. Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. Med Sci Monit 2005; 11: 230-234.
-
(2005)
Med Sci Monit
, vol.11
, pp. 230-234
-
-
Rok, P.1
Kasprzyk-Obara, J.2
Domanska-Pakiela, D.3
Jozwiak, S.4
-
22
-
-
32144433872
-
A developmental and genetic classification for malformations of cortical development
-
Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology 2005; 65: 1873-1887.
-
(2005)
Neurology
, vol.65
, pp. 1873-1887
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Jackson, G.D.3
-
23
-
-
27344446143
-
Ultrafast MRI in the prenatal diagnosis of Bourneville's tuberous sclerosis
-
Khanna PC, Godinho S, Pungavkar SA, Patkar DP. Ultrafast MRI in the prenatal diagnosis of Bourneville's tuberous sclerosis. Neurol India 2005; 53: 349-350.
-
(2005)
Neurol India
, vol.53
, pp. 349-350
-
-
Khanna, P.C.1
Godinho, S.2
Pungavkar, S.A.3
Patkar, D.P.4
-
24
-
-
0025820358
-
Neuropsychiatric aspects of tuberous sclerosis
-
Curatolo P, Cusmai R, Cortesi F, et al. Neuropsychiatric aspects of tuberous sclerosis. Ann N Y Acad Sci 1991; 615: 8-16.
-
(1991)
Ann N Y Acad Sci
, vol.615
, pp. 8-16
-
-
Curatolo, P.1
Cusmai, R.2
Cortesi, F.3
-
25
-
-
0025786901
-
Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings
-
Jambaque I, Cusmai R, Curatolo P. Neuropsychological aspects of tuberous sclerosis in relation to epilepsy and MRI findings. Dev Med Child Neurol 1991; 33: 698-705.
-
(1991)
Dev Med Child Neurol
, vol.33
, pp. 698-705
-
-
Jambaque, I.1
Cusmai, R.2
Curatolo, P.3
-
26
-
-
31144465242
-
Prognostic significance of tuber count and location in tuberous sclerosis complex
-
Doherty C, Goh S, Young Poussaint T, et al. Prognostic significance of tuber count and location in tuberous sclerosis complex. J Child Neurol 2005; 20: 837-841.
-
(2005)
J Child Neurol
, vol.20
, pp. 837-841
-
-
Doherty, C.1
Goh, S.2
Young Poussaint, T.3
-
27
-
-
34547143034
-
Biological markers of intellectual disability in tuberous sclerosis
-
Raznahan A, Higgins NP, Griffiths PD, et al. Biological markers of intellectual disability in tuberous sclerosis. Psychol Med 2007; 37: 1293-1304.
-
(2007)
Psychol Med
, vol.37
, pp. 1293-1304
-
-
Raznahan, A.1
Higgins, N.P.2
Griffiths, P.D.3
-
28
-
-
10044259616
-
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation
-
Chan JA, Zhang H, Roberts PS, et al. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. J Neuropathol Exp Neurol 2004; 63: 1236-1242.
-
(2004)
J Neuropathol Exp Neurol
, vol.63
, pp. 1236-1242
-
-
Chan, J.A.1
Zhang, H.2
Roberts, P.S.3
-
29
-
-
33749068243
-
Tuberous sclerosis
-
Yates JRW. Tuberous sclerosis. Eur J Hum Genet 2006; 14: 1065-1073.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 1065-1073
-
-
Yates, J.R.W.1
-
30
-
-
27544493736
-
Longterm outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex
-
Ewalt DH, Diamond N, Rees C, et al. Longterm outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex. J Urol 2005; 174: 1764-1766.
-
(2005)
J Urol
, vol.174
, pp. 1764-1766
-
-
Ewalt, D.H.1
Diamond, N.2
Rees, C.3
-
31
-
-
21344472605
-
Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond
-
Henske EP. Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond. Pediatr Nephrol 2005; 20: 854-857.
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 854-857
-
-
Henske, E.P.1
-
32
-
-
0030449499
-
The kidney in tuberous sclerosis: manifestations and molecular genetic mechanisms
-
Sampson JR. The kidney in tuberous sclerosis: manifestations and molecular genetic mechanisms. Nephrol Dial Transplant 1996; 11: 34-37.
-
(1996)
Nephrol Dial Transplant
, vol.11
, pp. 34-37
-
-
Sampson, J.R.1
-
33
-
-
0029834567
-
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological and genetic features
-
Bjornssin J, Short MP, Kwiatkowski DJ, Henske EP. Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological and genetic features. Am J Pathol 1996; 149: 1201-1208.
-
(1996)
Am J Pathol
, vol.149
, pp. 1201-1208
-
-
Bjornssin, J.1
Short, M.P.2
Kwiatkowski, D.J.3
Henske, E.P.4
-
34
-
-
0036372057
-
Lymphangoleiomyomatosis: a review of the literature
-
Hancock E, Osborne J. Lymphangoleiomyomatosis: a review of the literature. Respir Med 2002; 96: 1-6.
-
(2002)
Respir Med
, vol.96
, pp. 1-6
-
-
Hancock, E.1
Osborne, J.2
-
36
-
-
70449629049
-
Cardiac tumors: the 17-year experience of pediatric cardiology department
-
Paramés F, Freitas I, Martins JD, et al. Cardiac tumors: the 17-year experience of pediatric cardiology department. Rev Port Cardiol 2009; 28: 929-940.
-
(2009)
Rev Port Cardiol
, vol.28
, pp. 929-940
-
-
Paramés, F.1
Freitas, I.2
Martins, J.D.3
-
37
-
-
33750097361
-
Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex
-
Jozwiak S, Kotulska K, Kasprzyk-Obara J, et al. Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complex. Pediatrics 2006; 118: 1146-1151.
-
(2006)
Pediatrics
, vol.118
, pp. 1146-1151
-
-
Jozwiak, S.1
Kotulska, K.2
Kasprzyk-Obara, J.3
-
38
-
-
63449100787
-
Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities
-
Kotulska K, Larysz-Brysz M, Grajkowska W, et al. Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalities. Pediatr Dev Pathol 2009; 12: 89-96.
-
(2009)
Pediatr Dev Pathol
, vol.12
, pp. 89-96
-
-
Kotulska, K.1
Larysz-Brysz, M.2
Grajkowska, W.3
-
39
-
-
75149143634
-
Recent perspectives on diagnosis and treatment of tuberous sclerosis complex in children
-
Borkowska J, Schwartz RA, Józwiak S. Recent perspectives on diagnosis and treatment of tuberous sclerosis complex in children. Int J Disability Hum Dev 2009; 8: 369-375.
-
(2009)
Int J Disability Hum Dev
, vol.8
, pp. 369-375
-
-
Borkowska, J.1
Schwartz, R.A.2
Józwiak, S.3
-
40
-
-
84888471184
-
Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes
-
In: Curatolo P, ed. London: International Child Neurology Association/MacKeith Press.
-
Józwiak S, Schwartz RA. Dermatologic and stomatologic manifestations of tuberous sclerosis. In: Curatolo P, ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. London: International Child Neurology Association/MacKeith Press, 2004: 136-169.
-
(2004)
Dermatologic and stomatologic manifestations of tuberous sclerosis
, pp. 136-169
-
-
Józwiak, S.1
Schwartz, R.A.2
-
41
-
-
78650533251
-
-
Tuberous sclerosis. [eMedicine Pediatrics.], Accessed March 9 2010].
-
Schwartz RA, Józwiak S, Pedersen R. Tuberous sclerosis. [eMedicine Pediatrics.] 2010. [Accessed March 9 2010].
-
(2010)
-
-
Schwartz, R.A.1
Józwiak, S.2
Pedersen, R.3
-
42
-
-
36048990293
-
Sirolimus (rapamycin): from the soil of Easter Island to a bright future
-
Paghdal KV, Schwartz RA. Sirolimus (rapamycin): from the soil of Easter Island to a bright future. J Am Acad Dermatol 2007; 57: 1046-1050.
-
(2007)
J Am Acad Dermatol
, vol.57
, pp. 1046-1050
-
-
Paghdal, K.V.1
Schwartz, R.A.2
-
43
-
-
11144262151
-
Effects of rapamycin in the Eker model rat of tuberous sclerosis complex
-
Kennerson H, Dundon TA, Yeung RS. Effects of rapamycin in the Eker model rat of tuberous sclerosis complex. Pediatr Res 2005; 51: 67-75.
-
(2005)
Pediatr Res
, vol.51
, pp. 67-75
-
-
Kennerson, H.1
Dundon, T.A.2
Yeung, R.S.3
-
44
-
-
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: 490-498.
-
(2006)
Ann Neurol
, vol.59
, pp. 490-498
-
-
Franz, D.N.1
Leonard, J.2
Tudor, C.3
-
45
-
-
33747608873
-
Antitumoral activity of rapamycin in renal angiomyolipoma associated with tuberous sclerosis complex
-
Wienecke R, Fackler I, Linsenmaier U, et al. Antitumoral activity of rapamycin in renal angiomyolipoma associated with tuberous sclerosis complex. Am J Kidney Dis 2006; 48: e27-e29.
-
(2006)
Am J Kidney Dis
, vol.48
-
-
Wienecke, R.1
Fackler, I.2
Linsenmaier, U.3
-
46
-
-
33846236407
-
Dramatic effect of sirolimus on renal angiomyolipomas in patients with tuberous sclerosis complex
-
Herry I, Neukirch C, Debray MP, et al. Dramatic effect of sirolimus on renal angiomyolipomas in patients with tuberous sclerosis complex. Eur J Intern Med 2007; 18: 76-77.
-
(2007)
Eur J Intern Med
, vol.18
, pp. 76-77
-
-
Herry, I.1
Neukirch, C.2
Debray, M.P.3
-
47
-
-
76749124339
-
Rapamycin (sirolimus) in tuberous sclerosis-associated pediatric central nervous system tumors
-
Lam C, Bouffet E, Tabori U, et al. Rapamycin (sirolimus) in tuberous sclerosis-associated pediatric central nervous system tumors. Pediatr Blood Cancer 2010; 54: 476-479.
-
(2010)
Pediatr Blood Cancer
, vol.54
, pp. 476-479
-
-
Lam, C.1
Bouffet, E.2
Tabori, U.3
-
48
-
-
38049169559
-
Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
-
Bissler JJ, McCormack FX, Young LR, et al. Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis. N Engl J Med 2008; 358: 140-151.
-
(2008)
N Engl J Med
, vol.358
, pp. 140-151
-
-
Bissler, J.J.1
McCormack, F.X.2
Young, L.R.3
-
49
-
-
64249118425
-
Rapamycin reduces seizure frequency in tuberous sclerosis complex
-
Muncy J, Butler IJ, Koenig MK. Rapamycin reduces seizure frequency in tuberous sclerosis complex. J Child Neurol 2009; 24: 477.
-
(2009)
J Child Neurol
, vol.24
, pp. 477
-
-
Muncy, J.1
Butler, I.J.2
Koenig, M.K.3
-
50
-
-
42949140259
-
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
-
Zheng LH, Xu L, Gutman DH, Wong M. Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex. Ann Neurol 2008; 63: 444-453.
-
(2008)
Ann Neurol
, vol.63
, pp. 444-453
-
-
Zheng, L.H.1
Xu, L.2
Gutman, D.H.3
Wong, M.4
-
51
-
-
68349100270
-
Rapamycin suppresses seizures and neuronal hyphertrophy in a mouse model of cortical dysplasia
-
Ljungberg MC, Sunnen CN, Lugo JN, et al. Rapamycin suppresses seizures and neuronal hyphertrophy in a mouse model of cortical dysplasia. Dis Model Mech 2009; 2: 389-398.
-
(2009)
Dis Model Mech
, vol.2
, pp. 389-398
-
-
Ljungberg, M.C.1
Sunnen, C.N.2
Lugo, J.N.3
-
52
-
-
49149088555
-
Reversal of learning deficits in a Tsc (+/-) mouse model of tuberous sclerosis
-
Ehninger D, Han S, Shilyansky C, et al. Reversal of learning deficits in a Tsc (+/-) mouse model of tuberous sclerosis. Nat Med 2008; 14: 843-848.
-
(2008)
Nat Med
, vol.14
, pp. 843-848
-
-
Ehninger, D.1
Han, S.2
Shilyansky, C.3
-
53
-
-
47549093135
-
The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis
-
Hofbauer GF, Marcollo-Pini A, Corsenca A, et al. The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. Br J Dermatol 2008; 159: 473-475.
-
(2008)
Br J Dermatol
, vol.159
, pp. 473-475
-
-
Hofbauer, G.F.1
Marcollo-Pini, A.2
Corsenca, A.3
-
54
-
-
41449112167
-
Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model
-
Rauktys A, Lee N, Lee L, Dabora S. Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model. BMC Dermatol 2008; 8: 1-9.
-
(2008)
BMC Dermatol
, vol.8
, pp. 1-9
-
-
Rauktys, A.1
Lee, N.2
Lee, L.3
Dabora, S.4
-
55
-
-
77954830298
-
Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis
-
Haemel AK, O'Brian AL, Teng JM. Topical rapamycin: a novel approach to facial angiofibromas in tuberous sclerosis. Arch Dermatol 2010; 146: 715-718.
-
(2010)
Arch Dermatol
, vol.146
, pp. 715-718
-
-
Haemel, A.K.1
O'Brian, A.L.2
Teng, J.M.3
|