-
1
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
DOI 10.1126/science.277.5327.805
-
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. (Pubitemid 27366729)
-
(1997)
Science
, vol.277
, Issue.5327
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
Lindhout, D.7
Van Den Ouweland, A.8
Halley, D.9
Young, J.10
Burley, M.11
Jeremiah, S.12
Woodward, K.13
Nahmias, J.14
Fox, M.15
Ekong, R.16
Osborne, J.17
Wolfe, J.18
Povey, S.19
Snell, R.G.20
Cheadle, J.P.21
Jones, A.C.22
Tachataki, M.23
Ravine, D.24
Sampson, J.R.25
Reeve, M.P.26
Richardson, P.27
Wilmer, F.28
Munro, C.29
Hawkins, T.L.30
Sepp, T.31
Ali, J.B.M.32
Ward, S.33
Green, A.J.34
Yates, J.R.W.35
Kwiatkowska, J.36
Henske, E.P.37
Short, M.P.38
Haines, J.H.39
Jozwiak, S.40
Kwiatkowski, D.J.41
more..
-
2
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium.
-
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
-
-
-
3
-
-
0043127125
-
Rheb GTpase is a direct target of TSC2 GAP activity and regulates mTOR signaling
-
DOI 10.1101/gad.1110003
-
Inoki K, Li Y, Xu T, Guan KL,. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev 2003; 17: 1829-34. (Pubitemid 36944560)
-
(2003)
Genes and Development
, vol.17
, Issue.15
, pp. 1829-1834
-
-
Inoki, K.1
Li, Y.2
Xu, T.3
Guan, K.-L.4
-
4
-
-
33644827461
-
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
-
DOI 10.1002/ana.20784
-
Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in tuberous sclerosis complex. Ann Neurol 2006; 59: 490-8. (Pubitemid 43358069)
-
(2006)
Annals of Neurology
, vol.59
, Issue.3
, pp. 490-498
-
-
Franz, D.N.1
Leonard, J.2
Tudor, C.3
Chuck, G.4
Care, M.5
Sethuraman, G.6
Dinopoulos, A.7
Thomas, G.8
Crone, K.R.9
-
5
-
-
33846236407
-
Dramatic effect of sirolimus on renal angiomyolipomas in a patient with tuberous sclerosis complex
-
DOI 10.1016/j.ejim.2006.07.017, PII S095362050600241X
-
Herry I, Neukirch C, Debray MP, et al. Dramatic effect of sirolimus on renal angiomyolipomas in a patient with tuberous sclerosis complex. Eur J Intern Med 2007; 18: 76-7. (Pubitemid 46091655)
-
(2007)
European Journal of Internal Medicine
, vol.18
, Issue.1
, pp. 76-77
-
-
Herry, I.1
Neukirch, C.2
Debray, M.-P.3
Mignon, F.4
Crestani, B.5
-
6
-
-
34248334701
-
Sirolimus treatment for pulmonary lymphangioleiomyomatosis
-
Taille C, Debray MP, Crestani B,. Sirolimus treatment for pulmonary lymphangioleiomyomatosis. Ann Intern Med 2007; 146: 687-8. (Pubitemid 351650533)
-
(2007)
Annals of Internal Medicine
, vol.146
, Issue.9
, pp. 687-688
-
-
Taille, C.1
Debray, M.-P.2
Crestani, B.3
-
7
-
-
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: 140-51.
-
(2008)
N Engl J Med
, vol.358
, pp. 140-151
-
-
Bissler, J.J.1
McCormack, F.X.2
Young, L.R.3
-
8
-
-
47549093135
-
The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis
-
DOI 10.1111/j.1365-2133.2008.08677.x
-
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: 473-5. (Pubitemid 352009863)
-
(2008)
British Journal of Dermatology
, vol.159
, Issue.2
, pp. 473-475
-
-
Hofbauer, G.F.L.1
Marcollo-Pini, A.2
Corsenca, A.3
Kistler, A.D.4
French, L.E.5
Wuthrich, R.P.6
Serra, A.L.7
-
9
-
-
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: 715-18.
-
(2010)
Arch Dermatol
, vol.146
, pp. 715-718
-
-
Haemel, A.K.1
O'Brian, A.L.2
Teng, J.M.3
-
10
-
-
79956101097
-
Successful treatment of angiofibromata of tuberous sclerosis complex with rapamycin
-
[Epub ahead of print]
-
Kaufman McNamara E, Curtis AR, Fleischer AB Jr,. Successful treatment of angiofibromata of tuberous sclerosis complex with rapamycin. J Dermatolog Treat 2010 [Epub ahead of print]
-
(2010)
J Dermatolog Treat
-
-
Kaufman McNamara, E.1
Curtis, A.R.2
Fleischer, Jr.A.B.3
-
11
-
-
0032438210
-
Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
-
Roach ES, Gomez MR, Northrup H,. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-8. (Pubitemid 29035481)
-
(1998)
Journal of Child Neurology
, vol.13
, Issue.12
, pp. 624-628
-
-
Roach, E.S.1
Gomez, M.R.2
Northrup, H.3
-
12
-
-
65349086151
-
Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1
-
Brems H, Beert E, de Ravel T, Legius E,. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 2009; 10: 508-15.
-
(2009)
Lancet Oncol
, vol.10
, pp. 508-515
-
-
Brems, H.1
Beert, E.2
De Ravel, T.3
Legius, E.4
-
13
-
-
70849136880
-
Birt-Hogg-Dubé syndrome: Diagnosis and management
-
Menko FH, van Steensel MA, Giraud S, et al. Birt-Hogg-Dubé syndrome: diagnosis and management. Lancet Oncol 2009; 10: 1199-206.
-
(2009)
Lancet Oncol
, vol.10
, pp. 1199-1206
-
-
Menko, F.H.1
Van Steensel, M.A.2
Giraud, S.3
|