-
1
-
-
33847057994
-
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
-
DOI 10.1097/GIM.0b013e31803068c7, PII 0012581720070200000006
-
Au K, Williams AT, Roach E, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H 2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 9 : 88 100. (Pubitemid 46272471)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.2
, pp. 88-100
-
-
Au, K.S.1
Williams, A.T.2
Roach, E.S.3
Batchelor, L.4
Sparagana, S.P.5
Delgado, M.R.6
Wheless, J.W.7
Baumgartner, J.E.8
Roa, B.B.9
Wilson, C.M.10
Smith-Knuppel, T.K.11
Cheung, M.-Y.C.12
Whittemore, V.H.13
King, T.M.14
Northrup, H.15
-
2
-
-
0035956478
-
Classification system for malformations of cortical development: Update 2001
-
Barkovich AJ, Kuzniecky RI, Jackson G, Guerrini R, Dobyns WB 2001) Classification system for malformations of cortical development, Update 2001. Neurology 57 : 2168 2178. (Pubitemid 34016447)
-
(2001)
Neurology
, vol.57
, Issue.12
, pp. 2168-2178
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Jackson, G.D.3
Guerrini, R.4
Dobyns, W.B.5
-
3
-
-
4844231148
-
mTOR cascade activation distinguishes tubers from focal cortical dysplasia
-
DOI 10.1002/ana.20211
-
Baybis M, Yu J, Lee A, Golden JA, Weiner H, McKhann G, II., Aronica E, Crino PB 2004) mTOR cascade activation distinguishes tubers from focal cortical dysplasia. Ann Neurol 56 : 478 487. (Pubitemid 39319337)
-
(2004)
Annals of Neurology
, vol.56
, Issue.4
, pp. 478-487
-
-
Baybis, M.1
Yu, J.2
Lee, A.3
Golden, J.A.4
Weiner, H.5
McKhann II, G.6
Aronica, E.7
Crino, P.B.8
-
4
-
-
0036294216
-
Focal cortical dysplasia of Taylor's balloon cell type: Mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis
-
DOI 10.1002/ana.10251
-
Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blümcke I 2002) Focal cortical dysplasia of Taylor's balloon cell type: Mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 52 : 29 37. (Pubitemid 34693740)
-
(2002)
Annals of Neurology
, vol.52
, Issue.1
, pp. 29-37
-
-
Becker, A.J.1
Urbach, H.2
Scheffler, B.3
Baden, T.4
Normann, S.5
Lahl, R.6
Pannek, H.W.7
Tuxhorn, I.8
Elger, C.E.9
Schramm, J.10
Wiestler, O.D.11
Blumcke, I.12
-
5
-
-
0028012369
-
A device for processing large acrylamide gels
-
Bender B, Wiestler OD, von Deimling A 1994) A device for processing large acrylamide gels. Biotechniques 16 : 204 206. (Pubitemid 24056140)
-
(1994)
BioTechniques
, vol.16
, Issue.2
, pp. 204-206
-
-
Bender, B.1
Wiestler, O.D.2
Von Deimling, A.3
-
7
-
-
33745699801
-
Clinical characteristics in focal cortical dysplasia: A retrospective evaluation in a series of 120 patients
-
DOI 10.1093/brain/awl133
-
Fauser S, Huppertz H-J, Bast T, Strobl K, Pantazis G, Altenmueller DM, Fei B, Rona S, Kurth C, Rating D, Korinthenberg R, Steinhoff BJ, Volk B, Schulze-Bonhage A 2006) Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients. Brain 129 : 1907 1916. (Pubitemid 43999421)
-
(2006)
Brain
, vol.129
, Issue.7
, pp. 1907-1916
-
-
Fauser, S.1
Huppertz, H.-J.2
Bast, T.3
Strobl, K.4
Pantazis, G.5
Altenmueller, D.-M.6
Feil, B.7
Rona, S.8
Kurth, C.9
Rating, D.10
Korinthenberg, R.11
Steinhoff, B.J.12
Volk, B.13
Schulze-Bonhage, A.14
-
8
-
-
0032129459
-
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene
-
Gilbert JR, Guy V, Kumar A, Wolpert C, Kandt R, Aylesworth A, Roses AD, Pericak-Vance MA 1998) Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. Neurogenetics 1 : 267 272. (Pubitemid 128685083)
-
(1998)
Neurogenetics
, vol.1
, Issue.4
, pp. 267-272
-
-
Gilbert, J.R.1
Guy, V.2
Kumar, A.3
Wolpert, C.4
Kandt, R.5
Aylesworth, A.6
Roses, A.D.7
Pericak-Vance, M.A.8
-
9
-
-
0029831886
-
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions
-
Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, van Slegtenhorst M, Welsh CT, Kwiatkowski DJ 1996) Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 59 : 400 406. (Pubitemid 26266356)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.2
, pp. 400-406
-
-
Henske, E.P.1
Scheithauer, B.W.2
Short, M.P.3
Wollmann, R.4
Nahmias, J.5
Hornigold, N.6
Van Slegtenhorst, M.7
Welsh, C.T.8
Kwiatkowski, D.J.9
-
10
-
-
0030725540
-
Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors
-
Henske EP, Wessner LL, Golden J, Scheithauer BW, Vortmeyer AO, Zhuang Z, Klein-Szanto AJ, Kwiatkowski DJ, Yeung RS 1997) Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol 151 : 1639 1647. (Pubitemid 27527926)
-
(1997)
American Journal of Pathology
, vol.151
, Issue.6
, pp. 1639-1647
-
-
Henske, E.P.1
Wessner, L.L.2
Golden, J.3
Scheithauer, B.W.4
Vortmeyer, A.O.5
Zhuang, Z.6
Klein-Szanto, A.J.P.7
Kwiatkowski, D.J.8
Yeung, R.S.9
-
11
-
-
26944463473
-
A case of solitary subependymal giant cell astrocytoma: Two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism
-
Ichikawa T, Wakisaka A, Daido S, Takao S, Tamiya T, Date I, Koizumi S, Niida Y 2005) A case of solitary subependymal giant cell astrocytoma: two somatic hits of TDC2 in the tumor, without evidence of somatic mosaicism. J Mol Diagn 7 : 544 549. (Pubitemid 41479721)
-
(2005)
Journal of Molecular Diagnostics
, vol.7
, Issue.4
, pp. 544-549
-
-
Ichikawa, T.1
Wakisaka, A.2
Daido, S.3
Takao, S.4
Tamiya, T.5
Date, I.6
Koizumi, S.7
Niida, Y.8
-
12
-
-
33845308278
-
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
-
DOI 10.1002/ana.21037
-
Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E 2006) Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol 60 : 528 539. (Pubitemid 44871795)
-
(2006)
Annals of Neurology
, vol.60
, Issue.5
, pp. 528-539
-
-
Jansen, A.C.1
Sancak, O.2
D'Agostino, M.D.3
Badhwar, A.4
Roberts, P.5
Gobbi, G.6
Wilkinson, R.7
Melanson, D.8
Tampieri, D.9
Koenekoop, R.10
Gans, M.11
Maat-Kievit, A.12
Goedbloed, M.13
Van Den Ouweland, A.M.W.14
Nellist, M.15
Pandolfo, M.16
McQueen, M.17
Sims, K.18
Thiele, E.A.19
Dubeau, F.20
Andermann, F.21
Kwiatkowski, D.J.22
Halley, D.J.J.23
Andermann, E.24
more..
-
13
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2 - And phenotypic correlations in 150 families with tuberous sclerosis
-
DOI 10.1086/302381
-
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP 1999) Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlation in 150 families with tuberous sclerosis. Am J Hum Genet 64 : 1305 1315. (Pubitemid 30468748)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.5
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
Maynard, J.4
Idziaszczyk, S.5
Tomkins, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
14
-
-
23844434440
-
Giant cells: Contradiction to two-hit model of tuber formation?
-
Jozwiak J, Jozwiak S 2005) Giant cells: contradiction to two-hit model of tuber formation? Cell Mol Neurobiol 25 : 795 805.
-
(2005)
Cell Mol Neurobiol
, vol.25
, pp. 795-805
-
-
Jozwiak, J.1
Jozwiak, S.2
-
15
-
-
0027516957
-
Magnetic resonance imaging in childhood intractable partial epilepsies: Pathologic correlations
-
Kuzniecky R, Murro A, King D, Morawetz R, Smith J, Powers R, Yaghmai F, Faught E, Gallagher B, Snead OC 1993) Magnetic resonance imaging in childhood intractable partial epilepsies: pathologic correlations. Neurology 43 : 681 687. (Pubitemid 23121956)
-
(1993)
Neurology
, vol.43
, Issue.4
, pp. 681-687
-
-
Kuzniecky, R.1
Murro, A.2
King, D.3
Morawetz, R.4
Smith, J.5
Powers, R.6
Yaghmai, F.7
Faught, E.8
Gallagher, B.9
Snead, O.C.10
-
16
-
-
0033775869
-
The TSC1 tumor suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
-
Lamb RF, Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A 2000) The TSC1 tumor suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol 2 : 281 287.
-
(2000)
Nat Cell Biol
, vol.2
, pp. 281-287
-
-
Lamb, R.F.1
Roy, C.2
Diefenbach, T.J.3
Vinters, H.V.4
Johnson, M.W.5
Jay, D.G.6
Hall, A.7
-
17
-
-
22244447062
-
Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells
-
Majores M, Blümcke I, Urbach H, Meroni A, Hans V, Holthausen H, Elger CE, Schramm J, Galli C, Spreafico R, Wiestler OD, Becker AJ 2005) Distinct allelic variants of TSC1 and TSC2 in epilepsy-associated cortical malformations without balloon cells. J Neuropathol Exp Neurol 63 : 629 637. (Pubitemid 40995278)
-
(2005)
Journal of Neuropathology and Experimental Neurology
, vol.64
, Issue.7
, pp. 629-637
-
-
Majores, M.1
Blumcke, I.2
Urbach, H.3
Meroni, A.4
Hans, V.5
Holthausen, H.6
Elger, C.E.7
Schramm, J.8
Galli, C.9
Spreafico, R.10
Wiestler, O.D.11
Becker, A.J.12
-
18
-
-
0033861013
-
The TSC1 gene product, hamartin, negatively regulates cell proliferation
-
Miloloza A, Rosner M, Nellist M, Halley D, Bernaschek G, Hengstschläger M 2000) The TSC1 gene product, hamartin, negatively regulates cell proliferation. Hum Mol Genet 9 : 1721 1727. (Pubitemid 30608605)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.12
, pp. 1721-1727
-
-
Miloloza, A.1
Rosner, M.2
Nellist, M.3
Halley, D.4
Bernaschek, G.5
Hengstschlager, M.6
-
19
-
-
4844219873
-
Insulin signaling pathways in cortical dysplasia and TSC-tubers: Tissue microarray analysis
-
DOI 10.1002/ana.20234
-
Miyata H, Chiang ACY, Vinters HV 2004) Insulin signalling pathways in cortical dysplasia and TSC-tubers: tissue microarray analysis. Ann Neurol 56 : 510 519. (Pubitemid 39319341)
-
(2004)
Annals of Neurology
, vol.56
, Issue.4
, pp. 510-519
-
-
Miyata, H.1
Chiang, A.C.Y.2
Vinters, H.V.3
-
20
-
-
0347626243
-
Tuberous sclerosis complex: Genetics to pathogenesis
-
DOI 10.1016/j.pediatrneurol.2003.09.002
-
Narayanan V 2003) Tuberous sclerosis complex: genetics to pathogenesis. Pediatr Neurol 29 : 404 409. (Pubitemid 37543675)
-
(2003)
Pediatric Neurology
, vol.29
, Issue.5
, pp. 404-409
-
-
Narayanan, V.1
-
21
-
-
0032726851
-
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
-
DOI 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K
-
Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L 1999) Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with Tuberous Sclerosis. Hum Mut 14 : 412 422. (Pubitemid 29529546)
-
(1999)
Human Mutation
, vol.14
, Issue.5
, pp. 412-422
-
-
Niida, Y.1
Lawrence-Smith, N.2
Banwell, A.3
Hammer, E.4
Lewis, J.5
Beauchamp, R.L.6
Sims, K.7
Ramesh, V.8
Ozelius, L.9
-
22
-
-
0034887907
-
Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions
-
DOI 10.1086/321972
-
Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V 2001) Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet 69 : 493 503. (Pubitemid 32777689)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.3
, pp. 493-503
-
-
Niida, Y.1
Stemmer-Rachamimov, A.O.2
Logrip, M.3
Tapon, D.4
Perez, R.5
Kwiatkowski, D.J.6
Sims, K.7
MacCollin, M.8
Louis, D.N.9
Ramesh, V.10
-
24
-
-
12144288765
-
Terminology and classification of the cortical dysplasias
-
Palmini A, Najm I, Avanzini G, Babb T, Guerrini R, Foldvary-Schaefer N, Jackson G, Lüders HO, Prayson R, Spreafico R, Vinters HV 2004) Terminology and classification of the cortical dysplasias. Neurology 62 : 2 8.
-
(2004)
Neurology
, vol.62
, pp. 2-8
-
-
Palmini, A.1
Najm, I.2
Avanzini, G.3
Babb, T.4
Guerrini, R.5
Foldvary-Schaefer, N.6
Jackson, G.7
Lüders, H.O.8
Prayson, R.9
Spreafico, R.10
Vinters, H.V.11
-
25
-
-
0035805162
-
Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size
-
DOI 10.1016/S0092-8674(01)00333-6
-
Potter CJ, Huang H, Xu T 2001) Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size. Cell 10 : 357 368. (Pubitemid 32455342)
-
(2001)
Cell
, vol.105
, Issue.3
, pp. 357-368
-
-
Potter, C.J.1
Huang, H.2
Xu, T.3
-
26
-
-
0032438210
-
Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
-
Roach ES, Gomez MR, Northrup H 1998) Tuberose Sclerosis Complex Consensus Conference: revised clinical diagnostic criteria. J Child Neurol 13 : 624 628. (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
-
27
-
-
0033358599
-
Germ-line mosaicism in tuberous sclerosis: How common?
-
DOI 10.1086/302322
-
Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H 1999) Germ-line mosaicism in tuberous sclerosis: how common? Am J Hum Genet 64 : 986 992. (Pubitemid 30463029)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.4
, pp. 986-992
-
-
Rose, V.M.1
Au, K.-S.2
Pollom, G.3
Roach, E.S.4
Prashner, H.R.5
Northrup, H.6
-
28
-
-
0031744007
-
Is the underlying cause of epilepsy a major prognostic factor for recurrence?
-
Semah F, Picot MC, Adam C, Broglin D, Arzimanoglou A, Bazin B, Cavalcanti D, Baulac M 1998) Is the underlying cause of epilepsy a major prognostic factor for recurrence? Neurology 51 : 1256 1262. (Pubitemid 28520540)
-
(1998)
Neurology
, vol.51
, Issue.5
, pp. 1256-1262
-
-
Semah, F.1
Picot, M.-C.2
Adam, C.3
Broglin, D.4
Arzimanoglou, A.5
Bazin, B.6
Cavalcanti, D.7
Baulac, M.8
-
30
-
-
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, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ 1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277 : 805 808. (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..
-
31
-
-
0033361939
-
High rate of mosaicism in tuberous sclerosis complex
-
DOI 10.1086/302412
-
Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen L, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM 1999) High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 00 : 1632 1637. (Pubitemid 30481514)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.6
, pp. 1632-1637
-
-
Verhoef, S.1
Bakker, L.2
Tempelaars, A.M.P.3
Hesseling-Janssen, A.L.W.4
Mazurczak, T.5
Jozwiak, S.6
Fois, A.7
Bartalini, G.8
Zonnenberg, B.A.9
Van Essen, A.J.10
Lindhout, D.11
Halley, D.J.J.12
Van Den Ouweland, A.M.W.13
|