-
1
-
-
38549114749
-
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome
-
Ammerlaan ACJ, Ararou A, Houben MPWA, Baas F, Tijssen CC, Teepen JLJM, Wesseling P, Hulsebos TJM. 2008. Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome. Br J Cancer 98:474-479.
-
(2008)
Br J Cancer
, vol.98
, pp. 474-479
-
-
Ammerlaan, A.C.J.1
Ararou, A.2
Houben, M.P.W.A.3
Baas, F.4
Tijssen, C.C.5
Teepen, J.L.J.M.6
Wesseling, P.7
Hulsebos, T.J.M.8
-
2
-
-
33646104935
-
Molecular genetics of atypical teratoid/rhabdoid tumor
-
Biegel JA. 2006. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 20:E11.
-
(2006)
Neurosurg Focus
, vol.20
-
-
Biegel, J.A.1
-
3
-
-
0036849922
-
Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors
-
Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB. 2002. Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res 8:3461-3467.
-
(2002)
Clin Cancer Res
, vol.8
, pp. 3461-3467
-
-
Biegel, J.A.1
Tan, L.2
Zhang, F.3
Wainwright, L.4
Russo, P.5
Rorke, L.B.6
-
4
-
-
52449103743
-
Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis
-
Boyd C, Smith M, Kluwe L, Balogh A, Maccollin M, Plotkin S. 2008. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 74:358-366.
-
(2008)
Clin Genet
, vol.74
, pp. 358-366
-
-
Boyd, C.1
Smith, M.2
Kluwe, L.3
Balogh, A.4
Maccollin, M.5
Plotkin, S.6
-
5
-
-
66249103414
-
ATRT 12. Results from a single-arm, multiinstitutional phase II study of multiagentintrathecal and systemic chemotherapy with age- and risk-adapted radiation therapy for children with newly diagnosed CNS atypical teratoid/rhabdoid tumor (DFCI 02-294)
-
Chi S, Fletcher W, Yao X, Cohen K, Fisher M, Biegel J, Janss A, Goldman S, Bowers D, Manley P, Masewski C, Bendel A, Rubin J, Turner CD, Roberts C, Marcus K, Goumnerova L, Ullrich N, Chordas C, Zimmerman MA, Kieran MW. 2008. ATRT 12. Results from a single-arm, multiinstitutional phase II study of multiagentintrathecal and systemic chemotherapy with age- and risk-adapted radiation therapy for children with newly diagnosed CNS atypical teratoid/rhabdoid tumor (DFCI 02-294). Neuro-Oncology 10:373.
-
(2008)
Neuro-Oncology
, vol.10
, pp. 373
-
-
Chi, S.1
Fletcher, W.2
Yao, X.3
Cohen, K.4
Fisher, M.5
Biegel, J.6
Janss, A.7
Goldman, S.8
Bowers, D.9
Manley, P.10
Masewski, C.11
Bendel, A.12
Rubin, J.13
Turner, C.D.14
Roberts, C.15
Marcus, K.16
Goumnerova, L.17
Ullrich, N.18
Chordas, C.19
Zimmerman, M.A.20
Kieran, M.W.21
more..
-
6
-
-
33746642122
-
Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome
-
Frühwald MC, Hasselblatt M, Wirth S, Köhler G, Schneppenheim R, Subero JIM, Siebert R, Kordes U, Jürgens H, Vormoor J. 2006. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer 47:273-278.
-
(2006)
Pediatr Blood Cancer
, vol.47
, pp. 273-278
-
-
Frühwald, M.C.1
Hasselblatt, M.2
Wirth, S.3
Köhler, G.4
Schneppenheim, R.5
Subero, J.I.M.6
Siebert, R.7
Kordes, U.8
Jürgens, H.9
Vormoor, J.10
-
7
-
-
45549097772
-
Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors
-
Gardner SL, Asgharzadeh S, Green A, Horn B, McCowage G, Finlay J. 2008. Intensive induction chemotherapy followed by high dose chemotherapy with autologous hematopoietic progenitor cell rescue in young children newly diagnosed with central nervous system atypical teratoid rhabdoid tumors. Pediatr Blood Cancer 51:235-240.
-
(2008)
Pediatr Blood Cancer
, vol.51
, pp. 235-240
-
-
Gardner, S.L.1
Asgharzadeh, S.2
Green, A.3
Horn, B.4
McCowage, G.5
Finlay, J.6
-
8
-
-
33750431056
-
Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype
-
Haberler C, Laggner U, Slavc I, Czech T, Ambros IM, Ambros PF, Budka H, Hainfellner JA. 2006. Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: Lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. Am J Surg Pathol 30:1462-1468.
-
(2006)
Am J Surg Pathol
, vol.30
, pp. 1462-1468
-
-
Haberler, C.1
Laggner, U.2
Slavc, I.3
Czech, T.4
Ambros, I.M.5
Ambros, P.F.6
Budka, H.7
Hainfellner, J.A.8
-
9
-
-
45249094753
-
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
-
Hadfield KD, Newman WG, Bowers NL, Wallace A, Bolger C, Colley A, McCann E, Trump D, Prescott T, Evans DGR. 2008. Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet 45:332-339.
-
(2008)
J Med Genet
, vol.45
, pp. 332-339
-
-
Hadfield, K.D.1
Newman, W.G.2
Bowers, N.L.3
Wallace, A.4
Bolger, C.5
Colley, A.6
McCann, E.7
Trump, D.8
Prescott, T.9
Evans, D.G.R.10
-
10
-
-
34547813165
-
Highdensity single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor
-
Jackson E, Shaikh T, Gururangan S, Jones M, Malkin D, Nikkel S, Zuppan C, Wainwright L, Zhang F, Biegel J. 2007. Highdensity single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet 122:117-127.
-
(2007)
Hum Genet
, vol.122
, pp. 117-127
-
-
Jackson, E.1
Shaikh, T.2
Gururangan, S.3
Jones, M.4
Malkin, D.5
Nikkel, S.6
Zuppan, C.7
Wainwright, L.8
Zhang, F.9
Biegel, J.10
-
11
-
-
33746594132
-
Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation
-
Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, Pridjian G, Tan L, Judkins AR, Biegel JA. 2006. Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer 47:279-284.
-
(2006)
Pediatr Blood Cancer
, vol.47
, pp. 279-284
-
-
Janson, K.1
Nedzi, L.A.2
David, O.3
Schorin, M.4
Walsh, J.W.5
Bhattacharjee, M.6
Pridjian, G.7
Tan, L.8
Judkins, A.R.9
Biegel, J.A.10
-
12
-
-
2342537841
-
Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms
-
Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA. 2004. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644-650.
-
(2004)
Am J Surg Pathol
, vol.28
, pp. 644-650
-
-
Judkins, A.R.1
Mauger, J.2
Ht, A.3
Rorke, L.B.4
Biegel, J.A.5
-
13
-
-
53549095222
-
Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability
-
McKenna ES, Sansam CG, Cho YJ, Greulich H, Evans JA, Thom CS, Moreau LA, Biegel JA, Pomeroy SL, Roberts CWM. 2008. Loss of the epigenetic tumor suppressor SNF5 leads to cancer without genomic instability. Mol Cell Biol 28:6223-6233.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 6223-6233
-
-
McKenna, E.S.1
Sansam, C.G.2
Cho, Y.J.3
Greulich, H.4
Evans, J.A.5
Thom, C.S.6
Moreau, L.A.7
Biegel, J.A.8
Pomeroy, S.L.9
Roberts, C.W.M.10
-
14
-
-
23044466575
-
INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas
-
Perry A, Fuller CE, Judkins AR, Dehner LP, Biegel JA. 2005. INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol 18:951-958.
-
(2005)
Mod Pathol
, vol.18
, pp. 951-958
-
-
Perry, A.1
Fuller, C.E.2
Judkins, A.R.3
Dehner, L.P.4
Biegel, J.A.5
-
15
-
-
1042290351
-
The SWI/SNF complex-chromatin and cancer
-
Roberts CW, Orkin SH. 2004. The SWI/SNF complex-chromatin and cancer. Nat Rev Cancer 4:133-142.
-
(2004)
Nat Rev Cancer
, vol.4
, pp. 133-142
-
-
Roberts, C.W.1
Orkin, S.H.2
-
16
-
-
0034685535
-
Mutations of the hSNF5/INI1 gene in renal rhabdoid tumors with second primary brain tumors
-
Savla J, Chen TT, Schneider NR, Timmons CF, Delattre O, Tomlinson GE. 2000. Mutations of the hSNF5/INI1 gene in renal rhabdoid tumors with second primary brain tumors. J Natl Cancer Inst 92:648-650.
-
(2000)
J Natl Cancer Inst
, vol.92
, pp. 648-650
-
-
Savla, J.1
Chen, T.T.2
Schneider, N.R.3
Timmons, C.F.4
Delattre, O.5
Tomlinson, G.E.6
-
17
-
-
38949137888
-
Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas
-
Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L. 2008. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29:227-231.
-
(2008)
Hum Mutat
, vol.29
, pp. 227-231
-
-
Sestini, R.1
Bacci, C.2
Provenzano, A.3
Genuardi, M.4
Papi, L.5
-
18
-
-
0345581429
-
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations
-
Sevenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O. 1999a. Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum Mol Genet 8:2359-2368.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2359-2368
-
-
Sevenet, N.1
Lellouch-Tubiana, A.2
Schofield, D.3
Hoang-Xuan, K.4
Gessler, M.5
Birnbaum, D.6
Jeanpierre, C.7
Jouvet, A.8
Delattre, O.9
-
19
-
-
2042432488
-
Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers
-
Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O. 1999b. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65:1342-1348.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1342-1348
-
-
Sevenet, N.1
Sheridan, E.2
Amram, D.3
Schneider, P.4
Handgretinger, R.5
Delattre, O.6
-
20
-
-
58549117718
-
Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1
-
Swensen JJ, Keyser J, Coffin CM, Biegel JA, Viskochil DH, Williams MS. 2009. Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1. J Med Genet 46:68-72.
-
(2009)
J Med Genet
, vol.46
, pp. 68-72
-
-
Swensen, J.J.1
Keyser, J.2
Coffin, C.M.3
Biegel, J.A.4
Viskochil, D.H.5
Williams, M.S.6
-
21
-
-
0033912065
-
Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene
-
Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT. 2000. Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. Am J Hum Genet 66:1403-1406.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1403-1406
-
-
Taylor, M.D.1
Gokgoz, N.2
Andrulis, I.L.3
Mainprize, T.G.4
Drake, J.M.5
Rutka, J.T.6
-
22
-
-
20144383987
-
Atypical teratoid/rhabdoid tumors (ATRT): Improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy
-
Tekautz TM, Fuller CE, Blaney S, Fouladi M, Broniscer A, Merchant TE, Krasin M, Dalton J, Hale G, Kun LE, Wallace D, Gilbertson RJ, Gajjar A. 2005. Atypical teratoid/rhabdoid tumors (ATRT): Improved survival in children 3 years of age and older with radiation therapy and high-dose alkylator-based chemotherapy. J Clin Oncol 23:1491-1499.
-
(2005)
J Clin Oncol
, vol.23
, pp. 1491-1499
-
-
Tekautz, T.M.1
Fuller, C.E.2
Blaney, S.3
Fouladi, M.4
Broniscer, A.5
Merchant, T.E.6
Krasin, M.7
Dalton, J.8
Hale, G.9
Kun, L.E.10
Wallace, D.11
Gilbertson, R.J.12
Gajjar, A.13
-
23
-
-
2642647094
-
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
-
Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O. 1998. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203-206.
-
(1998)
Nature
, vol.394
, pp. 203-206
-
-
Versteege, I.1
Sevenet, N.2
Lange, J.3
Rousseau-Merck, M.F.4
Ambros, P.5
Handgretinger, R.6
Aurias, A.7
Delattre, O.8
-
24
-
-
0036073770
-
No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors
-
Zhang F, Tan L, Wainwright LM, Bartolomei MS, and Biegel JA, . 2002. No evidence for hypermethylation of the hSNF5/INI1 promoter in pediatric rhabdoid tumors. Genes Chromosomes Cancer 34:398-405.
-
(2002)
Genes Chromosomes Cancer
, vol.34
, pp. 398-405
-
-
Zhang, F.1
Tan, L.2
Wainwright, L.M.3
Bartolomei, M.S.4
Biegel, J.A.5
|