-
1
-
-
84870198562
-
NF1 Mutational Spectrum
-
Karger: Monogr Hum Genet, Kaufmann D
-
Messiaen L, Wimmer K. NF1 Mutational Spectrum. Neurofibromatoses volume 16 2008, 63-77. Karger: Monogr Hum Genet, Kaufmann D.
-
(2008)
Neurofibromatoses volume 16
, pp. 63-77
-
-
Messiaen, L.1
Wimmer, K.2
-
2
-
-
1042299966
-
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
-
Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner VF. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. Hum Mutat 2004, 23:111-116.
-
(2004)
Hum Mutat
, vol.23
, pp. 111-116
-
-
Kluwe, L.1
Siebert, R.2
Gesk, S.3
Friedrich, R.E.4
Tinschert, S.5
Kehrer-Sawatzki, H.6
Mautner, V.F.7
-
3
-
-
79959910771
-
Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development
-
Le LQ, Liu C, Shipman T, Chen Z, Suter U, Parada LF. Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development. Cancer Res 2011, 71:4686-4695.
-
(2011)
Cancer Res
, vol.71
, pp. 4686-4695
-
-
Le, L.Q.1
Liu, C.2
Shipman, T.3
Chen, Z.4
Suter, U.5
Parada, L.F.6
-
4
-
-
80054829001
-
Mortality in neurofibromatosis 1: In North West England: An assessment of actuarial survival in a region of the UK since 1989
-
Evans DG, O'Hara C, Wilding A, Ingham SL, Howard E, Dawson J, Moran A, Scott-Kitching V, Holt F, Huson SM. Mortality in neurofibromatosis 1: In North West England: An assessment of actuarial survival in a region of the UK since 1989. Eur J Hum Genet 2011, 19:1187-1191.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1187-1191
-
-
Evans, D.G.1
O'Hara, C.2
Wilding, A.3
Ingham, S.L.4
Howard, E.5
Dawson, J.6
Moran, A.7
Scott-Kitching, V.8
Holt, F.9
Huson, S.M.10
-
5
-
-
0027379865
-
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes
-
Easton DF, Ponder MA, Huson SM, Ponder BA. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet 1993, 53:305-313.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 305-313
-
-
Easton, D.F.1
Ponder, M.A.2
Huson, S.M.3
Ponder, B.A.4
-
6
-
-
67650709061
-
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
-
members of the NF France Network
-
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P, Adamski H, Baumann-Morel C, Bastuji-Garin S, Bellanne C, Bieth E, Bousquet P, Brandt C, Balguerie X, Boudali L, Berbis P, Castelnau P, Chaix Y, Chevrant-Breton J, Collet E, Cuny JF, Chastagner P, Chandeclerc ML, Cheuret E, , et al. members of the NF France Network Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet 2009, 18:2768-2778. members of the NF France Network.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2768-2778
-
-
Sabbagh, A.1
Pasmant, E.2
Laurendeau, I.3
Parfait, B.4
Barbarot, S.5
Guillot, B.6
Combemale, P.7
Ferkal, S.8
Vidaud, M.9
Aubourg, P.10
Vidaud, D.11
Wolkenstein, P.12
Adamski, H.13
Baumann-Morel, C.14
Bastuji-Garin, S.15
Bellanne, C.16
Bieth, E.17
Bousquet, P.18
Brandt, C.19
Balguerie, X.20
Boudali, L.21
Berbis, P.22
Castelnau, P.23
Chaix, Y.24
Chevrant-Breton, J.25
Collet, E.26
Cuny, J.F.27
Chastagner, P.28
Chandeclerc, M.L.29
Cheuret, E.30
more..
-
7
-
-
81855183779
-
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1
-
NF France Network
-
Pasmant E, Sabbagh A, Masliah-Planchon J, Ortonne N, Laurendeau I, Melin L, Ferkal S, Hernandez L, Leroy K, Valeyrie-Allanore L, Parfait B, Vidaud D, Bièche I, Lantieri L, Wolkenstein P, Vidaud M, Adamski H, Baumann-Morel C, Bastuji-Garin S, Bellanne C, Bieth E, Bousquet P, Brandt C, Balguerie X, Boudali L, Berbis P, Castelnau P, Chaix Y, Chevrant-Breton J, Collet E, , et al. NF France Network Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1. J Natl Cancer Inst 2011, 103:1713-1722. NF France Network.
-
(2011)
J Natl Cancer Inst
, vol.103
, pp. 1713-1722
-
-
Pasmant, E.1
Sabbagh, A.2
Masliah-Planchon, J.3
Ortonne, N.4
Laurendeau, I.5
Melin, L.6
Ferkal, S.7
Hernandez, L.8
Leroy, K.9
Valeyrie-Allanore, L.10
Parfait, B.11
Vidaud, D.12
Bièche, I.13
Lantieri, L.14
Wolkenstein, P.15
Vidaud, M.16
Adamski, H.17
Baumann-Morel, C.18
Bastuji-Garin, S.19
Bellanne, C.20
Bieth, E.21
Bousquet, P.22
Brandt, C.23
Balguerie, X.24
Boudali, L.25
Berbis, P.26
Castelnau, P.27
Chaix, Y.28
Chevrant-Breton, J.29
Collet, E.30
more..
-
8
-
-
79955468280
-
Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene
-
Kotake Y, Nakagawa T, Kitagawa K, Suzuki S, Liu N, Kitagawa M, Xiong Y. Long non-coding RNA ANRIL is required for the PRC2 recruitment to and silencing of p15(INK4B) tumor suppressor gene. Oncogene 2011, 30:1956-1962.
-
(2011)
Oncogene
, vol.30
, pp. 1956-1962
-
-
Kotake, Y.1
Nakagawa, T.2
Kitagawa, K.3
Suzuki, S.4
Liu, N.5
Kitagawa, M.6
Xiong, Y.7
-
9
-
-
77949775636
-
Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice
-
Visel A, Zhu Y, May D, Afzal V, Gong E, Attanasio C, Blow MJ, Cohen JC, Rubin EM, Pennacchio LA. Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice. Nature 2010, 464:409-412.
-
(2010)
Nature
, vol.464
, pp. 409-412
-
-
Visel, A.1
Zhu, Y.2
May, D.3
Afzal, V.4
Gong, E.5
Attanasio, C.6
Blow, M.J.7
Cohen, J.C.8
Rubin, E.M.9
Pennacchio, L.A.10
-
10
-
-
77953096072
-
Molecular interplay of the non-coding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a
-
Yap KL, Li S, Muñoz-Cabello AM, Raguz S, Zeng L, Mujtaba S, Gil J, Walsh MJ, Zhou MM. Molecular interplay of the non-coding RNA ANRIL and methylated histone H3 lysine 27 by polycomb CBX7 in transcriptional silencing of INK4a. Mol Cell 2010, 38:662-674.
-
(2010)
Mol Cell
, vol.38
, pp. 662-674
-
-
Yap, K.L.1
Li, S.2
Muñoz-Cabello, A.M.3
Raguz, S.4
Zeng, L.5
Mujtaba, S.6
Gil, J.7
Walsh, M.J.8
Zhou, M.M.9
-
11
-
-
33747587608
-
Regulation of the INK4b-ARF-INK4a tumour suppressor locus: all for one or one for all
-
Gil J, Peters G. Regulation of the INK4b-ARF-INK4a tumour suppressor locus: all for one or one for all. Nat Rev Mol Cell Biol 2006, 7:667-677.
-
(2006)
Nat Rev Mol Cell Biol
, vol.7
, pp. 667-677
-
-
Gil, J.1
Peters, G.2
-
12
-
-
80053645747
-
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors
-
Beert E, Brems H, Daniëls B, De Wever I, Van Calenbergh F, Schoenaers J, Debiec-Rychter M, Gevaert O, De Raedt T, Van Den Bruel A, de Ravel T, Cichowski K, Kluwe L, Mautner V, Sciot R, Legius E. Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chrom Cancer 2011, 50:1021-1032.
-
(2011)
Genes Chrom Cancer
, vol.50
, pp. 1021-1032
-
-
Beert, E.1
Brems, H.2
Daniëls, B.3
De Wever, I.4
Van Calenbergh, F.5
Schoenaers, J.6
Debiec-Rychter, M.7
Gevaert, O.8
De Raedt, T.9
Van Den Bruel, A.10
de Ravel, T.11
Cichowski, K.12
Kluwe, L.13
Mautner, V.14
Sciot, R.15
Legius, E.16
-
13
-
-
3843053704
-
P15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors
-
Perrone F, Tabano S, Colombo F, Dagrada G, Birindelli S, Gronchi A, Colecchia M, Pierotti MA, Pilotti S. p15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. Clin Cancer Res 2003, 9:4132-4138.
-
(2003)
Clin Cancer Res
, vol.9
, pp. 4132-4138
-
-
Perrone, F.1
Tabano, S.2
Colombo, F.3
Dagrada, G.4
Birindelli, S.5
Gronchi, A.6
Colecchia, M.7
Pierotti, M.A.8
Pilotti, S.9
-
14
-
-
80052820800
-
Plexiform neurofibromas in children with neurofibromatosis type 1: frequency and associated clinical deficits
-
Nguyen R, Kluwe L, Fuensterer C, Kentsch M, Friedrich RE, Mautner VF. Plexiform neurofibromas in children with neurofibromatosis type 1: frequency and associated clinical deficits. J Pediatr 2011, 159:652-655.
-
(2011)
J Pediatr
, vol.159
, pp. 652-655
-
-
Nguyen, R.1
Kluwe, L.2
Fuensterer, C.3
Kentsch, M.4
Friedrich, R.E.5
Mautner, V.F.6
-
15
-
-
84857995192
-
Internal tumor burden in neurofibromatosis type I patients with large NF1 deletions
-
Kluwe L, Nguyen R, Vogt J, Bengesser K, Mussotter T, Friedrich RE, Jett K, Kehrer-Sawatzki H, Mautner VF. Internal tumor burden in neurofibromatosis type I patients with large NF1 deletions. Genes Chrom Cancer 2012, 51:447-451.
-
(2012)
Genes Chrom Cancer
, vol.51
, pp. 447-451
-
-
Kluwe, L.1
Nguyen, R.2
Vogt, J.3
Bengesser, K.4
Mussotter, T.5
Friedrich, R.E.6
Jett, K.7
Kehrer-Sawatzki, H.8
Mautner, V.F.9
-
16
-
-
77956108381
-
Clinical characterization of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
-
Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H. Clinical characterization of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet 2010, 47:623-630.
-
(2010)
J Med Genet
, vol.47
, pp. 623-630
-
-
Mautner, V.F.1
Kluwe, L.2
Friedrich, R.E.3
Roehl, A.C.4
Bammert, S.5
Högel, J.6
Spöri, H.7
Cooper, D.N.8
Kehrer-Sawatzki, H.9
-
17
-
-
4143082585
-
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
-
Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 2004, 75:410-423.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 410-423
-
-
Kehrer-Sawatzki, H.1
Kluwe, L.2
Sandig, C.3
Kohn, M.4
Wimmer, K.5
Krammer, U.6
Peyrl, A.7
Jenne, D.E.8
Hansmann, I.9
Mautner, V.F.10
-
18
-
-
40449142781
-
Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region
-
Kehrer-Sawatzki H, Schmid E, Fünsterer C, Kluwe L, Mautner VF. Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region. Am J Med Genet 2008, 146A:691-699.
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 691-699
-
-
Kehrer-Sawatzki, H.1
Schmid, E.2
Fünsterer, C.3
Kluwe, L.4
Mautner, V.F.5
-
19
-
-
21444459445
-
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2
-
Kehrer-Sawatzki H, Kluwe L, Fünsterer C, Mautner VF. Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet 2005, 116:466-475.
-
(2005)
Hum Genet
, vol.116
, pp. 466-475
-
-
Kehrer-Sawatzki, H.1
Kluwe, L.2
Fünsterer, C.3
Mautner, V.F.4
-
20
-
-
42649085379
-
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions
-
Steinmann K, Kluwe L, Cooper DN, Brems H, De Raedt T, Legius E, Mautner VF, Kehrer-Sawatzki H. Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions. Eur J Hum Genet 2008, 16:572-580.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 572-580
-
-
Steinmann, K.1
Kluwe, L.2
Cooper, D.N.3
Brems, H.4
De Raedt, T.5
Legius, E.6
Mautner, V.F.7
Kehrer-Sawatzki, H.8
-
21
-
-
79551527960
-
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions
-
Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Hum Mutat 2010, 31:1163-1173.
-
(2010)
Hum Mutat
, vol.31
, pp. 1163-1173
-
-
Roehl, A.C.1
Vogt, J.2
Mussotter, T.3
Zickler, A.N.4
Spöti, H.5
Högel, J.6
Chuzhanova, N.A.7
Wimmer, K.8
Kluwe, L.9
Mautner, V.F.10
Cooper, D.N.11
Kehrer-Sawatzki, H.12
-
22
-
-
33750030758
-
The regulation of INK4/ARF in cancer and aging
-
Kim WY, Sharpless NE. The regulation of INK4/ARF in cancer and aging. Cell 2006, 127:265-275.
-
(2006)
Cell
, vol.127
, pp. 265-275
-
-
Kim, W.Y.1
Sharpless, N.E.2
-
23
-
-
68149171468
-
Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus
-
Maertens GN, El Messaoudi-Aubert S, Racek T, Stock JK, Nicholls J, Rodriguez-Niedenführ M, Gil J, Peters G. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. PLoS One 2009, 4:e6380.
-
(2009)
PLoS One
, vol.4
-
-
Maertens, G.N.1
El Messaoudi-Aubert, S.2
Racek, T.3
Stock, J.K.4
Nicholls, J.5
Rodriguez-Niedenführ, M.6
Gil, J.7
Peters, G.8
-
24
-
-
78449243068
-
Epigenetic regulation of the INK4b-ARF-INK4a locus: in sickness and in health
-
Popov N, Gil J. Epigenetic regulation of the INK4b-ARF-INK4a locus: in sickness and in health. Epigenetics 2010, 5:685-690.
-
(2010)
Epigenetics
, vol.5
, pp. 685-690
-
-
Popov, N.1
Gil, J.2
-
25
-
-
38049155825
-
Epigenetic silencing of tumour suppressor gene p15 by its antisense RNA
-
Yu W, Gius D, Onyango P, Muldoon-Jacobs K, Karp J, Feinberg AP, Cui H. Epigenetic silencing of tumour suppressor gene p15 by its antisense RNA. Nature 2008, 451:202-206.
-
(2008)
Nature
, vol.451
, pp. 202-206
-
-
Yu, W.1
Gius, D.2
Onyango, P.3
Muldoon-Jacobs, K.4
Karp, J.5
Feinberg, A.P.6
Cui, H.7
-
26
-
-
80051679799
-
Long noncoding RNA, polycomb, and the ghosts haunting INK4b-ARF-INK4a expression
-
Aguilo F, Zhou MM, Walsh MJ. Long noncoding RNA, polycomb, and the ghosts haunting INK4b-ARF-INK4a expression. Cancer Res 2011, 71:5365-5369.
-
(2011)
Cancer Res
, vol.71
, pp. 5365-5369
-
-
Aguilo, F.1
Zhou, M.M.2
Walsh, M.J.3
-
27
-
-
0037730135
-
Elevated risk for MPNST in NF1 microdeletion patients
-
De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. Elevated risk for MPNST in NF1 microdeletion patients. Am J Hum Genet 2003, 72:1288-1292.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1288-1292
-
-
De Raedt, T.1
Brems, H.2
Wolkenstein, P.3
Vidaud, D.4
Pilotti, S.5
Perrone, F.6
Mautner, V.7
Frahm, S.8
Sciot, R.9
Legius, E.10
-
28
-
-
21644485013
-
Intelligence in individuals with a neurofibromatosis type 1 microdeletion
-
Descheemaeker MJ, Roelandts K, De Raedt T, Brems H, Fryns JP, Legius E. Intelligence in individuals with a neurofibromatosis type 1 microdeletion. Am J Med Genet A 2004, 131:325-326.
-
(2004)
Am J Med Genet A
, vol.131
, pp. 325-326
-
-
Descheemaeker, M.J.1
Roelandts, K.2
De Raedt, T.3
Brems, H.4
Fryns, J.P.5
Legius, E.6
-
29
-
-
33746934199
-
Connective tissue dysplasia in five new patients with NF1 microdeletions: Further expansion of phenotype and review of the literature
-
Mensink KA, Ketterling RP, Flynn HC, Knudson RA, Lindor NM, Heese BA, Spinner RJ, Babovic-Vuksanovic D. Connective tissue dysplasia in five new patients with NF1 microdeletions: Further expansion of phenotype and review of the literature. J Med Genet 2006, 43:e8.
-
(2006)
J Med Genet
, vol.43
-
-
Mensink, K.A.1
Ketterling, R.P.2
Flynn, H.C.3
Knudson, R.A.4
Lindor, N.M.5
Heese, B.A.6
Spinner, R.J.7
Babovic-Vuksanovic, D.8
-
30
-
-
77952679995
-
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
-
members of the NF France Network
-
Pasmant E, Sabbagh A, Spurlock G, Laurendeau I, Grillo E, Hamel MJ, Martin L, Barbarot S, Leheup B, Rodriguez D, Lacombe D, Dollfus H, Pasquier L, Isidor B, Ferkal S, Soulier J, Sanson M, Dieux-Coeslier A, Bièche I, Parfait B, Vidaud M, Wolkenstein P, Upadhyaya M, Vidaud D, members of the NF France Network NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat 2010, 31:1506-1518. members of the NF France Network.
-
(2010)
Hum Mutat
, vol.31
, pp. 1506-1518
-
-
Pasmant, E.1
Sabbagh, A.2
Spurlock, G.3
Laurendeau, I.4
Grillo, E.5
Hamel, M.J.6
Martin, L.7
Barbarot, S.8
Leheup, B.9
Rodriguez, D.10
Lacombe, D.11
Dollfus, H.12
Pasquier, L.13
Isidor, B.14
Ferkal, S.15
Soulier, J.16
Sanson, M.17
Dieux-Coeslier, A.18
Bièche, I.19
Parfait, B.20
Vidaud, M.21
Wolkenstein, P.22
Upadhyaya, M.23
Vidaud, D.24
more..
-
31
-
-
0034057657
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
-
Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000, 9:35-46.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 35-46
-
-
Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
Pletcher, B.A.4
Stephens, K.5
-
32
-
-
0035875064
-
Recombination hotspot in NF1 microdeletion patients
-
López-Correa C, Dorschner M, Brems H, Lázaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet 2001, 10:1387-1392.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1387-1392
-
-
López-Correa, C.1
Dorschner, M.2
Brems, H.3
Lázaro, C.4
Clementi, M.5
Upadhyaya, M.6
Dooijes, D.7
Moog, U.8
Kehrer-Sawatzki, H.9
Rutkowski, J.L.10
Fryns, J.P.11
Marynen, P.12
Stephens, K.13
Legius, E.14
-
33
-
-
0034892401
-
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions
-
Jenne DE, Tinschert S, Reimann H, Lasinger W, Thiel G, Hameister H, Kehrer-Sawatzki H. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Am J Hum Genet 2001, 69:516-527.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 516-527
-
-
Jenne, D.E.1
Tinschert, S.2
Reimann, H.3
Lasinger, W.4
Thiel, G.5
Hameister, H.6
Kehrer-Sawatzki, H.7
-
34
-
-
84870847378
-
Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia
-
in press
-
Beekman R, Valkhof MG, Sanders MA, van Strien PM, Haanstra JR, Broeders L, Geertsma-Kleinekoort WM, Veerman AJ, Valk PJ, Verhaak RG, Löwenberg B, Touw IP. Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. Blood in press.
-
Blood
-
-
Beekman, R.1
Valkhof, M.G.2
Sanders, M.A.3
van Strien, P.M.4
Haanstra, J.R.5
Broeders, L.6
Geertsma-Kleinekoort, W.M.7
Veerman, A.J.8
Valk, P.J.9
Verhaak, R.G.10
Löwenberg, B.11
Touw, I.P.12
-
35
-
-
84870789458
-
Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms
-
in press
-
Brecqueville M, Rey J, Bertucci F, Coppin E, Finetti P, Carbuccia N, Cervera N, Gelsi-Boyer V, Arnoulet C, Gisserot O, Verrot D, Slama B, Vey N, Mozziconacci MJ, Birnbaum D, Murati A. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chrom Cancer in press.
-
Genes Chrom Cancer
-
-
Brecqueville, M.1
Rey, J.2
Bertucci, F.3
Coppin, E.4
Finetti, P.5
Carbuccia, N.6
Cervera, N.7
Gelsi-Boyer, V.8
Arnoulet, C.9
Gisserot, O.10
Verrot, D.11
Slama, B.12
Vey, N.13
Mozziconacci, M.J.14
Birnbaum, D.15
Murati, A.16
-
36
-
-
84856747744
-
Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia
-
Ntziachristos P, Tsirigos A, Van Vlierberghe P, Nedjic J, Trimarchi T, Flaherty MS, Ferres-Marco D, da Ros V, Tang Z, Siegle J, Asp P, Hadler M, Rigo I, De Keersmaecker K, Patel J, Huynh T, Utro F, Poglio S, Samon JB, Paietta E, Racevskis J, Rowe JM, Rabadan R, Levine RL, Brown S, Pflumio F, Dominguez M, Ferrando A, Aifantis I. Genetic inactivation of the polycomb repressive complex 2 in T cell acute lymphoblastic leukemia. Nat Med 2012, 18:298-301.
-
(2012)
Nat Med
, vol.18
, pp. 298-301
-
-
Ntziachristos, P.1
Tsirigos, A.2
Van Vlierberghe, P.3
Nedjic, J.4
Trimarchi, T.5
Flaherty, M.S.6
Ferres-Marco, D.7
da Ros, V.8
Tang, Z.9
Siegle, J.10
Asp, P.11
Hadler, M.12
Rigo, I.13
De Keersmaecker, K.14
Patel, J.15
Huynh, T.16
Utro, F.17
Poglio, S.18
Samon, J.B.19
Paietta, E.20
Racevskis, J.21
Rowe, J.M.22
Rabadan, R.23
Levine, R.L.24
Brown, S.25
Pflumio, F.26
Dominguez, M.27
Ferrando, A.28
Aifantis, I.29
more..
-
37
-
-
84857051756
-
Frequent deletions of JARID2 in leukemic transformation of chronic myeloid malignancies
-
Puda A, Milosevic JD, Berg T, Klampfl T, Harutyunyan AS, Gisslinger B, Rumi E, Pietra D, Malcovati L, Elena C, Doubek M, Steurer M, Tosic N, Pavlovic S, Guglielmelli P, Pieri L, Vannucchi AM, Gisslinger H, Cazzola M, Kralovics R. Frequent deletions of JARID2 in leukemic transformation of chronic myeloid malignancies. Am J Hematol 2012, 87:245-250.
-
(2012)
Am J Hematol
, vol.87
, pp. 245-250
-
-
Puda, A.1
Milosevic, J.D.2
Berg, T.3
Klampfl, T.4
Harutyunyan, A.S.5
Gisslinger, B.6
Rumi, E.7
Pietra, D.8
Malcovati, L.9
Elena, C.10
Doubek, M.11
Steurer, M.12
Tosic, N.13
Pavlovic, S.14
Guglielmelli, P.15
Pieri, L.16
Vannucchi, A.M.17
Gisslinger, H.18
Cazzola, M.19
Kralovics, R.20
more..
-
38
-
-
84856596417
-
Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms
-
Score J, Hidalgo-Curtis C, Jones AV, Winkelmann N, Skinner A, Ward D, Zoi K, Ernst T, Stegelmann F, Döhner K, Chase A, Cross NC. Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms. Blood 2012, 119:1208-1213.
-
(2012)
Blood
, vol.119
, pp. 1208-1213
-
-
Score, J.1
Hidalgo-Curtis, C.2
Jones, A.V.3
Winkelmann, N.4
Skinner, A.5
Ward, D.6
Zoi, K.7
Ernst, T.8
Stegelmann, F.9
Döhner, K.10
Chase, A.11
Cross, N.C.12
-
39
-
-
84862907593
-
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
-
Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen X, Wang J, Rusch M, Lu C, Chen SC, Wei L, Collins-Underwood JR, Ma J, Roberts KG, Pounds SB, Ulyanov A, Becksfort J, Gupta P, Huether R, Kriwacki RW, Parker M, McGoldrick DJ, Zhao D, Alford D, Espy S, Bobba KC, Song G, Pei D, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 2012, 481:157-163.
-
(2012)
Nature
, vol.481
, pp. 157-163
-
-
Zhang, J.1
Ding, L.2
Holmfeldt, L.3
Wu, G.4
Heatley, S.L.5
Payne-Turner, D.6
Easton, J.7
Chen, X.8
Wang, J.9
Rusch, M.10
Lu, C.11
Chen, S.C.12
Wei, L.13
Collins-Underwood, J.R.14
Ma, J.15
Roberts, K.G.16
Pounds, S.B.17
Ulyanov, A.18
Becksfort, J.19
Gupta, P.20
Huether, R.21
Kriwacki, R.W.22
Parker, M.23
McGoldrick, D.J.24
Zhao, D.25
Alford, D.26
Espy, S.27
Bobba, K.C.28
Song, G.29
Pei, D.30
more..
-
40
-
-
33748480671
-
Somatic loss of wild type NF1 allele in neurofibromas: comparison of NF1 microdeletion and non-microdeletion patients
-
De Raedt T, Maertens O, Chmara M, Brems H, Heyns I, Sciot R, Majounie E, Upadhyaya M, De Schepper S, Speleman F, Messiaen L, Vermeesch JR, Legius E. Somatic loss of wild type NF1 allele in neurofibromas: comparison of NF1 microdeletion and non-microdeletion patients. Genes Chrom Cancer 2006, 45:893-904.
-
(2006)
Genes Chrom Cancer
, vol.45
, pp. 893-904
-
-
De Raedt, T.1
Maertens, O.2
Chmara, M.3
Brems, H.4
Heyns, I.5
Sciot, R.6
Majounie, E.7
Upadhyaya, M.8
De Schepper, S.9
Speleman, F.10
Messiaen, L.11
Vermeesch, J.R.12
Legius, E.13
|