-
1
-
-
33645218011
-
A very large, rapidly developing, congenital giant cell fibroblastoma in a 5-month old infant
-
Aliağaoğlu C, Bakan V, Atasoy M, Sahin O, Toker S, Albayrak M. 2006. A very large, rapidly developing, congenital giant cell fibroblastoma in a 5-month old infant. J Dermatol 33:182-186.
-
(2006)
J Dermatol
, vol.33
, pp. 182-186
-
-
Aliağaoğlu, C.1
Bakan, V.2
Atasoy, M.3
Sahin, O.4
Toker, S.5
Albayrak, M.6
-
2
-
-
84876474319
-
Genetic syndromes caused by mutations in epigenetic genes
-
Berdasco M, Esteller M. 2013. Genetic syndromes caused by mutations in epigenetic genes. Hum Genet. 132:359-383.
-
(2013)
Hum Genet
, vol.132
, pp. 359-383
-
-
Berdasco, M.1
Esteller, M.2
-
4
-
-
84882849258
-
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
-
Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D. 2013. Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 163:742-746.
-
(2013)
J Pediatr
, vol.163
, pp. 742-746
-
-
Courcet, J.B.1
Faivre, L.2
Michot, C.3
Burguet, A.4
Perez-Martin, S.5
Alix, E.6
Amiel, J.7
Baumann, C.8
Cordier, M.P.9
Cormier-Daire, V.10
Delrue, M.A.11
Gilbert-Dussardier, B.12
Goldenberg, A.13
Jacquemont, M.L.14
Jaquette, A.15
Kayirangwa, H.16
Lacombe, D.17
Le Merrer, M.18
Toutain, A.19
Odent, S.20
Moncla, A.21
Pelet, A.22
Philip, N.23
Pinson, L.24
Poisson, S.25
Kim-Han le, Q.S.26
Roume, J.27
Sanchez, E.28
Willems, M.29
Till, M.30
Vincent-Delorme, C.31
Mousson, C.32
Vinault, S.33
Binquet, C.34
Huet, F.35
Sarda, P.36
Salomon, R.37
Lyonnet, S.38
Sanlaville, D.39
Geneviève, D.40
more..
-
5
-
-
80051754453
-
Kabuki syndrome: A new case associated with Becker nevus
-
Cuesta L, Betlloch I, Toledo F, Latorre N, Monteagudo AF. 2011. Kabuki syndrome: A new case associated with Becker nevus. Dermatol Online J 17:1.
-
(2011)
Dermatol Online J
, vol.17
, pp. 1
-
-
Cuesta, L.1
Betlloch, I.2
Toledo, F.3
Latorre, N.4
Monteagudo, A.F.5
-
6
-
-
0030025483
-
Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans
-
Dal Cin P, Sciot R, de Wever I, Brock P, Casteels-Van Daele M, Van Damme B, Van Den Berghe H. 1996. Cytogenetic and immunohistochemical evidence that giant cell fibroblastoma is related to dermatofibrosarcoma protuberans. Genes Chromosomes Cancer 15:73-75.
-
(1996)
Genes Chromosomes Cancer
, vol.15
, pp. 73-75
-
-
Dal Cin, P.1
Sciot, R.2
de Wever, I.3
Brock, P.4
Casteels-Van Daele, M.5
Van Damme, B.6
Van Den Berghe, H.7
-
7
-
-
84902997957
-
CD34+ stromal cells/fibroblasts/fibrocytes/telocytes as a tissue reserve and a principal source of mesenchymal cells. Location, morphology, function, and role in pathology
-
Díaz-Flores L, Gutiérrez R, García MP, Sáez FJ, Díaz-Flores L Jr, Valladares F, Madrid JF. 2014. CD34+ stromal cells/fibroblasts/fibrocytes/telocytes as a tissue reserve and a principal source of mesenchymal cells. Location, morphology, function, and role in pathology. Histol Histopathol 29:831-870.
-
(2014)
Histol Histopathol
, vol.29
, pp. 831-870
-
-
Díaz-Flores, L.1
Gutiérrez, R.2
García, M.P.3
Sáez, F.J.4
Díaz-Flores, L.5
Valladares, F.6
Madrid, J.F.7
-
8
-
-
0035874017
-
Congenital heart defects in Kabuki syndrome
-
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 2001. Congenital heart defects in Kabuki syndrome. Am J Med Genet 100:269-274.
-
(2001)
Am J Med Genet
, vol.100
, pp. 269-274
-
-
Digilio, M.C.1
Marino, B.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
9
-
-
84878857067
-
Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma
-
Dubuc AM, Remke M, Korshunov A, Northcott PA, Zhan SH, Mendez-Lago M, Kool M, Jones DT, Unterberger A, Morrissy AS, Shih D, Peacock J, Ramaswamy V, Rolider A, Wang X, Witt H, Hielscher T, Hawkins C, Vibhakar R, Croul S, Rutka JT, Weiss WA, Jones SJ, Eberhart CG, Marra MA, Pfister SM, Taylor MD. 2013. Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma. Acta Neuropathol 125:373-384.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 373-384
-
-
Dubuc, A.M.1
Remke, M.2
Korshunov, A.3
Northcott, P.A.4
Zhan, S.H.5
Mendez-Lago, M.6
Kool, M.7
Jones, D.T.8
Unterberger, A.9
Morrissy, A.S.10
Shih, D.11
Peacock, J.12
Ramaswamy, V.13
Rolider, A.14
Wang, X.15
Witt, H.16
Hielscher, T.17
Hawkins, C.18
Vibhakar, R.19
Croul, S.20
Rutka, J.T.21
Weiss, W.A.22
Jones, S.J.23
Eberhart, C.G.24
Marra, M.A.25
Pfister, S.M.26
Taylor, M.D.27
more..
-
10
-
-
0023154775
-
Giant cell fibroblastoma. A distinctive, recurrent tumor of childhood
-
Dymock RB, Allen PW, Stirling JW, Gilbert EF, Thornbery JM. 1987. Giant cell fibroblastoma. A distinctive, recurrent tumor of childhood. Am J Surg Pathol 11:263-271.
-
(1987)
Am J Surg Pathol
, vol.11
, pp. 263-271
-
-
Dymock, R.B.1
Allen, P.W.2
Stirling, J.W.3
Gilbert, E.F.4
Thornbery, J.M.5
-
11
-
-
84930576745
-
The cancer COMPASS: Navigating the functions of MLL complexes in cancer
-
Ford DJ, Dingwall AK. 2015. The cancer COMPASS: Navigating the functions of MLL complexes in cancer. Cancer Genet 208:178-191.
-
(2015)
Cancer Genet
, vol.208
, pp. 178-191
-
-
Ford, D.J.1
Dingwall, A.K.2
-
12
-
-
0004299806
-
World Health Organization classification of tumors
-
third edition, first revision. Geneva: World Health Organization
-
Fritz A, Percy C, Jack A, Shanmugaratnam K, Sobin L, Parkin DM, Whelan S, editors. 2013. World Health Organization classification of tumors. International classification of diseases for oncology, third edition, first revision. Geneva: World Health Organization. p 72.
-
(2013)
International classification of diseases for oncology
, pp. 72
-
-
Fritz, A.1
Percy, C.2
Jack, A.3
Shanmugaratnam, K.4
Sobin, L.5
Parkin, D.M.6
Whelan, S.7
-
13
-
-
0029803939
-
Giant cell fibroblastoma: A report of three cases with histologic and immunohistochemical evidence of a relationship to dermatofibrosarcoma protuberans
-
Goldblum JR. 1996. Giant cell fibroblastoma: A report of three cases with histologic and immunohistochemical evidence of a relationship to dermatofibrosarcoma protuberans. Arch Pathol Lab Med 120:1052-1055.
-
(1996)
Arch Pathol Lab Med
, vol.120
, pp. 1052-1055
-
-
Goldblum, J.R.1
-
14
-
-
84890220219
-
KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation
-
Guo C, Chen LH, Huang Y, Chang CC, Wang P, Pirozzi CJ, Qin X, Bao X, Greer PK, McLendon RE, Yan H, Keir ST, Bigner DD, He Y. 2013. KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation. Oncotarget 4:2144-2153.
-
(2013)
Oncotarget
, vol.4
, pp. 2144-2153
-
-
Guo, C.1
Chen, L.H.2
Huang, Y.3
Chang, C.C.4
Wang, P.5
Pirozzi, C.J.6
Qin, X.7
Bao, X.8
Greer, P.K.9
McLendon, R.E.10
Yan, H.11
Keir, S.T.12
Bigner, D.D.13
He, Y.14
-
15
-
-
84874935514
-
Multiple pilomatricomas in Kabuki syndrome
-
Hamahata A, Kamei W, Ishikawa M, Konoeda H, Yamaki T, Sakurai H. 2013. Multiple pilomatricomas in Kabuki syndrome. Pediatr Dermatol 30:253-255.
-
(2013)
Pediatr Dermatol
, vol.30
, pp. 253-255
-
-
Hamahata, A.1
Kamei, W.2
Ishikawa, M.3
Konoeda, H.4
Yamaki, T.5
Sakurai, H.6
-
16
-
-
79959532375
-
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
-
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. 2011. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet Part A 155A:1511-1516.
-
(2011)
Am J Med Genet Part A
, vol.155A
, pp. 1511-1516
-
-
Hannibal, M.C.1
Buckingham, K.J.2
Ng, S.B.3
Ming, J.E.4
Beck, A.E.5
McMillin, M.J.6
Gildersleeve, H.I.7
Bigham, A.W.8
Tabor, H.K.9
Mefford, H.C.10
Cook, J.11
Yoshiura, K.12
Matsumoto, T.13
Matsumoto, N.14
Miyake, N.15
Tonoki, H.16
Naritomi, K.17
Kaname, T.18
Nagai, T.19
Ohashi, H.20
Kurosawa, K.21
Hou, J.W.22
Ohta, T.23
Liang, D.24
Sudo, A.25
Morris, C.A.26
Banka, S.27
Black, G.C.28
Clayton-Smith, J.29
Nickerson, D.A.30
Zackai, E.H.31
Shaikh, T.H.32
Donnai, D.33
Niikawa, N.34
Shendure, J.35
Bamshad, M.J.36
more..
-
17
-
-
19944420858
-
Immune abnormalities are a frequent manifestation of Kabuki syndrome
-
Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. 2005. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet Part A 135:278-281.
-
(2005)
Am J Med Genet Part A
, vol.135
, pp. 278-281
-
-
Hoffman, J.D.1
Ciprero, K.L.2
Sullivan, K.E.3
Kaplan, P.B.4
McDonald-McGinn, D.M.5
Zackai, E.H.6
Ming, J.E.7
-
18
-
-
0035880631
-
High Ki-67 proliferative index predicts disease specific survival in patients with high-risk soft tissue sarcomas
-
Hoos A, Stojadinovic A, Mastorides S, Urist MJ, Polsky D, Di Como CJ, Brennan MF, Cordon-Cardo C. 2001. High Ki-67 proliferative index predicts disease specific survival in patients with high-risk soft tissue sarcomas. Cancer 92:869-874.
-
(2001)
Cancer
, vol.92
, pp. 869-874
-
-
Hoos, A.1
Stojadinovic, A.2
Mastorides, S.3
Urist, M.J.4
Polsky, D.5
Di Como, C.J.6
Brennan, M.F.7
Cordon-Cardo, C.8
-
19
-
-
84907304074
-
The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes
-
Huether R, Dong L, Chen X, Wu G, Parker M, Wei L, Ma J, Edmonson MN, Hedlund EK, Rusch MC, Shurtleff SA, Mulder HL, Boggs K, Vadordaria B, Cheng J, Yergeau D, Song G, Becksfort J, Lemmon G, Weber C, Cai Z, Dang J, Walsh M, Gedman AL, Faber Z, Easton J, Gruber T, Kriwacki RW, Partridge JF, Ding L, Wilson RK, Mardis ER, Mullighan CG, Gilbertson RJ, Baker SJ, Zambetti G, Ellison DW, Zhang J, Downing JR. 2014. The landscape of somatic mutations in epigenetic regulators across 1, 000 paediatric cancer genomes. Nat Commun 5:3630.
-
(2014)
Nat Commun
, vol.5
, pp. 3630
-
-
Huether, R.1
Dong, L.2
Chen, X.3
Wu, G.4
Parker, M.5
Wei, L.6
Ma, J.7
Edmonson, M.N.8
Hedlund, E.K.9
Rusch, M.C.10
Shurtleff, S.A.11
Mulder, H.L.12
Boggs, K.13
Vadordaria, B.14
Cheng, J.15
Yergeau, D.16
Song, G.17
Becksfort, J.18
Lemmon, G.19
Weber, C.20
Cai, Z.21
Dang, J.22
Walsh, M.23
Gedman, A.L.24
Faber, Z.25
Easton, J.26
Gruber, T.27
Kriwacki, R.W.28
Partridge, J.F.29
Ding, L.30
Wilson, R.K.31
Mardis, E.R.32
Mullighan, C.G.33
Gilbertson, R.J.34
Baker, S.J.35
Zambetti, G.36
Ellison, D.W.37
Zhang, J.38
Downing, J.R.39
more..
-
20
-
-
0029865722
-
A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma
-
Ijichi O, Kawakami K, Matsuda Y, Ikarimoto N, Miyata K, Takamatsu H, Tokunaga M. 1996. A case of Kabuki make-up syndrome with EBV+Burkitt's lymphoma. Acta Paediatr Jpn 38:66-68.
-
(1996)
Acta Paediatr Jpn
, vol.38
, pp. 66-68
-
-
Ijichi, O.1
Kawakami, K.2
Matsuda, Y.3
Ikarimoto, N.4
Miyata, K.5
Takamatsu, H.6
Tokunaga, M.7
-
21
-
-
84878755701
-
Hypothalamic pituitary complications in Kabuki syndrome
-
Ito N, Ihara K, Tsutsumi Y, Miyake N, Matsumoto N, Hara T. 2013. Hypothalamic pituitary complications in Kabuki syndrome. Pituitary 16:133-138.
-
(2013)
Pituitary
, vol.16
, pp. 133-138
-
-
Ito, N.1
Ihara, K.2
Tsutsumi, Y.3
Miyake, N.4
Matsumoto, N.5
Hara, T.6
-
22
-
-
33847353687
-
Giant cell fibroblastoma: An update and addition of 86 new cases from the armed forces institute of pathology, in honor of Dr. Franz M Enzinger
-
Jha P, Moosavi C, Fanburg-Smith JC. 2007. Giant cell fibroblastoma: An update and addition of 86 new cases from the armed forces institute of pathology, in honor of Dr. Franz M Enzinger. Ann Diagn Pathol 11:81-88.
-
(2007)
Ann Diagn Pathol
, vol.11
, pp. 81-88
-
-
Jha, P.1
Moosavi, C.2
Fanburg-Smith, J.C.3
-
23
-
-
0033504485
-
Phenotypic spectrum and management issues in Kabuki syndrome
-
Kawame H, Hannibal MC, Hudgins L, Pagon RA. 1999. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 134:480-485.
-
(1999)
J Pediatr
, vol.134
, pp. 480-485
-
-
Kawame, H.1
Hannibal, M.C.2
Hudgins, L.3
Pagon, R.A.4
-
24
-
-
0019837311
-
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
-
Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. 1981. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570-573.
-
(1981)
J Pediatr
, vol.99
, pp. 570-573
-
-
Kuroki, Y.1
Suzuki, Y.2
Chyo, H.3
Hata, A.4
Matsui, I.5
-
25
-
-
84855833698
-
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
-
Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. 2012. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 90:119-124.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 119-124
-
-
Lederer, D.1
Grisart, B.2
Digilio, M.C.3
Benoit, V.4
Crespin, M.5
Ghariani, S.C.6
Maystadt, I.7
Dallapiccola, B.8
Verellen-Dumoulin, C.9
-
26
-
-
48949101071
-
Cancer incidence among children and adolescents in the United States, 2001-2003
-
Li J, Thompson TD, Miller JW, Pollack LA, Stewart SL. 2008. Cancer incidence among children and adolescents in the United States, 2001-2003. Pediatrics 121:e1470-e1477.
-
(2008)
Pediatrics
, vol.121
, pp. e1470-e1477
-
-
Li, J.1
Thompson, T.D.2
Miller, J.W.3
Pollack, L.A.4
Stewart, S.L.5
-
27
-
-
84920094708
-
The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing
-
Lindqvist CM, Nordlund J, Ekman D, Johansson A, Moghadam BT, Raine A, Övernäs E, Dahlberg J, Wahlberg P, Henriksson N, Abrahamsson J, Frost BM, Grandér D, Heyman M, Larsson R, Palle J, Söderhäll S, Forestier E, Lönnerholm G, Syvänen AC, Berglund EC. 2015. The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing. Hum Mutat 36:118-128.
-
(2015)
Hum Mutat
, vol.36
, pp. 118-128
-
-
Lindqvist, C.M.1
Nordlund, J.2
Ekman, D.3
Johansson, A.4
Moghadam, B.T.5
Raine, A.6
Övernäs, E.7
Dahlberg, J.8
Wahlberg, P.9
Henriksson, N.10
Abrahamsson, J.11
Frost, B.M.12
Grandér, D.13
Heyman, M.14
Larsson, R.15
Palle, J.16
Söderhäll, S.17
Forestier, E.18
Lönnerholm, G.19
Syvänen, A.C.20
Berglund, E.C.21
more..
-
28
-
-
84881670308
-
MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study
-
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. 2013. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study. Clin Genet 84:539-545.
-
(2013)
Clin Genet
, vol.84
, pp. 539-545
-
-
Makrythanasis, P.1
van Bon, B.W.2
Steehouwer, M.3
Rodríguez-Santiago, B.4
Simpson, M.5
Dias, P.6
Anderlid, B.M.7
Arts, P.8
Bhat, M.9
Augello, B.10
Biamino, E.11
Bongers, E.M.12
Del Campo, M.13
Cordeiro, I.14
Cueto-González, A.M.15
Cuscó, I.16
Deshpande, C.17
Frysira, E.18
Izatt, L.19
Flores, R.20
Galán, E.21
Gener, B.22
Gilissen, C.23
Granneman, S.M.24
Hoyer, J.25
Yntema, H.G.26
Kets, C.M.27
Koolen, D.A.28
Marcelis, C.29
Medeira, A.30
Micale, L.31
Mohammed, S.32
de Munnik, S.A.33
Nordgren, A.34
Psoni, S.35
Reardon, W.36
Revencu, N.37
Roscioli, T.38
Ruiterkamp-Versteeg, M.39
Santos, H.G.40
Schoumans, J.41
Schuurs-Hoeijmakers, J.H.42
Silengo, M.C.43
Toledo, L.44
Vendrell, T.45
van der Burgt, I.46
van Lier, B.47
Zweier, C.48
Reymond, A.49
Trembath, R.C.50
Perez-Jurado, L.51
Dupont, J.52
de Vries, B.B.53
Brunner, H.G.54
Veltman, J.A.55
Merla, G.56
Antonarakis, S.E.57
Hoischen, A.58
more..
-
29
-
-
0035863669
-
Craniofacial and dental characteristics of Kabuki syndrome
-
Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. 2001. Craniofacial and dental characteristics of Kabuki syndrome. Am J Med Genet 98:185-190.
-
(2001)
Am J Med Genet
, vol.98
, pp. 185-190
-
-
Matsune, K.1
Shimizu, T.2
Tohma, T.3
Asada, Y.4
Ohashi, H.5
Maeda, T.6
-
31
-
-
15944401335
-
High incidence of malformation syndromes in a series of 1,073 children with cancer
-
Merks JH, Caron HN, Hennekam RC. 2005. High incidence of malformation syndromes in a series of 1, 073 children with cancer. Am J Med Genet Part A 134A:132-143.
-
(2005)
Am J Med Genet Part A
, vol.134A
, pp. 132-143
-
-
Merks, J.H.1
Caron, H.N.2
Hennekam, R.C.3
-
32
-
-
84881667094
-
MLL2 and KDM6A mutations in patients with Kabuki syndrome
-
Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. 2013. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet Part A 161A:2234-2243.
-
(2013)
Am J Med Genet Part A
, vol.161A
, pp. 2234-2243
-
-
Miyake, N.1
Koshimizu, E.2
Okamoto, N.3
Mizuno, S.4
Ogata, T.5
Nagai, T.6
Kosho, T.7
Ohashi, H.8
Kato, M.9
Sasaki, G.10
Mabe, H.11
Watanabe, Y.12
Yoshino, M.13
Matsuishi, T.14
Takanashi, J.15
Shotelersuk, V.16
Tekin, M.17
Ochi, N.18
Kubota, M.19
Ito, N.20
Ihara, K.21
Hara, T.22
Tonoki, H.23
Ohta, T.24
Saito, K.25
Matsuo, M.26
Urano, M.27
Enokizono, T.28
Sato, A.29
Tanaka, H.30
Ogawa, A.31
Fujita, T.32
Hiraki, Y.33
Kitanaka, S.34
Matsubara, Y.35
Makita, T.36
Taguri, M.37
Nakashima, M.38
Tsurusaki, Y.39
Saitsu, H.40
Yoshiura, K.41
Matsumoto, N.42
Niikawa, N.43
more..
-
33
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. 2010. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790-793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
Lee, C.11
Turner, E.H.12
Smith, J.D.13
Rieder, M.J.14
Yoshiura, K.15
Matsumoto, N.16
Ohta, T.17
Niikawa, N.18
Nickerson, D.A.19
Bamshad, M.J.20
Shendure, J.21
more..
-
34
-
-
0036120028
-
Giant cell fibroblastoma in a child misdiagnosed as a dermatofibroma
-
Nguyen CM, Burch JM, Fitzpatrick JE, Peterson SL, Weston WL. 2002. Giant cell fibroblastoma in a child misdiagnosed as a dermatofibroma. Pediatr Dermatol 19:28-32.
-
(2002)
Pediatr Dermatol
, vol.19
, pp. 28-32
-
-
Nguyen, C.M.1
Burch, J.M.2
Fitzpatrick, J.E.3
Peterson, S.L.4
Weston, W.L.5
-
35
-
-
0019850335
-
Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
-
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569.
-
(1981)
J Pediatr
, vol.99
, pp. 565-569
-
-
Niikawa, N.1
Matsuura, N.2
Fukushima, Y.3
Ohsawa, T.4
Kajii, T.5
-
36
-
-
84943658052
-
The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development
-
Ortega-Molina A, Boss IW, Canela A, Pan H, Jiang Y, Zhao C, Jiang M, Hu D, Agirre X, Niesvizky I, Lee JE, Chen HT, Ennishi D, Scott DW, Mottok A, Hother C, Liu S, Cao XJ, Tam W, Shaknovich R, Garcia BA, Gascoyne RD, Ge K, Shilatifard A, Elemento O, Nussenzweig A, Melnick AM, Wendel HG. 2015. The histone lysine methyltransferase KMT2D sustains a gene expression program that represses B cell lymphoma development. Nat Med 21:1199-1208.
-
(2015)
Nat Med
, vol.21
, pp. 1199-1208
-
-
Ortega-Molina, A.1
Boss, I.W.2
Canela, A.3
Pan, H.4
Jiang, Y.5
Zhao, C.6
Jiang, M.7
Hu, D.8
Agirre, X.9
Niesvizky, I.10
Lee, J.E.11
Chen, H.T.12
Ennishi, D.13
Scott, D.W.14
Mottok, A.15
Hother, C.16
Liu, S.17
Cao, X.J.18
Tam, W.19
Shaknovich, R.20
Garcia, B.A.21
Gascoyne, R.D.22
Ge, K.23
Shilatifard, A.24
Elemento, O.25
Nussenzweig, A.26
Melnick, A.M.27
Wendel, H.G.28
more..
-
37
-
-
79551505871
-
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
-
Paulussen AD, Stegmann AP, Blok MJ, Tserpelis D, Posma-Velter C, Detisch Y, Smeets EE, Wagemans A, Schrander JJ, van den Boogaard MJ, van der Smagt J, van Haeringen A, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Mancini GM, Wessels MW, Hennekam RC, Vreeburg M, Geraedts J, de Ravel T, Fryns JP, Smeets HJ, Devriendt K, Schrander-Stumpel CT. 2011. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat 32:E2018-E2025.
-
(2011)
Hum Mutat
, vol.32
, pp. E2018-E2025
-
-
Paulussen, A.D.1
Stegmann, A.P.2
Blok, M.J.3
Tserpelis, D.4
Posma-Velter, C.5
Detisch, Y.6
Smeets, E.E.7
Wagemans, A.8
Schrander, J.J.9
van den Boogaard, M.J.10
van der Smagt, J.11
van Haeringen, A.12
Stolte-Dijkstra, I.13
Kerstjens-Frederikse, W.S.14
Mancini, G.M.15
Wessels, M.W.16
Hennekam, R.C.17
Vreeburg, M.18
Geraedts, J.19
de Ravel, T.20
Fryns, J.P.21
Smeets, H.J.22
Devriendt, K.23
Schrander-Stumpel, C.T.24
more..
-
38
-
-
84940733519
-
Spinal ependymoma in a patient with Kabuki syndrome: A case report
-
Roma D, Palma P, Capolino R, Figà-Talamanca L, Diomedi-Camassei F, Lepri FR, Digilio MC, Marras CE, Messina R, Carai A, Randi F, Mastronuzzi A. 2015. Spinal ependymoma in a patient with Kabuki syndrome: A case report. BMC Med Genet 16:80.
-
(2015)
BMC Med Genet
, vol.16
, pp. 80
-
-
Roma, D.1
Palma, P.2
Capolino, R.3
Figà-Talamanca, L.4
Diomedi-Camassei, F.5
Lepri, F.R.6
Digilio, M.C.7
Marras, C.E.8
Messina, R.9
Carai, A.10
Randi, F.11
Mastronuzzi, A.12
-
39
-
-
0042819645
-
Patient with Kabuki syndrome and acute leukemia
-
Scherer S, Theile U, Beyer V, Ferrari R, Kreck C, Rister M. 2003. Patient with Kabuki syndrome and acute leukemia. Am J Med Genet Part A 122A:76-79.
-
(2003)
Am J Med Genet Part A
, vol.122A
, pp. 76-79
-
-
Scherer, S.1
Theile, U.2
Beyer, V.3
Ferrari, R.4
Kreck, C.5
Rister, M.6
-
40
-
-
33847084602
-
Genome regulation by polycomb and trithorax proteins
-
Schuettengruber B, Chourrout D, Vervoort M, Leblanc B, Cavalli G. 2007. Genome regulation by polycomb and trithorax proteins. Cell 128:735-745.
-
(2007)
Cell
, vol.128
, pp. 735-745
-
-
Schuettengruber, B.1
Chourrout, D.2
Vervoort, M.3
Leblanc, B.4
Cavalli, G.5
-
41
-
-
78751585126
-
Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays
-
Segura S, Salgado R, Toll A, Martín-Ezquerra G, Yébenes M, Sáez A, Solé F, Barranco C, Umbert P, Espinet B, Pujol RM. 2011. Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays. Hum Pathol 42:176-184.
-
(2011)
Hum Pathol
, vol.42
, pp. 176-184
-
-
Segura, S.1
Salgado, R.2
Toll, A.3
Martín-Ezquerra, G.4
Yébenes, M.5
Sáez, A.6
Solé, F.7
Barranco, C.8
Umbert, P.9
Espinet, B.10
Pujol, R.M.11
-
42
-
-
51449111084
-
Low-grade fibromyxoid sarcoma: Yet another malignancy associated with Kabuki syndrome
-
Shahdadpuri R, O'Meara A, O'Sullivan M, Reardon W. 2008. Low-grade fibromyxoid sarcoma: Yet another malignancy associated with Kabuki syndrome. Clin Dysmorphol 17:199-202.
-
(2008)
Clin Dysmorphol
, vol.17
, pp. 199-202
-
-
Shahdadpuri, R.1
O'Meara, A.2
O'Sullivan, M.3
Reardon, W.4
-
43
-
-
0024431940
-
Giant cell fibroblastoma. A juvenile form of dermatofibrosarcoma protuberans
-
Shmookler BM, Enzinger FM, Weiss SW. 1989. Giant cell fibroblastoma. A juvenile form of dermatofibrosarcoma protuberans. Cancer 64:2154-2161.
-
(1989)
Cancer
, vol.64
, pp. 2154-2161
-
-
Shmookler, B.M.1
Enzinger, F.M.2
Weiss, S.W.3
-
44
-
-
0031012850
-
Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma
-
Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP. 1997. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet 15:95-98.
-
(1997)
Nat Genet
, vol.15
, pp. 95-98
-
-
Simon, M.P.1
Pedeutour, F.2
Sirvent, N.3
Grosgeorge, J.4
Minoletti, F.5
Coindre, J.M.6
Terrier-Lacombe, M.J.7
Mandahl, N.8
Craver, R.D.9
Blin, N.10
Sozzi, G.11
Turc-Carel, C.12
O'Brien, K.P.13
Kedra, D.14
Fransson, I.15
Guilbaud, C.16
Dumanski, J.P.17
-
45
-
-
0037216482
-
Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: Clinicopathologic comparative analysis of 28 cases with molecular data-a study from the French Federation of Cancer Centers Sarcoma Group
-
Terrier-Lacombe MJ, Guillou L, Maire G, Terrier P, Vince DR, de Saint Aubain Somerhausen N, Collin F, Pedeutour F, Coindre JM. 2003. Dermatofibrosarcoma protuberans, giant cell fibroblastoma, and hybrid lesions in children: Clinicopathologic comparative analysis of 28 cases with molecular data-a study from the French Federation of Cancer Centers Sarcoma Group. Am J Surg Pathol 27:27-39.
-
(2003)
Am J Surg Pathol
, vol.27
, pp. 27-39
-
-
Terrier-Lacombe, M.J.1
Guillou, L.2
Maire, G.3
Terrier, P.4
Vince, D.R.5
de Saint Aubain Somerhausen, N.6
Collin, F.7
Pedeutour, F.8
Coindre, J.M.9
-
46
-
-
77952764681
-
Kabuki syndrome and cancer in two patients
-
Tumino M, Licciardello M, Sorge G, Cutrupi MC, Di Benedetto F, Amoroso L, Catania R, Pennisi M, D'Amico S, Di Cataldo A. 2010. Kabuki syndrome and cancer in two patients. Am J Med Genet Part A 152A:1536-1539.
-
(2010)
Am J Med Genet Part A
, vol.152A
, pp. 1536-1539
-
-
Tumino, M.1
Licciardello, M.2
Sorge, G.3
Cutrupi, M.C.4
Di Benedetto, F.5
Amoroso, L.6
Catania, R.7
Pennisi, M.8
D'Amico, S.9
Di Cataldo, A.10
-
47
-
-
0028012103
-
Cell proliferation in human soft tissue tumors correlates with platelet-derived growth factor B chain expression: An immunohistochemical and in situ hybridization study
-
Wang J, Coltrera MD, Gown AM. 1994. Cell proliferation in human soft tissue tumors correlates with platelet-derived growth factor B chain expression: An immunohistochemical and in situ hybridization study. Cancer Res 54:560-564.
-
(1994)
Cancer Res
, vol.54
, pp. 560-564
-
-
Wang, J.1
Coltrera, M.D.2
Gown, A.M.3
-
48
-
-
2442536886
-
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome
-
White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, Bankier A. 2004. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet Part A 127A:118-127.
-
(2004)
Am J Med Genet Part A
, vol.127A
, pp. 118-127
-
-
White, S.M.1
Thompson, E.M.2
Kidd, A.3
Savarirayan, R.4
Turner, A.5
Amor, D.6
Delatycki, M.B.7
Fahey, M.8
Baxendale, A.9
White, S.10
Haan, E.11
Gibson, K.12
Halliday, J.L.13
Bankier, A.14
-
49
-
-
84944161087
-
Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis
-
Zhang J, Dominguez-Sola D, Hussein S, Lee JE, Holmes AB, Bansal M, Vlasevska S, Mo T, Tang H, Basso K, Ge K, Dalla-Favera R, Pasqualucci L. 2015. Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis. Nat Med 21:1190-1198.
-
(2015)
Nat Med
, vol.21
, pp. 1190-1198
-
-
Zhang, J.1
Dominguez-Sola, D.2
Hussein, S.3
Lee, J.E.4
Holmes, A.B.5
Bansal, M.6
Vlasevska, S.7
Mo, T.8
Tang, H.9
Basso, K.10
Ge, K.11
Dalla-Favera, R.12
Pasqualucci, L.13
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