-
1
-
-
84873275502
-
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
-
10.1186/gm415, 23383720
-
Bainbridge MN, Hao H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med 2013, 5:11. 10.1186/gm415, 23383720.
-
(2013)
Genome Med
, vol.5
, pp. 11
-
-
Bainbridge, M.N.1
Hao, H.2
Muzny, D.M.3
Musante, L.4
Lupski, J.R.5
Graham, B.H.6
Chen, W.7
Gripp, K.W.8
Wienker, T.F.9
Yang, Y.10
Sutton, V.R.11
Gibbs, R.A.12
Ropers, H.H.13
-
2
-
-
0031946630
-
The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes.
-
Sinclair DA, Milne TA, Hodgson JW, Shellard J, Salinas CA, Kyba M, Randazzo F, Brock HW. The Additional sex combs gene of Drosophila encodes a chromatin protein that binds to shared and unique Polycomb group sites on polytene chromosomes. Development 1998, 125:1207-1216.
-
(1998)
Development
, vol.125
, pp. 1207-1216
-
-
Sinclair, D.A.1
Milne, T.A.2
Hodgson, J.W.3
Shellard, J.4
Salinas, C.A.5
Kyba, M.6
Randazzo, F.7
Brock, H.W.8
-
3
-
-
14644397144
-
Identification and characterization of ASXL3 gene in silico.
-
Katoh M, Katoh M. Identification and characterization of ASXL3 gene in silico. Int J Oncol 2004, 24:1617-1622.
-
(2004)
Int J Oncol
, vol.24
, pp. 1617-1622
-
-
Katoh, M.1
Katoh, M.2
-
4
-
-
79960909421
-
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
-
10.1038/ng.868, 21706002
-
Hoischen A, van Bon BWM, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet 2011, 43:729-731. 10.1038/ng.868, 21706002.
-
(2011)
Nat Genet
, vol.43
, pp. 729-731
-
-
Hoischen, A.1
van Bon, B.W.M.2
Rodriguez-Santiago, B.3
Gilissen, C.4
Vissers, L.E.5
de Vries, P.6
Janssen, I.7
van Lier, B.8
Hastings, R.9
Smithson, S.F.10
Newbury-Ecob, R.11
Kjaergaard, S.12
Goodship, J.13
McGowan, R.14
Bartholdi, D.15
Rauch, A.16
Peippo, M.17
Cobben, J.M.18
Wieczorek, D.19
Gillessen-Kaesbach, G.20
Veltman, J.A.21
Brunner, H.G.22
de Vries, B.B.23
more..
-
5
-
-
84859005398
-
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
-
10.1002/ajmg.a.35265, 22419483
-
Magini P, Monica MD, Uzielli MLG, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M. Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. Am J Med Genet A 2012, 158A:917-921. 10.1002/ajmg.a.35265, 22419483.
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 917-921
-
-
Magini, P.1
Monica, M.D.2
Uzielli, M.L.G.3
Mongelli, P.4
Scarselli, G.5
Gambineri, E.6
Scarano, G.7
Seri, M.8
-
6
-
-
77952421834
-
Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia.
-
10.1038/leu.2010.20, 20182461
-
Boultwood J, Perry J, Pellagatti A, Fernandez-Mercado M, Fernandez-Santamaria C, Calasanz MJ, Larrayoz MJ, Garcia-Delgado M, Giagounidis A, Malcovati L, Della Porta MG, Jädersten M, Killick S, Hellström-Lindberg E, Cazzola M, Wainscoat JS. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia 2010, 24:1062-1065. 10.1038/leu.2010.20, 20182461.
-
(2010)
Leukemia
, vol.24
, pp. 1062-1065
-
-
Boultwood, J.1
Perry, J.2
Pellagatti, A.3
Fernandez-Mercado, M.4
Fernandez-Santamaria, C.5
Calasanz, M.J.6
Larrayoz, M.J.7
Garcia-Delgado, M.8
Giagounidis, A.9
Malcovati, L.10
Della Porta, M.G.11
Jädersten, M.12
Killick, S.13
Hellström-Lindberg, E.14
Cazzola, M.15
Wainscoat, J.S.16
-
7
-
-
79955043471
-
Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.
-
10.1002/ajmg.c.30300, 3086183, 21500339
-
Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011, 157:83-89. 10.1002/ajmg.c.30300, 3086183, 21500339.
-
(2011)
Am J Med Genet C Semin Med Genet
, vol.157
, pp. 83-89
-
-
Kratz, C.P.1
Rapisuwon, S.2
Reed, H.3
Hasle, H.4
Rosenberg, P.S.5
-
8
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
-
10.1038/ng.2331, 3408813, 22729224
-
Riviere J-B, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcanrtara D, Conway RJ, St-Onge J, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluferiu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GMS, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012, 44:934-940. 10.1038/ng.2331, 3408813, 22729224.
-
(2012)
Nat Genet
, vol.44
, pp. 934-940
-
-
Riviere, J.-B.1
Mirzaa, G.M.2
O'Roak, B.J.3
Beddaoui, M.4
Alcanrtara, D.5
Conway, R.J.6
St-Onge, J.7
Worthylake, T.8
Sullivan, C.T.9
Ward, T.R.10
Butler, H.E.11
Kramer, N.A.12
Albrecht, B.13
Armour, C.M.14
Armstrong, L.15
Caluferiu, O.16
Cytrynbaum, C.17
Drolet, B.A.18
Innes, A.M.19
Lauzon, J.L.20
Lin, A.E.21
Mancini, G.M.S.22
Meschino, W.S.23
Reggin, J.D.24
Saggar, A.K.25
Lerman-Sagie, T.26
Uyanik, G.27
more..
-
9
-
-
77957599933
-
A case of probable Bohring-Opitz syndrome with medulloblastoma.
-
10.1097/MCD.0b013e32833e07de, 20717007
-
Hastings RW, Newbury-Ecob R, Lunt PW. A case of probable Bohring-Opitz syndrome with medulloblastoma. Clin Dysmorphol 2010, 19:202-205. 10.1097/MCD.0b013e32833e07de, 20717007.
-
(2010)
Clin Dysmorphol
, vol.19
, pp. 202-205
-
-
Hastings, R.W.1
Newbury-Ecob, R.2
Lunt, P.W.3
-
10
-
-
0034686549
-
Bohring syndrome.
-
10.1002/1096-8628(20000619)92:5<366::AID-AJMG15>3.0.CO;2-U, 10861670
-
Brunner HG, van Tintelen JP, de Boer RJ. Bohring syndrome. Am J Med Genet 2000, 92:366-368. 10.1002/1096-8628(20000619)92:5<366::AID-AJMG15>3.0.CO;2-U, 10861670.
-
(2000)
Am J Med Genet
, vol.92
, pp. 366-368
-
-
Brunner, H.G.1
van Tintelen, J.P.2
de Boer, R.J.3
|