-
1
-
-
0014499309
-
Cutis gyratum, acanthosis nigricans and other congenital anomalies: A new syndrome
-
Beare JM, Dodge JA, Nevin NC. Cutis gyratum, acanthosis nigricans and other congenital anomalies: a new syndrome. Br J Derm 1969: 81: 241-247.
-
(1969)
Br. J. Derm.
, vol.81
, pp. 241-247
-
-
Beare, J.M.1
Dodge, J.A.2
Nevin, N.C.3
-
3
-
-
0028012639
-
Congenital craniofacial dysostosis and cutis gyratum: The Beare-Stevenson syndrome
-
Bratanic B, Praprotnik M, Novosel-Sever M. Congenital craniofacial dysostosis and cutis gyratum: the Beare-Stevenson syndrome. Eur J Pediatr 1994: 153: 184-186.
-
(1994)
Eur. J. Pediatr.
, vol.153
, pp. 184-186
-
-
Bratanic, B.1
Praprotnik, M.2
Novosel-Sever, M.3
-
4
-
-
0026744679
-
Beare-Stevenson cutis gyrata syndrome
-
Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM. Beare-Stevenson cutis gyrata syndrome. Am J Med Genet 1992: 44: 82-89.
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 82-89
-
-
Hall, B.D.1
Cadle, R.G.2
Golabi, M.3
Morris, C.A.4
Cohen, M.M.5
-
5
-
-
0030197661
-
A cloverleaf skull syndrome probably of Beare-Stevenson type associated with Chiari malformation
-
Ito S, Matsui K, Ohsaki E, Goto DA, Takagi K, Koresawa M, et al. A cloverleaf skull syndrome probably of Beare-Stevenson type associated with Chiari malformation. Brain Dev 1996: 18: 307-311.
-
(1996)
Brain Dev.
, vol.18
, pp. 307-311
-
-
Ito, S.1
Matsui, K.2
Ohsaki, E.3
Goto, D.A.4
Takagi, K.5
Koresawa, M.6
-
6
-
-
0032054062
-
FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome
-
Krepelova A, Baxova A, Calda P, Plavka P, Kapras J. FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome. Am J Med Genet 1998: 76: 362-364.
-
(1998)
Am. J. Med. Genet.
, vol.76
, pp. 362-364
-
-
Krepelova, A.1
Baxova, A.2
Calda, P.3
Plavka, P.4
Kapras, J.5
-
7
-
-
15844388219
-
Fibroblast growth factor receptor 2 mutations in Beare Stevenson cutis gyrata syndrome
-
Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, et al.. Fibroblast growth factor receptor 2 mutations in Beare Stevenson cutis gyrata syndrome. Nat Genet 1996: 13: 492-494.
-
(1996)
Nat. Genet.
, vol.13
, pp. 492-494
-
-
Przylepa, K.A.1
Paznekas, W.2
Zhang, M.3
Golabi, M.4
Bias, W.5
Bamshad, M.J.6
-
8
-
-
0028798546
-
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
-
Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 1995: 9: 165-172.
-
(1995)
Nature Genet.
, vol.9
, pp. 165-172
-
-
Wilkie, A.O.M.1
Slaney, S.F.2
Oldridge, M.3
Poole, M.D.4
Ashworth, G.J.5
Hockley, A.D.6
-
9
-
-
0027981524
-
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
-
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm SD. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet 1994: 8: 98-103.
-
(1994)
Nature Genet.
, vol.8
, pp. 98-103
-
-
Reardon, W.1
Winter, R.M.2
Rutland, P.3
Pulleyn, L.J.4
Jones, B.M.5
Malcolm, S.D.6
-
10
-
-
0031468344
-
Jackson-Weiss syndrome: Identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
-
Tartaglia M, Di Rocco C, Lajeunie E, Valeri S, Velard F, Battaglia PA. Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders. Hum Genet 1997: 101: 47-50.
-
(1997)
Hum. Genet.
, vol.101
, pp. 47-50
-
-
Tartaglia, M.1
Di Rocco, C.2
Lajeunie, E.3
Valeri, S.4
Velard, F.5
Battaglia, P.A.6
-
11
-
-
0029242747
-
FGFR2 mutations in Pfeiffer syndrome
-
Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D. FGFR2 mutations in Pfeiffer syndrome. Nat Genet 1995: 9: 108.
-
(1995)
Nat. Genet.
, vol.9
, pp. 108
-
-
Lajeunie, E.1
Ma, H.W.2
Bonaventure, J.3
Munnich, A.4
Le Merrer, M.5
Renier, D.6
-
12
-
-
0028295419
-
Nonhereditary p53 mutations in T-cell acute lymphoblastic leukemia are associated with the relapse phase
-
Hsiao M, Yu AL, Yeargin J, Ku D, Haas M. Nonhereditary p53 mutations in T-cell acute lymphoblastic leukemia are associated with the relapse phase. Blood 1994: 83: 2922-2930.
-
(1994)
Blood
, vol.83
, pp. 2922-2930
-
-
Hsiao, M.1
Yu, A.L.2
Yeargin, J.3
Ku, D.4
Haas, M.5
-
13
-
-
0034640103
-
Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity
-
Plotnikov AN, Hubbard SR, Schlessinger J, Mohammadi M. Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity. Cell 2000: 101: 413-424.
-
(2000)
Cell
, vol.101
, pp. 413-424
-
-
Plotnikov, A.N.1
Hubbard, S.R.2
Schlessinger, J.3
Mohammadi, M.4
|