-
1
-
-
0029798614
-
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
-
Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176
-
(1996)
Nat. Genet.
, vol.14
, pp. 174-176
-
-
Bellus, G.A.1
Gaudenz, K.2
Zackai, E.H.3
Clarke, L.A.4
Szabo, J.5
Francomano, C.A.6
Muenke, M.7
-
2
-
-
0035657960
-
Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: A preliminary report
-
Cassileth LB, Bartlett SP, Glat PM, Gripp KW, Muenke M, Zackai EH, Whitaker LA (2001) Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report. Plast Reconstr Surg 108:1849-1854
-
(2001)
Plast. Reconstr. Surg.
, vol.108
, pp. 1849-1854
-
-
Cassileth, L.B.1
Bartlett, S.P.2
Glat, P.M.3
Gripp, K.W.4
Muenke, M.5
Zackai, E.H.6
Whitaker, L.A.7
-
3
-
-
0030837389
-
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family
-
Golla A, Lichtner P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. J Med Genet 34:683-684
-
(1997)
J. Med. Genet.
, vol.34
, pp. 683-684
-
-
Golla, A.1
Lichtner, P.2
von Gernet, S.3
Winterpacht, A.4
Fairley, J.5
Murken, J.6
Schuffenhauer, S.7
-
4
-
-
0032557724
-
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
-
Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW (1998) Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet 77:322-329
-
(1998)
Am. J. Med. Genet.
, vol.77
, pp. 322-329
-
-
Graham Jr., J.M.1
Braddock, S.R.2
Mortier, G.R.3
Lachman, R.4
Van Dop, C.5
Jabs, E.W.6
-
5
-
-
0031923323
-
Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3
-
Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, Mayro R, Zackai EH, Muenke M (1998) Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. J Pediatr 132:714-716
-
(1998)
J. Pediatr.
, vol.132
, pp. 714-716
-
-
Gripp, K.W.1
McDonald-McGinn, D.M.2
Gaudenz, K.3
Whitaker, L.A.4
Bartlett, S.P.5
Glat, P.M.6
Cassileth, L.B.7
Mayro, R.8
Zackai, E.H.9
Muenke, M.10
-
6
-
-
0042322712
-
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia
-
Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, Mostardini R, Morgese G, Balestri P (2003) Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. Am J Med Genet 120:88-91
-
(2003)
Am. J. Med. Genet.
, vol.120
, pp. 88-91
-
-
Grosso, S.1
Farnetani, M.A.2
Berardi, R.3
Bartalini, G.4
Carpentieri, M.5
Galluzzi, P.6
Mostardini, R.7
Morgese, G.8
Balestri, P.9
-
7
-
-
0032737329
-
Craniosynostosis syndromes: From genes to premature fusion of skull bones
-
Hehr U, Muenke M (1999) Craniosynostosis syndromes: from genes to premature fusion of skull bones. Mol Genet Metab 68:139-151
-
(1999)
Mol. Genet. Metab.
, vol.68
, pp. 139-151
-
-
Hehr, U.1
Muenke, M.2
-
8
-
-
0032554570
-
Deafness due to pro250-to-arg mutation of FGFR3
-
Hollway GE, Suthers GK, Battese KM, Turner AM, David DJ, Mulley JC (1998) Deafness due to pro250-to-arg mutation of FGFR3. Lancet 351:877-878
-
(1998)
Lancet
, vol.351
, pp. 877-878
-
-
Hollway, G.E.1
Suthers, G.K.2
Battese, K.M.3
Turner, A.M.4
David, D.J.5
Mulley, J.C.6
-
9
-
-
0032961402
-
Sex related expressivity of the phenotype in coronal craniosynost osis caused by the recurrent P250R FGFR3 mutation
-
Lajeunie E, El Ghouzzi V, Le Merrer M, Munnich A, Bonaventure J, Renier D (1999) Sex related expressivity of the phenotype in coronal craniosynost osis caused by the recurrent P250R FGFR3 mutation. J Med Genet 36:9-13
-
(1999)
J. Med. Genet.
, vol.36
, pp. 9-13
-
-
Lajeunie, E.1
El Ghouzzi, V.2
Le Merrer, M.3
Munnich, A.4
Bonaventure, J.5
Renier, D.6
-
10
-
-
0030887722
-
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
-
Moloney DM, Wall SA, Ashworth GJ, Oldridge M, Glass IA, Francomano CA, Muenke M, Wilkie AO (1997) Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349:1059-1062
-
(1997)
Lancet
, vol.349
, pp. 1059-1062
-
-
Moloney, D.M.1
Wall, S.A.2
Ashworth, G.J.3
Oldridge, M.4
Glass, I.A.5
Francomano, C.A.6
Muenke, M.7
Wilkie, A.O.8
-
11
-
-
16944367030
-
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
-
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken W, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AOM, Zackai EH (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 555-564
-
-
Muenke, M.1
Gripp, K.W.2
McDonald-McGinn, D.M.3
Gaudenz, K.4
Whitaker, L.A.5
Bartlett, S.P.6
Markowitz, R.I.7
Robin, N.H.8
Nwokoro, N.9
Mulvihill, J.J.10
Losken, W.11
Mulliken, J.B.12
Guttmacher, A.E.13
Wilroy, R.S.14
Clarke, L.A.15
Hollway, G.16
Ades, L.C.17
Haan, E.A.18
Mulley, J.C.19
Cohen Jr., M.M.20
Bellus, G.A.21
Francomano, C.A.22
Moloney, D.M.23
Wall, S.A.24
Wilkie, A.O.M.25
Zackai, E.H.26
more..
-
13
-
-
16944366124
-
Craniosynostosis associated with FGFR3 pro250-to-arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis
-
Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JCS, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraitser M, Winter RM (1997) Craniosynostosis associated with FGFR3 pro250-to-arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet 34:632-636
-
(1997)
J. Med. Genet.
, vol.34
, pp. 632-636
-
-
Reardon, W.1
Wilkes, D.2
Rutland, P.3
Pulleyn, L.J.4
Malcolm, S.5
Dean, J.C.S.6
Evans, R.D.7
Jones, B.M.8
Hayward, R.9
Hall, C.M.10
Nevin, N.C.11
Baraitser, M.12
Winter, R.M.13
-
15
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-342
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
Church, D.M.4
Fielder, T.J.5
Bocian, M.6
Winokur, S.T.7
Wasmuth, J.J.8
-
17
-
-
0028872752
-
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
-
Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 9:321-328
-
(1995)
Nat. Genet.
, vol.9
, pp. 321-328
-
-
Tavormina, P.L.1
Shiang, R.2
Thompson, L.M.3
Zhu, Y.Z.4
Wilkin, D.J.5
Lachman, R.S.6
Wilcox, W.R.7
Rimoin, D.L.8
Cohn, D.H.9
Wasmuth, J.J.10
-
18
-
-
0038182228
-
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation
-
Trusen A, Beissert M, Collmann H, Darge K (2003) The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. Pediatr Radiol 33:168-172
-
(2003)
Pediatr. Radiol.
, vol.33
, pp. 168-172
-
-
Trusen, A.1
Beissert, M.2
Collmann, H.3
Darge, K.4
-
19
-
-
0033885194
-
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic cranoisynostosis
-
Tsai FJ, Wu JY, Lee CC, Tsa CH (2000) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic cranoisynostosis. Acta Paediatr 89:672-674
-
(2000)
Acta Paediatr.
, vol.89
, pp. 672-674
-
-
Tsai, F.J.1
Wu, J.Y.2
Lee, C.C.3
Tsa, C.H.4
-
20
-
-
0034464005
-
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
-
Vajo Z, Francomano CA, Wilkin DJ (2000) The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 21:23-39
-
(2000)
Endocr. Rev.
, vol.21
, pp. 23-39
-
-
Vajo, Z.1
Francomano, C.A.2
Wilkin, D.J.3
|