-
1
-
-
0029640960
-
Craniosynostosis: Phenotypic/molecular correlations
-
Cohen MM Jr (1995) Craniosynostosis: phenotypic/molecular correlations. Am J Med Genet 56: 334
-
(1995)
Am J Med Genet
, vol.56
, pp. 334
-
-
Cohen Jr., M.M.1
-
2
-
-
4243578041
-
Molecular biology of craniosynostosis with special emphasis on fibroblast growth factor receptors
-
Cohen MM Jr, Baum BJ (eds) IOS Press, Amsterdam
-
Cohen MM Jr (1997) Molecular biology of craniosynostosis with special emphasis on fibroblast growth factor receptors. In: Cohen MM Jr, Baum BJ (eds) Studies in stomatology and molecular biology. IOS Press, Amsterdam
-
(1997)
Studies in Stomatology and Molecular Biology
-
-
Cohen Jr., M.M.1
-
3
-
-
0027050480
-
Complexity of FGF receptors: Genetic basis for structural diversity and functional specificity
-
Givof D, Yayon A (1992) Complexity of FGF receptors: genetic basis for structural diversity and functional specificity. FASEB J 6: 3362
-
(1992)
FASEB J
, vol.6
, pp. 3362
-
-
Givof, D.1
Yayon, A.2
-
4
-
-
0027344852
-
Structural and functional diversity in the FGF receptor multigene family
-
Johnson DE, Williams LT (1993) Structural and functional diversity in the FGF receptor multigene family. Adv Cancer Res 60: 1
-
(1993)
Adv Cancer Res
, vol.60
, pp. 1
-
-
Johnson, D.E.1
Williams, L.T.2
-
5
-
-
0028088073
-
The ins and outs of fibroblast growth factors
-
Mason IJ (1994) The ins and outs of fibroblast growth factors. Cell 78: 547
-
(1994)
Cell
, vol.78
, pp. 547
-
-
Mason, I.J.1
-
6
-
-
0026570847
-
Determination of ligand-binding specificity by alternative splicing: Two distinct growth factor receptors encoded by a single gene
-
Miki T, Bottaro DP, Fleming TP, Smith CL, Burgess WH, Chan AM-L, Aaronson SA (1992) Determination of ligand-binding specificity by alternative splicing: two distinct growth factor receptors encoded by a single gene. Biochemistry 89: 246
-
(1992)
Biochemistry
, vol.89
, pp. 246
-
-
Miki, T.1
Bottaro, D.P.2
Fleming, T.P.3
Smith, C.L.4
Burgess, W.H.5
Chan, A.M.-L.6
Aaronson, S.A.7
-
7
-
-
0029089845
-
Crouzon syndrome: Mutations in two spliceoforms of FGFR 2 and a common point mutation shared with Jackson-Weiss syndrome
-
Gorry MC, Preston RA, White GJ, Zhang Y, Singhai VK, Losken HW, Parker MG, Nwokoro NA, Post JC, Ehrlich GD (1995) Crouzon syndrome: mutations in two spliceoforms of FGFR 2 and a common point mutation shared with Jackson-Weiss syndrome. Hum Mol Genet 4: 1387
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1387
-
-
Gorry, M.C.1
Preston, R.A.2
White, G.J.3
Zhang, Y.4
Singhai, V.K.5
Losken, H.W.6
Parker, M.G.7
Nwokoro, N.A.8
Post, J.C.9
Ehrlich, G.D.10
-
8
-
-
0028113931
-
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
-
Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao J, Carnas LR, Jackson CE, Jaye M (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet 8: 275
-
(1994)
Nature Genet
, vol.8
, pp. 275
-
-
Jabs, E.W.1
Li, X.2
Scott, A.F.3
Meyers, G.4
Chen, W.5
Eccles, M.6
Mao, J.7
Carnas, L.R.8
Jackson, C.E.9
Jaye, M.10
-
9
-
-
0029242747
-
FGFR 2 mutations in Pfeiffer syndrome
-
Lajeunie E, Wei Ma H, Bonaventure J, Munnich A, Le Merrer M, Renier D (1995) FGFR 2 mutations in Pfeiffer syndrome. Nature Genet 9: 108
-
(1995)
Nature Genet
, vol.9
, pp. 108
-
-
Lajeunie, E.1
Wei Ma, H.2
Bonaventure, J.3
Munnich, A.4
Le Merrer, M.5
Renier, D.6
-
11
-
-
0029031730
-
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome
-
Oldridge M, Wilkie AOM, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJC, Goldin IH, Winter RM, Reardon W, Malcolm S (1995) Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Hum Mol Genet 4: 1077
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1077
-
-
Oldridge, M.1
Wilkie, A.O.M.2
Slaney, S.F.3
Poole, M.D.4
Pulleyn, L.J.5
Rutland, P.6
Hockley, A.D.7
Wake, M.J.C.8
Goldin, I.H.9
Winter, R.M.10
Reardon, W.11
Malcolm, S.12
-
12
-
-
0029004086
-
Novel FGFR 2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
-
Park W-J, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW (1995) Novel FGFR 2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4: 1229
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1229
-
-
Park, W.-J.1
Meyers, G.A.2
Li, X.3
Theda, C.4
Day, D.5
Orlow, S.J.6
Jones, M.C.7
Jabs, E.W.8
-
14
-
-
0027981524
-
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
-
Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet 8: 98
-
(1994)
Nature Genet
, vol.8
, pp. 98
-
-
Reardon, W.1
Winter, R.M.2
Rutland, P.3
Pulleyn, L.J.4
Jones, B.M.5
Malcolm, S.6
-
15
-
-
0029298121
-
Stop codon FGFR 3 mutations in thanatophoric dwarfism type 1
-
Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide A-L, Maroteaux P, Bonaventure J, Narcy F, Sanak M (1995) Stop codon FGFR 3 mutations in thanatophoric dwarfism type 1. Nature Genet 10: 11
-
(1995)
Nature Genet
, vol.10
, pp. 11
-
-
Rousseau, F.1
Saugier, P.2
Le Merrer, M.3
Munnich, A.4
Delezoide, A.-L.5
Maroteaux, P.6
Bonaventure, J.7
Narcy, F.8
Sanak, M.9
-
16
-
-
0029109137
-
Identical mutations in the FGFR 2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
-
Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF. Poole MD, Wilkie AOM (1995) Identical mutations in the FGFR 2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 9: 173
-
(1995)
Nature Genet
, vol.9
, pp. 173
-
-
Rutland, P.1
Pulleyn, L.J.2
Reardon, W.3
Baraitser, M.4
Hayward, R.5
Jones, B.6
Malcolm, S.7
Winter, R.M.8
Oldridge, M.9
Slaney, S.F.10
Poole, M.D.11
Wilkie, A.O.M.12
-
17
-
-
0028930046
-
Mutations in FGFR 1 and FGFR 2 cause familial and sporadic Pfeiffer syndrome
-
Schell U, Hehr A, Feldman GJ, Robin NH, Zackai EH, de Die-Smulders C, Viskochil DH, Stewart JM, Wolff G, Ohashi H, Price RA, Cohen MM Jr, Muenke M (1995) Mutations in FGFR 1 and FGFR 2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 4: 323
-
(1995)
Hum Mol Genet
, vol.4
, pp. 323
-
-
Schell, U.1
Hehr, A.2
Feldman, G.J.3
Robin, N.H.4
Zackai, E.H.5
De Die-Smulders, C.6
Viskochil, D.H.7
Stewart, J.M.8
Wolff, G.9
Ohashi, H.10
Price, R.A.11
Cohen Jr., M.M.12
Muenke, M.13
-
18
-
-
0028872752
-
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
-
Tavormina PL, Shiang R, Thompson LM, Zhu Y-Z, 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. Nature Genet 9: 321
-
(1995)
Nature Genet
, vol.9
, pp. 321
-
-
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
-
19
-
-
0028046606
-
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
-
Muenke M, Schell T, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, Winter RM (1994) A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet 8: 269
-
(1994)
Nature Genet
, vol.8
, pp. 269
-
-
Muenke, M.1
Schell, T.2
Hehr, A.3
Robin, N.H.4
Losken, H.W.5
Schinzel, A.6
Pulleyn, L.J.7
Rutland, P.8
Reardon, W.9
Malcolm, S.10
Winter, R.M.11
-
20
-
-
0028583142
-
Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
-
Robin NH, Feldman GJ, Mitchell HF, Lorenz P, Wilroy RS, Zackai EH, Allanson JE, Reich EW, Pfeiffer RA, Clarke LA, Warman ML, Mulliken JB, Brueton LA, Winter RM, Price RA, Gasser DL, Muenke M (1994) Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Hum Mol Genet 3: 2153
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2153
-
-
Robin, N.H.1
Feldman, G.J.2
Mitchell, H.F.3
Lorenz, P.4
Wilroy, R.S.5
Zackai, E.H.6
Allanson, J.E.7
Reich, E.W.8
Pfeiffer, R.A.9
Clarke, L.A.10
Warman, M.L.11
Mulliken, J.B.12
Brueton, L.A.13
Winter, R.M.14
Price, R.A.15
Gasser, D.L.16
Muenke, M.17
-
21
-
-
0028890851
-
Achondroplasia is defined by recurrent G 380 R mutations of FGFR 3
-
Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA (1995) Achondroplasia is defined by recurrent G 380 R mutations of FGFR 3. Am J Hum Genet 56: 368
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368
-
-
Bellus, G.A.1
Hefferon, T.W.2
Ortiz De Luna, R.I.3
Hecht, J.T.4
Horton, W.A.5
Machado, M.6
Kaitila, I.7
McIntosh, I.8
Francomano, C.A.9
-
22
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR 3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R, Thompson LM, Zhu Y-Z, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR 3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78: 335
-
(1994)
Cell
, vol.78
, pp. 335
-
-
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
-
23
-
-
0029059280
-
Analysis of phenotypic features and FGFR 2 mutations in Apert syndrome
-
Park W-J, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW (1995) Analysis of phenotypic features and FGFR 2 mutations in Apert syndrome. Am J Hum Genet 57: 321
-
(1995)
Am J Hum Genet
, vol.57
, pp. 321
-
-
Park, W.-J.1
Theda, C.2
Maestri, N.E.3
Meyers, G.A.4
Fryburg, J.S.5
Dufresne, C.6
Cohen Jr., M.M.7
Jabs, E.W.8
-
24
-
-
0028798546
-
Apert syndrome results from localized mutations of FGFR 2 and is allelic with Crouzon syndrome
-
Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W (1995) Apert syndrome results from localized mutations of FGFR 2 and is allelic with Crouzon syndrome. Nature Genet 9: 165
-
(1995)
Nature Genet
, vol.9
, pp. 165
-
-
Wilkie, A.O.M.1
Slaney, S.F.2
Oldridge, M.3
Poole, M.D.4
Ashworth, G.J.5
Hockley, A.D.6
Hayward, R.D.7
David, D.J.8
Pulleyn, L.J.9
Rutland, P.10
Malcolm, S.11
Winter, R.M.12
Reardon, W.13
-
25
-
-
0028793472
-
Fibroblast growth factor receptor 3 (FGFR 3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
-
Meyers GA, Orlow SJ, Munro FR, Przylepa KA, Jatz EW (1995) Fibroblast growth factor receptor 3 (FGFR 3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genet 11: 462
-
(1995)
Nature Genet
, vol.11
, pp. 462
-
-
Meyers, G.A.1
Orlow, S.J.2
Munro, F.R.3
Przylepa, K.A.4
Jatz, E.W.5
-
26
-
-
0029269385
-
Effect on splicing of a silent FGFR 2 mutation in Crouzon syndrome
-
Li X, Park W-J, Pyeritz RE, Jabs EW (1995) Effect on splicing of a silent FGFR 2 mutation in Crouzon syndrome. Nature Genet 9: 232
-
(1995)
Nature Genet
, vol.9
, pp. 232
-
-
Li, X.1
Park, W.-J.2
Pyeritz, R.E.3
Jabs, E.W.4
-
27
-
-
0029257552
-
The importance of being sulphated
-
Wallis GA (1995) The importance of being sulphated. Curr Biol 5: 225
-
(1995)
Curr Biol
, vol.5
, pp. 225
-
-
Wallis, G.A.1
-
28
-
-
0003172887
-
A novel G346E FGFR 3 mutation in achondroplasia
-
abstract 894
-
Prinos P, Kilpatrick MW, Tsipouras P (1995) A novel G346E FGFR 3 mutation in achondroplasia. Pediatr Res 37 (4) pt 2: 151 A (abstract 894)
-
(1995)
Pediatr Res
, vol.37
, Issue.2-4 PART
-
-
Prinos, P.1
Kilpatrick, M.W.2
Tsipouras, P.3
-
29
-
-
0028928630
-
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
-
Superti-Furga A, Eich G, Bucher HU, Wisser J, Giedion A, Gitzelmann R, Steinmann B (1995) A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Eur J Pediatr 154: 215
-
(1995)
Eur J Pediatr
, vol.154
, pp. 215
-
-
Superti-Furga, A.1
Eich, G.2
Bucher, H.U.3
Wisser, J.4
Giedion, A.5
Gitzelmann, R.6
Steinmann, B.7
-
30
-
-
0029032394
-
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
-
Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA (1995) A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nature Genet 10: 357
-
(1995)
Nature Genet
, vol.10
, pp. 357
-
-
Bellus, G.A.1
McIntosh, I.2
Smith, E.A.3
Aylsworth, A.S.4
Kaitila, I.5
Horton, W.A.6
Greenhaw, G.A.7
Hecht, J.T.8
Francomano, C.A.9
-
31
-
-
0025032508
-
Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors
-
Dionne CA, Crumley G, Bellot F, Kaplow JM, Searfoss G, Ruta M, Burgess WH, Jaye M, Schlessinger J (1990) Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors. EMBO J 9: 2685
-
(1990)
EMBO J
, vol.9
, pp. 2685
-
-
Dionne, C.A.1
Crumley, G.2
Bellot, F.3
Kaplow, J.M.4
Searfoss, G.5
Ruta, M.6
Burgess, W.H.7
Jaye, M.8
Schlessinger, J.9
-
32
-
-
0025086957
-
Related fibroblast growth factor receptor genes exist in the human genome
-
Houssaint E, Blanquet PR, Champion-Arnaud P, Gesnel MC, Torriglia A, Courtois Y, Breathnach R (1990) Related fibroblast growth factor receptor genes exist in the human genome. Proc Natl Acad Sci USA 87: 8180
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8180
-
-
Houssaint, E.1
Blanquet, P.R.2
Champion-Arnaud, P.3
Gesnel, M.C.4
Torriglia, A.5
Courtois, Y.6
Breathnach, R.7
-
33
-
-
1842298914
-
Phenotype-genotype correlations in Apert syndrome
-
Kruger National Park, South Africa, 31 March-2 April
-
Slaney SF, Wilkie AOM, Oldridge M, Hurst JA, Poole MD (1995) Phenotype-genotype correlations in Apert syndrome. Fourth International Workshop on Fetal Genetic Pathology, Kruger National Park, South Africa, 31 March-2 April
-
(1995)
Fourth International Workshop on Fetal Genetic Pathology
-
-
Slaney, S.F.1
Wilkie, A.O.M.2
Oldridge, M.3
Hurst, J.A.4
Poole, M.D.5
-
34
-
-
0028900502
-
Correction: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
-
Jabs EW (1995) Correction: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet 9: 451
-
(1995)
Nature Genet
, vol.9
, pp. 451
-
-
Jabs, E.W.1
|