-
1
-
-
0042322712
-
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia
-
Grosso S., Farnetani MA, Berardi R., et al. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. Am J Med Genet. 2003; 120A: 88-91.
-
(2003)
Am J Med Genet.
, vol.120 A
, pp. 88-91
-
-
Grosso, S.1
Farnetani, M.A.2
Berardi, R.3
-
2
-
-
27444431584
-
Medial temporal lobe dysgenesis in hypochondroplasia
-
Kannu P., Hayes IM, Mandelstam S., et al. Medial temporal lobe dysgenesis in hypochondroplasia. Am J Med Geret. 2005; 138: 389-391.
-
(2005)
Am J Med Geret.
, vol.138
, pp. 389-391
-
-
Kannu, P.1
Hayes, I.M.2
Mandelstam, S.3
-
3
-
-
0029032394
-
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
-
Bellus GA, McIntosh I., Smith EA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet. 1995; 10: 357-359.
-
(1995)
Nat Genet.
, vol.10
, pp. 357-359
-
-
Bellus, G.A.1
McIntosh, I.2
Smith, E.A.3
-
4
-
-
0028829310
-
A common FGFR3 gene mutation in hypochondroplasia
-
Prinos P., Costa T., Sommer A., Kilpatrick MW, Tsipouras P. A common FGFR3 gene mutation in hypochondroplasia. Hum Mol Genet. 1995; 4: 2097-2101.
-
(1995)
Hum Mol Genet.
, vol.4
, pp. 2097-2101
-
-
Prinos, P.1
Costa, T.2
Sommer, A.3
Kilpatrick, M.W.4
Tsipouras, P.5
-
5
-
-
0028063908
-
Fibroblast growth factors: Activities and significance of non-neurotrophic growth factors
-
Baird A. Fibroblast growth factors: Activities and significance of non-neurotrophic growth factors. Curr Opin Neurobiol. 1994; 4: 78-86.
-
(1994)
Curr Opin Neurobiol.
, vol.4
, pp. 78-86
-
-
Baird, A.1
-
6
-
-
0026345681
-
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4
-
Thompson LM, Plummer S., Schalling M., et al. A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4. Genomics. 1991; 11: 1133-1142.
-
(1991)
Genomics
, vol.11
, pp. 1133-1142
-
-
Thompson, L.M.1
Plummer, S.2
Schalling, M.3
-
7
-
-
0033659625
-
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype
-
Bellus GA, Spector EB, Speiser PW, et al. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet. 2000; 67: 1411-1421.
-
(2000)
Am J Hum Genet.
, vol.67
, pp. 1411-1421
-
-
Bellus, G.A.1
Spector, E.B.2
Speiser, P.W.3
-
8
-
-
0036926992
-
Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
-
van Rhijn BW, van Tilborg AA, Lurkin I., et al. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet. 2002; 10: 819-824.
-
(2002)
Eur J Hum Genet.
, vol.10
, pp. 819-824
-
-
van Rhijn, B.W.1
van Tilborg, A.A.2
Lurkin, I.3
-
9
-
-
1242316264
-
Fibroblast growth factor receptor 3 signaling regulates injury-related effects in the peripheral nervous system
-
Jungnickel J., Gransalke K., Timmer M., Grothe C. Fibroblast growth factor receptor 3 signaling regulates injury-related effects in the peripheral nervous system. Mol Cell Neurosci. 2004; 25: 21-29.
-
(2004)
Mol Cell Neurosci.
, vol.25
, pp. 21-29
-
-
Jungnickel, J.1
Gransalke, K.2
Timmer, M.3
Grothe, C.4
-
10
-
-
0035873157
-
Complex trait analysis of the hippocampus: Mapping and biometric analysis of two novel gene loci with specific effects on hippocampal structure in mice
-
Lu L., Airey DC, Williams RW Complex trait analysis of the hippocampus: mapping and biometric analysis of two novel gene loci with specific effects on hippocampal structure in mice. J Neurosci. 2001; 15: 3503-3514.
-
(2001)
J Neurosci.
, vol.15
, pp. 3503-3514
-
-
Lu, L.1
Airey, D.C.2
Williams, R.W.3
-
11
-
-
0018707359
-
Hypochondroplasia: Clinical and radiological aspects in 39 cases
-
Hall BD, Spranger J. Hypochondroplasia: Clinical and radiological aspects in 39 cases. Radiology. 1979; 133: 95-100.
-
(1979)
Radiology
, vol.133
, pp. 95-100
-
-
Hall, B.D.1
Spranger, J.2
-
12
-
-
0242609117
-
A central nervous system specific mouse model for thanatophoric dysplasia type II
-
Lin T., Sandusky SB, Xue H., et al. A central nervous system specific mouse model for thanatophoric dysplasia type II. Hum Mol Genet. 2003; 12: 2863-2871.
-
(2003)
Hum Mol Genet.
, vol.12
, pp. 2863-2871
-
-
Lin, T.1
Sandusky, S.B.2
Xue, H.3
|