-
1
-
-
58849084644
-
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal
-
Almeida MR, Campos-Xavier AB, Medeira A, et al. Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. Clin Genet, 2009, 75:150-156.
-
(2009)
Clin Genet
, vol.75
, pp. 150-156
-
-
Almeida, M.R.1
Campos-Xavier, A.B.2
Medeira, A.3
-
2
-
-
33751330697
-
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
-
DOI 10.1038/sj.ejhg.5201700, PII 5201700
-
Heuertz S, Le Merrer M, Zabel B, et al. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet, 2006, 14:1240-1247. (Pubitemid 44804029)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.12
, pp. 1240-1247
-
-
Heuertz, S.1
Le, M.M.2
Zabel, B.3
Wright, M.4
Legeai-Mallet, L.5
Cormier-Daire, V.6
Gibbs, L.7
Bonaventure, J.8
-
3
-
-
0032938128
-
A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
-
DOI 10.1093/hmg/8.1.35
-
Li C, Chen L, Iwata T, et al. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. Hum Mol Genet, 1999, 8:35-44. (Pubitemid 29039046)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.1
, pp. 35-44
-
-
Li, C.1
Chen, L.2
Iwata, T.3
Kitagawa, M.4
Fu, X.-Y.5
Deng, C.-X.6
-
4
-
-
0346655234
-
Roles of FGF Receptors in Mammalian Development and Congenital Diseases
-
DOI 10.1002/bdrc.10025
-
Coumoul X, Deng CX. Roles of FGF receptors in mammalian development and congenital diseases. Birth Defects Res C Embryo Today, 2003, 69:286-304. (Pubitemid 38076453)
-
(2003)
Birth Defects Research Part C - Embryo Today: Reviews
, vol.69
, Issue.4
, pp. 286-304
-
-
Coumoul, X.1
Deng, C.-X.2
-
5
-
-
0029785459
-
Clinical and genetic heterogeneityof hypochondroplasia
-
Rousseau F, Bonaventure J, Legeai-Mallet L, et al. Clinical and genetic heterogeneityof hypochondroplasia. J Med Genet, 1996, 33:749-752.
-
(1996)
J Med Genet
, vol.33
, pp. 749-752
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
-
6
-
-
0034011476
-
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia
-
Katsumata N, Mikami S, Nagashima-Miyokawa A, et al. Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. Endocr J, 2000, 47(Suppl):S121-124. (Pubitemid 30243449)
-
(2000)
Endocrine Journal
, vol.47
, Issue.SUPPL.
-
-
Katsumata, N.1
Mikami, S.2
Nagashima-Miyokawa, A.3
Nimura, A.4
Sato, N.5
Horikawa, R.6
Tanae, A.7
Tanaka, T.8
-
7
-
-
0033659625
-
Distinct missense mutations of the FGFR3 Lys 650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia
-
Bellus G, Spector EB, Speiser P, et al. Distinct missense mutations of the FGFR3 Lys 650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia. Am J Hum Genet, 2000, 67:1411-1421.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1411-1421
-
-
Bellus, G.1
Spector, E.B.2
Speiser, P.3
-
8
-
-
0034707489
-
A novel mutation in FGFR3 disrupts a putative N-glycosylation site and results in hypochondroplasia
-
Winterpacht A, Hilbert K, Stelzer C, et al. A novel mutation in FGFR3 disrupts a putative N-glycosylation site and results in hypochondroplasia. Physiol Genomics, 2000, 2:9-12.
-
(2000)
Physiol Genomics
, vol.2
, pp. 9-12
-
-
Winterpacht, A.1
Hilbert, K.2
Stelzer, C.3
|