-
1
-
-
0028929738
-
Health supervision for children with achondroplasia
-
American Academy of Pediatrics Committee on Genetics. 1995. Health supervision for children with achondroplasia. Pediatrics 95:443-451.
-
(1995)
Pediatrics
, vol.95
, pp. 443-451
-
-
-
2
-
-
0021775763
-
A morphometric analysis of the craniofacial configuration in achondroplasia
-
Cohen MM Jr, Walker GF, Phillips C. 1985. A morphometric analysis of the craniofacial configuration in achondroplasia. J Craniofac Genet Dev Biol 1(Suppl):139-165.
-
(1985)
J Craniofac Genet Dev Biol
, vol.1
, Issue.SUPPL.
, pp. 139-165
-
-
Cohen Jr., M.M.1
Walker, G.F.2
Phillips, C.3
-
3
-
-
0029917507
-
Fibroblast growth factor receptor 3 is a negative regulator of bone growth
-
Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P. 1996. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 84:911-921.
-
(1996)
Cell
, vol.84
, pp. 911-921
-
-
Deng, C.1
Wynshaw-Boris, A.2
Zhou, F.3
Kuo, A.4
Leder, P.5
-
4
-
-
33645018120
-
Cephalometric changes in tail-suspended mice and the effect of a skeletal muscle transgene
-
Duke PJ, Montufar-Solis D, Williams N, Kriswell D. 1996. Cephalometric changes in tail-suspended mice and the effect of a skeletal muscle transgene. Grav Space Biol Bull 10:58.
-
(1996)
Grav Space Biol Bull
, vol.10
, pp. 58
-
-
Duke, P.J.1
Montufar-Solis, D.2
Williams, N.3
Kriswell, D.4
-
5
-
-
0021782233
-
Effect of local irradiation on cranial skeletal growth sites in the rat
-
Engstrom H, Engstrom C, Hollender L, Magnusson BC, Thilander A. 1985. Effect of local irradiation on cranial skeletal growth sites in the rat. Prog Clin Biol Res 187:109-124.
-
(1985)
Prog Clin Biol Res
, vol.187
, pp. 109-124
-
-
Engstrom, H.1
Engstrom, C.2
Hollender, L.3
Magnusson, B.C.4
Thilander, A.5
-
6
-
-
0028300064
-
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p
-
Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al. 1994. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum Mol Genet 3:787-792.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 787-792
-
-
Francomano, C.A.1
Ortiz De Luna, R.I.2
Hefferon, T.W.3
Bellus, G.A.4
Turner, C.E.5
Taylor, E.6
Meyers, D.A.7
Blanton, S.H.8
Murray, J.C.9
McIntosh, I.10
-
7
-
-
0024328884
-
Growth of the foramen magnum in achondroplasia
-
Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R. 1989. Growth of the foramen magnum in achondroplasia. Am J Med Genet 32:528-535.
-
(1989)
Am J Med Genet
, vol.32
, pp. 528-535
-
-
Hecht, J.T.1
Horton, W.A.2
Reid, C.S.3
Pyeritz, R.E.4
Chakraborty, R.5
-
8
-
-
0031819322
-
Medical complications of achondroplasia: A multicentre patient review
-
Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. 1998. Medical complications of achondroplasia: a multicentre patient review. J Med Genet 35:705-712.
-
(1998)
J Med Genet
, vol.35
, pp. 705-712
-
-
Hunter, A.G.1
Bankier, A.2
Rogers, J.G.3
Sillence, D.4
Scott Jr., C.I.5
-
9
-
-
0020028013
-
The clinical spectrum of lumbar spine disease in achondroplasia
-
Kahanovitz N, Rimoin D, Sillence D. 1982. The clinical spectrum of lumbar spine disease in achondroplasia. Spine 7:137-140.
-
(1982)
Spine
, vol.7
, pp. 137-140
-
-
Kahanovitz, N.1
Rimoin, D.2
Sillence, D.3
-
10
-
-
1042289662
-
Constitutive activation of MEK1 in chondrocytes causes a Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient Mice
-
Murakami S, Balmes G, McKinney S, Zhang Z, Givol D, de Crombrugghe B. 2004. Constitutive activation of MEK1 in chondrocytes causes a Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient Mice. Genes Dev 18:290-305.
-
(2004)
Genes Dev
, vol.18
, pp. 290-305
-
-
Murakami, S.1
Balmes, G.2
McKinney, S.3
Zhang, Z.4
Givol, D.5
De Crombrugghe, B.6
-
11
-
-
0032413011
-
Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3
-
Naski MC, Colvin JS, Coffin JD, Ornitz DM. 1998. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development 125:4977-4988.
-
(1998)
Development
, vol.125
, pp. 4977-4988
-
-
Naski, M.C.1
Colvin, J.S.2
Coffin, J.D.3
Ornitz, D.M.4
-
12
-
-
0018379162
-
Achondroplasia and hypochondroplasia: Comments on frequency, mutation rate, and radiological features in skull and spine
-
Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S. 1979. Achondroplasia and hypochondroplasia: comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet 16:140-146.
-
(1979)
J Med Genet
, vol.16
, pp. 140-146
-
-
Oberklaid, F.1
Danks, D.M.2
Jensen, F.3
Stace, L.4
Rosshandler, S.5
-
13
-
-
0021362896
-
Apnea and sudden unexplained death in infants with achondroplasia
-
Pauli RM, Scott CI, Wassman ER, Gilbert EF, Leavitt LA, Ver Hoeve J, Hall JG, Partington MW, Jones KL, Sommer A, et al. 1984. Apnea and sudden unexplained death in infants with achondroplasia. J Pediatr 104:342-348.
-
(1984)
J Pediatr
, vol.104
, pp. 342-348
-
-
Pauli, R.M.1
Scott, C.I.2
Wassman, E.R.3
Gilbert, E.F.4
Leavitt, L.A.5
Ver Hoeve, J.6
Hall, J.G.7
Partington, M.W.8
Jones, K.L.9
Sommer, A.10
-
14
-
-
0033151612
-
FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway
-
Sahni M, Ambrosetti DC, Mansukhani A, Gertner R, Levy D, Basilico C. 1999. FGF signaling inhibits chondrocyte proliferation and regulates bone development through the STAT-1 pathway. Genes Dev 13:1361-1366.
-
(1999)
Genes Dev
, vol.13
, pp. 1361-1366
-
-
Sahni, M.1
Ambrosetti, D.C.2
Mansukhani, A.3
Gertner, R.4
Levy, D.5
Basilico, C.6
-
16
-
-
0033970893
-
Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3(G380R) transgenic mice
-
Segev O, Chumakov I, Nevo Z, Givol D, Madar-Shapiro L, Sheinin Y, Weinreb M, Yayon A. 2000. Restrained chondrocyte proliferation and maturation with abnormal growth plate vascularization and ossification in human FGFR-3(G380R) transgenic mice. Hum Mol Genet 9:249-258.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 249-258
-
-
Segev, O.1
Chumakov, I.2
Nevo, Z.3
Givol, D.4
Madar-Shapiro, L.5
Sheinin, Y.6
Weinreb, M.7
Yayon, A.8
-
17
-
-
0024221225
-
Bone dysplasia "families"
-
Spranger J. 1988. Bone dysplasia "families." Pathol Immunopathol R 7:76-80.
-
(1988)
Pathol Immunopathol R
, vol.7
, pp. 76-80
-
-
Spranger, J.1
-
18
-
-
0030896404
-
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
-
Su WC, Kitagawa M, Xue N, Xie B, Garofalo S, Cho J, Deng C, Horten WA, Fu XY. 1997. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature 386:288-292.
-
(1997)
Nature
, vol.386
, pp. 288-292
-
-
Su, W.C.1
Kitagawa, M.2
Xue, N.3
Xie, B.4
Garofalo, S.5
Cho, J.6
Deng, C.7
Horten, W.A.8
Fu, X.Y.9
-
19
-
-
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
-
21
-
-
13044278311
-
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3
-
Wang Y, Spatz MK, Kannan K, Hayk H, Avivi A, Gorivodsky M, Pines M, Yayon A, Lonai P, Givol D. 1999. A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Proc Natl Acad Sci USA 96:4455-4460.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 4455-4460
-
-
Wang, Y.1
Spatz, M.K.2
Kannan, K.3
Hayk, H.4
Avivi, A.5
Gorivodsky, M.6
Pines, M.7
Yayon, A.8
Lonai, P.9
Givol, D.10
-
22
-
-
0032231407
-
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
-
Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. 1998. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 63:711-716.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 711-716
-
-
Wilkin, D.J.1
Szabo, J.K.2
Cameron, R.3
Henderson, S.4
Bellus, G.A.5
Mack, M.L.6
Kaitila, I.7
Loughlin, J.8
Munnich, A.9
Sykes, B.10
Bonaventure, J.11
Francomano, C.A.12
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