-
1
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R, Thompson LM, Zhu YZ et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-342
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
-
2
-
-
0028093135
-
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
-
Rousseau F, Bonaventure J, Legeai-Mallet L et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371:252-254
-
(1994)
Nature
, vol.371
, pp. 252-254
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
-
3
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations of FGFR3
-
Bellus GA, Hefferon TW, Ortiz de Luna RI et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995;56:368-373
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368-373
-
-
Bellus, G.A.1
Hefferon, T.W.2
Ortiz de Luna, R.I.3
-
4
-
-
0029935895
-
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
-
Naski MC, Wang Q, Xu J, Ornitz DM. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 1996;13:233-237
-
(1996)
Nat Genet
, vol.13
, pp. 233-237
-
-
Naski, M.C.1
Wang, Q.2
Xu, J.3
Ornitz, D.M.4
-
6
-
-
0012435706
-
A study on the height of children with achondroplasia based on a nationwide survey
-
(In Japanese)
-
Tachibana K, Suwa S, Nishiyama S, Matsuda I. A study on the height of children with achondroplasia based on a nationwide survey. J Pediatr Prac 1997;60:1363-1369 (In Japanese)
-
(1997)
J Pediatr Prac
, vol.60
, pp. 1363-1369
-
-
Tachibana, K.1
Suwa, S.2
Nishiyama, S.3
Matsuda, I.4
-
7
-
-
34248540863
-
Enchondromatosis, Ollier type
-
In: Spranger JW, Brill PW, Poznanski A, eds. 2nd edition. Oxford University Press, Oxford
-
Enchondromatosis, Ollier type. In: Spranger JW, Brill PW, Poznanski A, eds. Bone dysplasias: An atlas of genetic disorders of skeletal development, 2nd edition. Oxford University Press, Oxford; 2002;554-569
-
(2002)
Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development
, pp. 554-569
-
-
-
8
-
-
34248536003
-
Achondroplasa
-
In: Cassidy SB, Allanson JE, eds. 2nd edition. John Wiley & Sons Inc, Hoboken
-
Pauli RM. Achondroplasa. In: Cassidy SB, Allanson JE, eds. Management of genetic syndrome, 2nd edition. John Wiley & Sons Inc, Hoboken; 2005;13-29
-
(2005)
Management of Genetic Syndrome
, pp. 13-29
-
-
Pauli, R.M.1
-
9
-
-
34248511741
-
Ollier's disease
-
In: Wynne-Davies R, Hall CM, Apley AG, eds. Churchill Livingstone, Edinburgh
-
Ollier's disease. In: Wynne-Davies R, Hall CM, Apley AG, eds. Atlas of skeletal dysplasias. Churchill Livingstone, Edinburgh; 1985;533-536
-
(1985)
Atlas of Skeletal Dysplasias
, pp. 533-536
-
-
-
10
-
-
0030896404
-
Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism
-
Su WC, Kitagawa M, Xue N et al. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Nature 1997;386:288-292
-
(1997)
Nature
, vol.386
, pp. 288-292
-
-
Su, W.C.1
Kitagawa, M.2
Xue, N.3
-
11
-
-
0028943780
-
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
-
Schipani E, Kruse K, Juppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995;268:98-100
-
(1995)
Science
, vol.268
, pp. 98-100
-
-
Schipani, E.1
Kruse, K.2
Juppner, H.3
-
12
-
-
0036509934
-
A mutant PTH/PTHrP type I receptor in enchondromatosis
-
Hopyan S, Gokgoz N, Poon R et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nature Genet 2002;30:306-310
-
(2002)
Nature Genet
, vol.30
, pp. 306-310
-
-
Hopyan, S.1
Gokgoz, N.2
Poon, R.3
-
13
-
-
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. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3. Development 1998;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
-
14
-
-
0033567213
-
Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
-
St-Jacques B, Hammerschmidt M, McMahon AP. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev 1999;13:2072-2086
-
(1999)
Genes Dev
, vol.13
, pp. 2072-2086
-
-
St-Jacques, B.1
Hammerschmidt, M.2
McMahon, A.P.3
-
15
-
-
0033974686
-
Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway
-
Murakami S, Kan M, McKeehan WL, de Crombrugghe B. Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway. Proc Natl Acad Sci USA 2000;97:1113-1118
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 1113-1118
-
-
Murakami, S.1
Kan, M.2
McKeehan, W.L.3
de Crombrugghe, B.4
-
16
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
Foster JW, Dominguez-Steglich MA, Guioli S et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994;372:525-530
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
-
17
-
-
0035810951
-
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization
-
Bi W, Huang W, Whitworth DJ et al. Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. Proc Natl Acad Sci USA 2001;98:6698-6703
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 6698-6703
-
-
Bi, W.1
Huang, W.2
Whitworth, D.J.3
-
18
-
-
34248555877
-
The skeletal dysplasias
-
In: Morrissy RT, Weinstein SL, eds. 6th edition. Lippincott Williams and Wilkins, Philadelphia
-
Sponseller PD, Ain AC. The skeletal dysplasias. In: Morrissy RT, Weinstein SL, eds. Lovell and Winter's Pediatric Orthopaedics, 6th edition. Lippincott Williams and Wilkins, Philadelphia; 2006;205-250
-
(2006)
Lovell and Winter's Pediatric Orthopaedics
, pp. 205-250
-
-
Sponseller, P.D.1
Ain, A.C.2
|