-
2
-
-
0013769508
-
Achondroplasia in man and animals
-
Maroteaux P, Lamy M. Achondroplasia in man and animals. Clin Orthop 1964;33:91-103.
-
(1964)
Clin Orthop
, vol.33
, pp. 91-103
-
-
Maroteaux, P.1
Lamy, M.2
-
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;56:368-73.
-
(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
-
-
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;371:252-4.
-
(1994)
Nature
, vol.371
, pp. 252-254
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
-
5
-
-
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;78:335-42.
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
-
6
-
-
0028924820
-
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia
-
Stoilov I, Kilpatrick MW, Tsipouras P. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. Am J Med Genet 1995;55:127-33.
-
(1995)
Am J Med Genet
, vol.55
, pp. 127-133
-
-
Stoilov, I.1
Kilpatrick, M.W.2
Tsipouras, P.3
-
7
-
-
0014524569
-
Hypochondroplasia: A report of five kindreds
-
Beals RK. Hypochondroplasia: a report of five kindreds. J Bone Joint Surg [Am] 1969;51-A:728-36.
-
(1969)
J Bone Joint Surg [Am]
, vol.51 A
, pp. 728-736
-
-
Beals, R.K.1
-
8
-
-
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
-
9
-
-
0015107325
-
Hypochondroplasia
-
Walker BA, Murdoch JL, McKusick VA, Langer LO, Beals RK. Hypochondroplasia. Am J Dis Child 1971;122:95-104.
-
(1971)
Am J Dis Child
, vol.122
, pp. 95-104
-
-
Walker, B.A.1
Murdoch, J.L.2
McKusick, V.A.3
Langer, L.O.4
Beals, R.K.5
-
10
-
-
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;10:357-9.
-
(1995)
Nat Genet
, vol.10
, pp. 357-359
-
-
Bellus, G.A.1
McIntosh, I.2
Smith, E.A.3
-
11
-
-
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;4:2097-101.
-
(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
-
12
-
-
0029912958
-
Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
-
Bonaventure J, Rousseau F, Legeai-Mallet L, et al. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. Am J Med Genet 1996;63:148-54.
-
(1996)
Am J Med Genet
, vol.63
, pp. 148-154
-
-
Bonaventure, J.1
Rousseau, F.2
Legeai-Mallet, L.3
-
13
-
-
0029785459
-
Clinical and genetic heterogeneity of hypochondroplasia
-
Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J. Clinical and genetic heterogeneity of hypochondroplasia. J Med Genet 1996;33:749-52.
-
(1996)
J Med Genet
, vol.33
, pp. 749-752
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
Schmidt, H.4
Weissenbach, J.5
-
14
-
-
0031975625
-
Comparison of clinical-radiological and molecular findings in hypochondroplasia
-
Prinster C, Carrera P, Del Maschio M, et al. Comparison of clinical-radiological and molecular findings in hypochondroplasia. Am J Med Genet 1998;75:109-12.
-
(1998)
Am J Med Genet
, vol.75
, pp. 109-112
-
-
Prinster, C.1
Carrera, P.2
Del Maschio, M.3
-
15
-
-
0015594451
-
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes
-
McKusick VA, Kelly TE, Dorst JP. Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. J Med Genet 1973;10:11-6.
-
(1973)
J Med Genet
, vol.10
, pp. 11-16
-
-
McKusick, V.A.1
Kelly, T.E.2
Dorst, J.P.3
-
16
-
-
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. Achondroplasia and hypochondroplasia: comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet 1979;16:140-6.
-
(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
-
17
-
-
0019489479
-
Achondroplasia and hypochondroplasia: Clinical variation and spinal stenosis
-
Wynne-Davies R, Walsh WK, Gormley J. Achondroplasia and hypochondroplasia: clinical variation and spinal stenosis. J Bone Joint Surg [Br] 1981;63-B:508-15.
-
(1981)
J Bone Joint Surg [Br]
, vol.63 B
, pp. 508-515
-
-
Wynne-Davies, R.1
Walsh, W.K.2
Gormley, J.3
-
18
-
-
0004307859
-
A common FGFR3 mutation functions as a diagnostic marker for achondroplasia-group disorders in the Japanese population
-
Matsui Y, Kimura T, Tsumaki N, et al. A common FGFR3 mutation functions as a diagnostic marker for achondroplasia-group disorders in the Japanese population. J Orthop Sci 1996;1:130-5.
-
(1996)
J Orthop Sci
, vol.1
, pp. 130-135
-
-
Matsui, Y.1
Kimura, T.2
Tsumaki, N.3
-
22
-
-
0017162074
-
Skeletal growth and development of the achondroplastic dwarf
-
Nehme AM, Riseborough EJ, Tredwell SJ. Skeletal growth and development of the achondroplastic dwarf. Clin Orthop 1976;116: 8-23.
-
(1976)
Clin Orthop
, vol.116
, pp. 8-23
-
-
Nehme, A.M.1
Riseborough, E.J.2
Tredwell, S.J.3
-
24
-
-
0029928791
-
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
-
Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 1996;12:390-7.
-
(1996)
Nat Genet
, vol.12
, pp. 390-397
-
-
Colvin, J.S.1
Bohne, B.A.2
Harding, G.W.3
McEwen, D.G.4
Ornitz, D.M.5
-
25
-
-
0029917507
-
Fibroblast growth factor receptor 3 is a negative regulator of bone growth
-
Deng C, Wynshaw-Boris A, Zhou F, Kuo A, Leder P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 1996;84:911-21.
-
(1996)
Cell
, vol.84
, pp. 911-921
-
-
Deng, C.1
Wynshaw-Boris, A.2
Zhou, F.3
Kuo, A.4
Leder, P.5
-
26
-
-
0029935895
-
Graded activation of ribroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
-
Naski MC, Wang Q, Xu J, Ornitz DM. Graded activation of ribroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 1996;13:233-7.
-
(1996)
Nat Genet
, vol.13
, pp. 233-237
-
-
Naski, M.C.1
Wang, Q.2
Xu, J.3
Ornitz, D.M.4
-
27
-
-
0030064347
-
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
-
Webster MK, Donoghue DJ. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J 1996;15:520-7.
-
(1996)
EMBO J
, vol.15
, pp. 520-527
-
-
Webster, M.K.1
Donoghue, D.J.2
-
28
-
-
0032570693
-
Regulation of the fibroblast growth factor receptor 3 promoter and intron I enhancer by SP1 family transcription factors
-
McEwen DG, Ornitz DM. Regulation of the fibroblast growth factor receptor 3 promoter and intron I enhancer by SP1 family transcription factors. J Biol Chem 1998;273:5349-57.
-
(1998)
J Biol Chem
, vol.273
, pp. 5349-5357
-
-
McEwen, D.G.1
Ornitz, D.M.2
|