-
1
-
-
0028093135
-
Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia
-
Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A 1994 Mutations in the gene encoding fibroblast growth factor receptor 3 in achondroplasia. Nature 371:252-254
-
(1994)
Nature
, vol.371
, pp. 252-254
-
-
Rousseau, F.1
Bonaventure, J.2
Legeai-Mallet, L.3
Pelet, A.4
Rozet, J.M.5
Maroteaux, P.6
Le Merrer, M.7
Munnich, A.8
-
2
-
-
0028890851
-
Achondroplasia is denned by recurrent G380R mutations of FGFR3
-
Bellus G, Hefferon TW, Ortiz de Luna R, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano C 1995 Achondroplasia is denned by recurrent G380R mutations of FGFR3. Am J Hum Genet 56:368-373
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368-373
-
-
Bellus, G.1
Hefferon, T.W.2
Ortiz De Luna, R.3
Hecht, J.T.4
Horton, W.A.5
Machado, M.6
Kaitila, I.7
McIntosh, I.8
Francomano, C.9
-
3
-
-
0030064347
-
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
-
Webster M, Donoghue DJ 1996 Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J 15:520-527
-
(1996)
EMBO J
, vol.15
, pp. 520-527
-
-
Webster, M.1
Donoghue, D.J.2
-
5
-
-
0029149589
-
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients
-
Ikegawa S, Fukushima Y, Isomura M, Takada F, Nakamura Y 1995 Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Hum Genet 96:309-311
-
(1995)
Hum Genet
, vol.96
, pp. 309-311
-
-
Ikegawa, S.1
Fukushima, Y.2
Isomura, M.3
Takada, F.4
Nakamura, Y.5
-
6
-
-
0019489479
-
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis
-
Wynne-Davies R, Walsh WK, Gormley J 1981 Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. J Bone Joint Surg 63:508-515
-
(1981)
J Bone Joint Surg
, vol.63
, pp. 508-515
-
-
Wynne-Davies, R.1
Walsh, W.K.2
Gormley, J.3
-
7
-
-
0017807899
-
Standard growth curves for achondroplasia
-
Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG 1978 Standard growth curves for achondroplasia. J Pediatr 93:435-438
-
(1978)
J Pediatr
, vol.93
, pp. 435-438
-
-
Horton, W.A.1
Rotter, J.I.2
Rimoin, D.L.3
Scott, C.I.4
Hall, J.G.5
-
8
-
-
0028331261
-
Differential effects of insulin-like growth factor I and growth hormone on developmental stages of rat growth plate chondrocytes in vivo
-
Hunziker EB, Wagner J, Zapf J 1994 Differential effects of insulin-like growth factor I and growth hormone on developmental stages of rat growth plate chondrocytes in vivo. J Clin Invest 93:1078-1086
-
(1994)
J Clin Invest
, vol.93
, pp. 1078-1086
-
-
Hunziker, E.B.1
Wagner, J.2
Zapf, J.3
-
9
-
-
0014866015
-
Endochondral ossification in achondroplastic dwarfism
-
Rimoin D, Hughes G, Kawfman RL, Rosenthal RE, McAlister WH, Silberberg R 1970 Endochondral ossification in achondroplastic dwarfism. N Engl J Med 283:728-735
-
(1970)
N Engl J Med
, vol.283
, pp. 728-735
-
-
Rimoin, D.1
Hughes, G.2
Kawfman, R.L.3
Rosenthal, R.E.4
McAlister, W.H.5
Silberberg, R.6
-
11
-
-
0015505342
-
Somatomedin: Proposed designation factor for sulphation factor
-
Daughaday WH, Hall K, Raben MS, Salmon Jr WD, Van den Brande JL, Van Wyk JJ 1972 Somatomedin: proposed designation factor for sulphation factor. Nature 235:107
-
(1972)
Nature
, vol.235
, pp. 107
-
-
Daughaday, W.H.1
Hall, K.2
Raben, M.S.3
Salmon W.D., Jr.4
Van Den Brande, J.L.5
Van Wyk, J.J.6
-
12
-
-
0023446097
-
Mechanism of the stimulatory effect of growth hormone on longitudinal bone growth
-
Isaksson OGP, Lindahl A, Nilsson A, Isgaard J 1987 Mechanism of the stimulatory effect of growth hormone on longitudinal bone growth. Endocrin Rev 8:426-438
-
(1987)
Endocrin Rev
, vol.8
, pp. 426-438
-
-
Isaksson, O.G.P.1
Lindahl, A.2
Nilsson, A.3
Isgaard, J.4
-
13
-
-
0022226562
-
A dual effector theory of growth hormone action
-
Green H, Morikawa M, Nixon T 1985 A dual effector theory of growth hormone action. Differentiation 29:195-198
-
(1985)
Differentiation
, vol.29
, pp. 195-198
-
-
Green, H.1
Morikawa, M.2
Nixon, T.3
-
14
-
-
0026767510
-
Assessment of growth hormone (GH) axis in Turner's syndrome using 24-hour integrated concentrations of GH, insulin-like growth factor-I, plasma GH-binding activity, GH binding to IM 9 cells, and GH response to pharmacological stimulation
-
Zadik Z, Landau H, Chen M, Aitman Y, Lieberman E 1992 Assessment of growth hormone (GH) axis in Turner's syndrome using 24-hour integrated concentrations of GH, insulin-like growth factor-I, plasma GH-binding activity, GH binding to IM 9 cells, and GH response to pharmacological stimulation. J Clin Endocrinol Metab 75:412-416
-
(1992)
J Clin Endocrinol Metab
, vol.75
, pp. 412-416
-
-
Zadik, Z.1
Landau, H.2
Chen, M.3
Aitman, Y.4
Lieberman, E.5
-
15
-
-
0025777981
-
Wider indications for treatment with biosynthetic human growth hormone in children
-
Hindmarsh PC, Bridges NA, Brook CGD 1991 Wider indications for treatment with biosynthetic human growth hormone in children. Clin Endocrinol 34:417-427
-
(1991)
Clin Endocrinol
, vol.34
, pp. 417-427
-
-
Hindmarsh, P.C.1
Bridges, N.A.2
Brook, C.G.D.3
-
16
-
-
0028046065
-
Progress report: Growth hormone in skeletal dysplasia
-
Bridges NA, Brook CGD 1994 Progress report: growth hormone in skeletal dysplasia. Horm Res 42:231-234
-
(1994)
Horm Res
, vol.42
, pp. 231-234
-
-
Bridges, N.A.1
Brook, C.G.D.2
-
17
-
-
0026510663
-
Growth hormone therapy in achondroplasia
-
Horton WA, Hecht JT, Hood OJ, Marshall RN, Moore WV, Hollowell JG 1992 Growth hormone therapy in achondroplasia. Am J Med Genet 42:667-670
-
(1992)
Am J Med Genet
, vol.42
, pp. 667-670
-
-
Horton, W.A.1
Hecht, J.T.2
Hood, O.J.3
Marshall, R.N.4
Moore, W.V.5
Hollowell, J.G.6
-
18
-
-
0027280682
-
Growth hormone therapy in achondroplasia
-
Nishi Y, Kajiyama M, Miyagawa S, Fujiwara M, Hamamoto K 1993 Growth hormone therapy in achondroplasia. Acta Endocrinol 128:394-396
-
(1993)
Acta Endocrinol
, vol.128
, pp. 394-396
-
-
Nishi, Y.1
Kajiyama, M.2
Miyagawa, S.3
Fujiwara, M.4
Hamamoto, K.5
-
19
-
-
0030020454
-
Human growth hormone treatment in prepubertal children with achondroplasia
-
Weber G, Prinster C, Meneghel M, Russo F, Mora S, Puzzovio M, Del Maschio M, Chiumello G 1996 Human growth hormone treatment in prepubertal children with achondroplasia. Am J Med Genet 61:396-400
-
(1996)
Am J Med Genet
, vol.61
, pp. 396-400
-
-
Weber, G.1
Prinster, C.2
Meneghel, M.3
Russo, F.4
Mora, S.5
Puzzovio, M.6
Del Maschio, M.7
Chiumello, G.8
-
20
-
-
0029794956
-
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia
-
Shohat M, Tick D, Barakat S, Bu X, Melmed S, Rimoin DL 1996 Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. J Clin Endocrinol Metab 81:4033-4037
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4033-4037
-
-
Shohat, M.1
Tick, D.2
Barakat, S.3
Bu, X.4
Melmed, S.5
Rimoin, D.L.6
-
21
-
-
0031958433
-
Effect of growth hormone therapy in children with achondroplasia: Growth pattern, hypothalamic-pituitary function, and genotype
-
Tanaka H, Kubo T, Yamate T, Ono T, Kanzaki S, Seino Y 1998 Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. Eur J Endocrinol 138:275-280
-
(1998)
Eur J Endocrinol
, vol.138
, pp. 275-280
-
-
Tanaka, H.1
Kubo, T.2
Yamate, T.3
Ono, T.4
Kanzaki, S.5
Seino, Y.6
-
22
-
-
0018379162
-
Achondroplasia and hypochondroplasia
-
Oberklaid F, Dances DM, Jennies F, Stacie L, Rosshandler S 1979 Achondroplasia and hypochondroplasia. J Med Genet 16:140-146
-
(1979)
J Med Genet
, vol.16
, pp. 140-146
-
-
Oberklaid, F.1
Dances, D.M.2
Jennies, F.3
Stacie, L.4
Rosshandler, S.5
-
23
-
-
0003993074
-
-
Cold Spring Harbour, NY
-
Ehrlich H 1989 PCR Technologies. Cold Spring Harbour, NY, pp 35-36
-
(1989)
PCR Technologies
, pp. 35-36
-
-
Ehrlich, H.1
-
24
-
-
0027964261
-
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
-
Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ 1994 Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335-342
-
(1994)
Cell
, vol.78
, pp. 335-342
-
-
Shiang, R.1
Thompson, L.M.2
Zhu, Y.Z.3
Church, D.M.4
Fielder, T.J.5
Bocian, M.6
Winokur, S.T.7
Wasmuth, J.J.8
-
25
-
-
0013977629
-
Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children. 1966. Part II
-
Tanner JM, Whitehouse RH, Takaishi M 1966 Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children. 1966. Part II. Arch Dis Child 41:613-635
-
(1966)
Arch Dis Child
, vol.41
, pp. 613-635
-
-
Tanner, J.M.1
Whitehouse, R.H.2
Takaishi, M.3
-
26
-
-
0004137087
-
-
Blackwell Scientific Publications, Oxford
-
Tanner JM 1962 Growth at Adolescence. Blackwell Scientific Publications, Oxford
-
(1962)
Growth at Adolescence
-
-
Tanner, J.M.1
-
27
-
-
0029951337
-
Tanner-Whitehouse method of assessing skeletal maturity: Problems and common errors
-
Cox LA 1996 Tanner-Whitehouse method of assessing skeletal maturity: problems and common errors. Horm Res 45(suppl 2):53-55
-
(1996)
Horm Res
, vol.45
, Issue.2 SUPPL.
, pp. 53-55
-
-
Cox, L.A.1
-
28
-
-
84936916896
-
Robust locally weighted regression smoothing scatter plots
-
Cleveland WS 1979 Robust locally weighted regression smoothing scatter plots. J Am Stat Assoc 74:829-836
-
(1979)
J Am Stat Assoc
, vol.74
, pp. 829-836
-
-
Cleveland, W.S.1
-
29
-
-
0031991527
-
Growth hormone therapy of Turner's syndrome: Beneficial effect on adult height
-
Rosenfeld RG, Attie KM, Frane J, Brasel JA, Cara JF, Chernausek S, Gotlin RAW, Chintz J, Lippe BM, Mahoney CP, Moore WV, Saenger P, Johanson AJ 1998 Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr 132:319-324
-
(1998)
J Pediatr
, vol.132
, pp. 319-324
-
-
Rosenfeld, R.G.1
Attie, K.M.2
Frane, J.3
Brasel, J.A.4
Cara, J.F.5
Chernausek, S.6
Gotlin, R.A.W.7
Chintz, J.8
Lippe, B.M.9
Mahoney, C.P.10
Moore, W.V.11
Saenger, P.12
Johanson, A.J.13
-
30
-
-
0001980075
-
Does growth hormone affect adult height in Turner's syndrome?
-
Taback SP, Collu R, Deal CL, Guyda HJ, Salisbury S, Dean HJ 1996 Does growth hormone affect adult height in Turner's syndrome? Lancet 348:25-27
-
(1996)
Lancet
, vol.348
, pp. 25-27
-
-
Taback, S.P.1
Collu, R.2
Deal, C.L.3
Guyda, H.J.4
Salisbury, S.5
Dean, H.J.6
-
31
-
-
0018869999
-
The reproducibility of TW2 skeletal age assessments by a self-taught assessor
-
Breunen G, Cameron N 1980 The reproducibility of TW2 skeletal age assessments by a self-taught assessor. Ann Hum Biol 7:155-162
-
(1980)
Ann Hum Biol
, vol.7
, pp. 155-162
-
-
Breunen, G.1
Cameron, N.2
-
33
-
-
0029000469
-
Cross-sectional stature and weight reference curves for the UK, 1990
-
Freeman JV, Cole TJ, Chinn S, Jones PRM, White EM, Preece MA 1995 Cross-sectional stature and weight reference curves for the UK, 1990. Arch Dis Child 73:17-24
-
(1995)
Arch Dis Child
, vol.73
, pp. 17-24
-
-
Freeman, J.V.1
Cole, T.J.2
Chinn, S.3
Jones, P.R.M.4
White, E.M.5
Preece, M.A.6
-
34
-
-
0025253391
-
Dose-response curves for treatment with biosynthetic human growth hormone
-
Darendeliler F, Hindmarsh PC, Brook CG 1990 Dose-response curves for treatment with biosynthetic human growth hormone. J Endocrinol 125:311-316
-
(1990)
J Endocrinol
, vol.125
, pp. 311-316
-
-
Darendeliler, F.1
Hindmarsh, P.C.2
Brook, C.G.3
|