-
1
-
-
0029847596
-
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3
-
Alderborn A, Anvret M, Gustavson KH, Hagenas L, Wadelius C. Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. Acta Paediatr 1996; 85: 1506-7.
-
(1996)
Acta Paediatr
, vol.85
, pp. 1506-1507
-
-
Alderborn, A.1
Anvret, M.2
Gustavson, K.H.3
Hagenas, L.4
Wadelius, C.5
-
2
-
-
0028929738
-
Health supervision for children with achondroplasia
-
American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 1995; 95: 443-51.
-
(1995)
Pediatrics
, vol.95
, pp. 443-451
-
-
-
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
-
5
-
-
0033848117
-
Achondroplasia in diverse Jewish and Arab populations in Israel: Clinical and molecular characterization
-
Falik-Zaccai TC, Shachak E, Abeliovitch D, et al. Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. Isr Med Assoc J 2000; 2: 601-4.
-
(2000)
Isr Med Assoc J
, vol.2
, pp. 601-604
-
-
Falik-Zaccai, T.C.1
Shachak, E.2
Abeliovitch, D.3
-
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, et al. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum Mol Genet 1994; 3: 787-92.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 787-792
-
-
Francomano, C.A.1
Ortiz De Luna, R.I.2
Hefferon, T.W.3
-
7
-
-
0026532369
-
Approach to skeletal dysplasia
-
Hall BD. Approach to skeletal dysplasia. Pediatr Clin North Am 1992; 39: 279-305.
-
(1992)
Pediatr Clin North Am
, vol.39
, pp. 279-305
-
-
Hall, B.D.1
-
8
-
-
0023790661
-
Obesity in achondroplasia
-
Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Obesity in achondroplasia. Am J Med Genet 1988; 31: 597-602.
-
(1988)
Am J Med Genet
, vol.31
, pp. 597-602
-
-
Hecht, J.T.1
Hood, O.J.2
Schwartz, R.J.3
Hennessey, J.C.4
Bernhardt, B.A.5
Horton, W.A.6
-
9
-
-
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): S121-4.
-
(2000)
Endocr J
, vol.47
, Issue.SUPPL.
-
-
Katsumata, N.1
Mikami, S.2
Nagashima-Miyokawa, A.3
-
10
-
-
0028365599
-
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p
-
Le Merrer M, Rousseau F, Legeai-Mallet L, et al. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Nat Genet 1994; 6: 318-21.
-
(1994)
Nat Genet
, vol.6
, pp. 318-321
-
-
Le Merrer, M.1
Rousseau, F.2
Legeai-Mallet, L.3
-
11
-
-
0029929734
-
Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
-
Niu DM, Hsiao KJ, Wang NH, Chin LS, Chen CH. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene. Hum Genet 1996; 98: 65-7.
-
(1996)
Hum Genet
, vol.98
, pp. 65-67
-
-
Niu, D.M.1
Hsiao, K.J.2
Wang, N.H.3
Chin, L.S.4
Chen, C.H.5
-
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. 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
-
13
-
-
0032774475
-
Clinical spectrum of fibroblast growth factor receptor mutations
-
Passos-Bueno MR, Wilcox WR, Jabs EW, Sertie AL, Alonso LG, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 1999; 14: 115-25.
-
(1999)
Hum Mutat
, vol.14
, pp. 115-125
-
-
Passos-Bueno, M.R.1
Wilcox, W.R.2
Jabs, E.W.3
Sertie, A.L.4
Alonso, L.G.5
Kitoh, H.6
-
14
-
-
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
-
15
-
-
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
-
16
-
-
0024347941
-
Hydrocephalus in achondroplasia: The possible role of intracranial venous hypertension
-
Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg 1989; 71: 42-8.
-
(1989)
J Neurosurg
, vol.71
, pp. 42-48
-
-
Steinbok, P.1
Hall, J.2
Flodmark, O.3
-
17
-
-
0020537428
-
Respiratory complications of achondroplasia
-
Stokes DC, Phillips JA, Leonard CO, et al. Respiratory complications of achondroplasia. J Pediatr 1983; 102: 534-41.
-
(1983)
J Pediatr
, vol.102
, pp. 534-541
-
-
Stokes, D.C.1
Phillips, J.A.2
Leonard, C.O.3
-
19
-
-
0030764939
-
Achondroplasia: Recent advances in diagnosis and treatment
-
Tanaka H. Achondroplasia: recent advances in diagnosis and treatment. Acta Paediatr Jpn 1997; 39: 514-20.
-
(1997)
Acta Paediatr Jpn
, vol.39
, pp. 514-520
-
-
Tanaka, H.1
-
20
-
-
0028339047
-
The gene for achondroplasia maps to the telomeric region of chromo-some 4p
-
Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI Jr, Gusella JF, Tsipouras P. The gene for achondroplasia maps to the telomeric region of chromo-some 4p. Nat Genet 1994; 6: 314-7.
-
(1994)
Nat Genet
, vol.6
, pp. 314-317
-
-
Velinov, M.1
Slaugenhaupt, S.A.2
Stoilov, I.3
Scott C.I., Jr.4
Gusella, J.F.5
Tsipouras, P.6
-
21
-
-
0032231407
-
A. 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, et al. A. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998; 63: 711-6.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 711-716
-
-
Wilkin, D.J.1
Szabo, J.K.2
Cameron, R.3
|