-
1
-
-
0024574717
-
Congenital generalized bone dysplasias: A clinical, radiological, and epidemiological survey
-
Andersen PE Jr, Hauge M. 1989. Congenital generalized bone dysplasias: A clinical, radiological, and epidemiological survey. J Med Genet 26:37-44.
-
(1989)
J Med Genet
, vol.26
, pp. 37-44
-
-
Andersen Jr, P.E.1
Hauge, M.2
-
2
-
-
0024201092
-
Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for birth defects
-
Camera G, Mastroiacovo P. 1988. Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for birth defects. Basic Life Sci 48:11.
-
(1988)
Basic Life Sci
, vol.48
, pp. 11
-
-
Camera, G.1
Mastroiacovo, P.2
-
3
-
-
0024475181
-
Hungarian surveillance of germinal mutations. Lack of detectable increase in indicator conditions caused by germinal mutations following the Chernobyl accident
-
Czeizel A. 1989. Hungarian surveillance of germinal mutations. Lack of detectable increase in indicator conditions caused by germinal mutations following the Chernobyl accident. Hum Genet 82:359-366.
-
(1989)
Hum Genet
, vol.82
, pp. 359-366
-
-
Czeizel, A.1
-
4
-
-
17844393110
-
Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia
-
Goriely A, McVean GA, van Pelt AM, O'Rourke AW, Wall SA, de Rooij DG, Wilkie AO. 2005. Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 102:6051-6056.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 6051-6056
-
-
Goriely, A.1
McVean, G.A.2
van Pelt, A.M.3
O'Rourke, A.W.4
Wall, S.A.5
de Rooij, D.G.6
Wilkie, A.O.7
-
5
-
-
0024256944
-
The natural history of achondroplasia
-
Hall JG. 1988. The natural history of achondroplasia. Basic Life Sci 48:3-9.
-
(1988)
Basic Life Sci
, vol.48
, pp. 3-9
-
-
Hall, J.G.1
-
7
-
-
0027394259
-
Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: An international feasibility study
-
Kallen B, Knudsen LB, Mutchinick O, Mastroiacovo P, Lancaster P, Castilla E, Robert E. 1993. Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: An international feasibility study. Int J Epidemiol 22:107-115.
-
(1993)
Int J Epidemiol
, vol.22
, pp. 107-115
-
-
Kallen, B.1
Knudsen, L.B.2
Mutchinick, O.3
Mastroiacovo, P.4
Lancaster, P.5
Castilla, E.6
Robert, E.7
-
8
-
-
51949117782
-
-
Karczeski B, Cutting GR. 2004. Thantophoric dysplasia. Available at GeneReviews, www.genetests.org. Initial posting May 21, 2004.
-
Karczeski B, Cutting GR. 2004. Thantophoric dysplasia. Available at GeneReviews, www.genetests.org. Initial posting May 21, 2004.
-
-
-
-
9
-
-
0034011476
-
Analysis of the FGFR3 Gene in Japanese Patients with Achondroplasia and Hypochrodroplasia
-
Katsumata N, Mikami S, Nagashima-Mikyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T. 2000. Analysis of the FGFR3 Gene in Japanese Patients with Achondroplasia and Hypochrodroplasia. Endocrine J 47:S121-S124.
-
(2000)
Endocrine J
, vol.47
-
-
Katsumata, N.1
Mikami, S.2
Nagashima-Mikyokawa, A.3
Nimura, A.4
Sato, N.5
Horikawa, R.6
Tanae, A.7
Tanaka, T.8
-
10
-
-
0022990118
-
Paternal age and the occurrence of birth defects
-
Lian ZH, Zack MM, Erickson DJ. 1986. Paternal age and the occurrence of birth defects. Am J Hum Genet 39:648-660.
-
(1986)
Am J Hum Genet
, vol.39
, pp. 648-660
-
-
Lian, Z.H.1
Zack, M.M.2
Erickson, D.J.3
-
11
-
-
0034737054
-
Recurrence risk for sibs of children with sporadic achondroplasia
-
Mettler G, Fraser FC. 2000. Recurrence risk for sibs of children with sporadic achondroplasia. Am J Med Genet 90:250-251.
-
(2000)
Am J Med Genet
, vol.90
, pp. 250-251
-
-
Mettler, G.1
Fraser, F.C.2
-
12
-
-
0036281018
-
Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenital achondroplasia patients (Chinese)
-
Ni J, Lu G, Wang W, Chen F, Qin H, Wang D. 2002. Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenital achondroplasia patients (Chinese). Chung-Hua i Hsueh i Chuan Hsueh Tsa Chih 19:205-208.
-
(2002)
Chung-Hua i Hsueh i Chuan Hsueh Tsa Chih
, vol.19
, pp. 205-208
-
-
Ni, J.1
Lu, G.2
Wang, W.3
Chen, F.4
Qin, H.5
Wang, D.6
-
13
-
-
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
-
15
-
-
0038262902
-
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene
-
Pehlivan S, Ozkinay F, Okutman O, Coulu O, Ozcan A, Cankaya T, Ulgenalp A. 2003. Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. Turkish J Pediatr 45:99-101.
-
(2003)
Turkish J Pediatr
, vol.45
, pp. 99-101
-
-
Pehlivan, S.1
Ozkinay, F.2
Okutman, O.3
Coulu, O.4
Ozcan, A.5
Cankaya, T.6
Ulgenalp, A.7
-
16
-
-
0030025758
-
Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis
-
Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB. 1996. Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis. Am J Med Genet 61:49-58.
-
(1996)
Am J Med Genet
, vol.61
, pp. 49-58
-
-
Rasmussen, S.A.1
Bieber, F.R.2
Benacerraf, B.R.3
Lachman, R.S.4
Rimoin, D.L.5
Holmes, L.B.6
-
17
-
-
0020430885
-
A reexamination on parental age effect on the occurrence of new mutations for achondroplasia
-
Stoll C, Roth MP, Bigel P. 1982. A reexamination on parental age effect on the occurrence of new mutations for achondroplasia. Prog Clin Biol Res 104:419-426.
-
(1982)
Prog Clin Biol Res
, vol.104
, pp. 419-426
-
-
Stoll, C.1
Roth, M.P.2
Bigel, P.3
-
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. Endocrine Rev 21:23-39.
-
(2000)
Endocrine Rev
, vol.21
, pp. 23-39
-
-
Vajo, Z.1
Francomano, C.A.2
Wilkin, D.J.3
-
20
-
-
0033662891
-
Frequency of prenatal diagnosis of birth defects in Houston, Galveston and the Lower Rio Grande Valley of Texas, 1995
-
Waller DK, Pujazon MA, Canfield MA, Scheurele AE, Byrne JLB. 2000. Frequency of prenatal diagnosis of birth defects in Houston, Galveston and the Lower Rio Grande Valley of Texas, 1995. Fetal Diagn Therapy 15:348-354.
-
(2000)
Fetal Diagn Therapy
, vol.15
, pp. 348-354
-
-
Waller, D.K.1
Pujazon, M.A.2
Canfield, M.A.3
Scheurele, A.E.4
Byrne, J.L.B.5
-
21
-
-
0032231407
-
Mutations in fibroblast growth-factor 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, Katila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. 1998. Mutations in fibroblast growth-factor 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
Katila, I.7
Loughlin, J.8
Munnich, A.9
Sykes, B.10
Bonaventure, J.11
Francomano, C.A.12
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