-
1
-
-
0000003824
-
De l'acrocephalosyndactylie
-
Apert, M. E. De l'acrocephalosyndactylie. Bull. Soc. Med. Hop. Paris 23: 1310, 1906.
-
(1906)
Bull. Soc. Med. Hop. Paris
, vol.23
, pp. 1310
-
-
Apert, M.E.1
-
2
-
-
0029059280
-
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome
-
Park, W. J., Theda, C., Maestri, N. E., et al. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am. J. Hum. Genet. 57: 321, 1995.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 321
-
-
Park, W.J.1
Theda, C.2
Maestri, N.E.3
-
3
-
-
0027427128
-
Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis
-
Cohn, M. S., and Mahon, M. J. Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis. Cutis 52: 205, 1993.
-
(1993)
Cutis
, vol.52
, pp. 205
-
-
Cohn, M.S.1
Mahon, M.J.2
-
4
-
-
0026568156
-
Birth prevalence study of the Apert syndrome
-
Cohen, M. M., Jr., Kreiborg, S., Lammer, E. J., et al. Birth prevalence study of the Apert syndrome. Am. J. Med. Genet. 42: 655, 1992.
-
(1992)
Am. J. Med. Genet.
, vol.42
, pp. 655
-
-
Cohen M.M., Jr.1
Kreiborg, S.2
Lammer, E.J.3
-
5
-
-
0344224717
-
An autopsy case of typical acrocephalosyndactyly (Apert syndrome) with corpus callosum agenesis
-
in Japanese
-
Takahashi, A., Yagawa, K., Takayama, K., et al. An autopsy case of typical acrocephalosyndactyly (Apert syndrome) with corpus callosum agenesis. Jpn. J. Pediatr. 19: 1443, 1966 (in Japanese).
-
(1966)
Jpn. J. Pediatr.
, vol.19
, pp. 1443
-
-
Takahashi, A.1
Yagawa, K.2
Takayama, K.3
-
6
-
-
0018577709
-
Craniostenosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating
-
Cohen, M. M., Jr. Craniostenosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects 15: 13, 1979.
-
(1979)
Birth Defects
, vol.15
, pp. 13
-
-
Cohen M.M., Jr.1
-
7
-
-
0027331381
-
Cytogenetic survey of Apert syndrome
-
Lewanda, A. F., Cohen, M. M., Jr., Hood, J., et al. Cytogenetic survey of Apert syndrome. Am. J. Dis. Child. 147: 1306, 1993.
-
(1993)
Am. J. Dis. Child.
, vol.147
, pp. 1306
-
-
Lewanda, A.F.1
Cohen M.M., Jr.2
Hood, J.3
-
8
-
-
0029983638
-
Exclusive paternal origin of new mutations in Apert syndrome
-
Moloney, D. M., Slaney, S. F., Oldridge, M., et al. Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet. 13: 48, 1996.
-
(1996)
Nature Genet.
, vol.13
, pp. 48
-
-
Moloney, D.M.1
Slaney, S.F.2
Oldridge, M.3
-
9
-
-
0028088073
-
The ins and outs of fibroblast growth factors
-
Mason, I. J. The ins and outs of fibroblast growth factors. Cell 78: 547, 1994.
-
(1994)
Cell
, vol.78
, pp. 547
-
-
Mason, I.J.1
-
10
-
-
0028798546
-
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
-
Wilkie, A. O. M., Slaney, S. F., Oldridge, M., et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 9: 165, 1995.
-
(1995)
Nature Genet.
, vol.9
, pp. 165
-
-
Wilkie, A.O.M.1
Slaney, S.F.2
Oldridge, M.3
-
11
-
-
0029671080
-
FGFR2 exon llla and lllc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNa splicing
-
Meyers, G. A., Day, D., Goldberg, R., et al. FGFR2 exon llla and lllc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am. J. Hum. Genet. 58: 491, 1996.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 491
-
-
Meyers, G.A.1
Day, D.2
Goldberg, R.3
-
12
-
-
0029883637
-
Differential effect of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
-
Slaney, S. F., Oldridge, M., Hurst, J. A., et al. Differential effect of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet. 58: 923, 1996.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 923
-
-
Slaney, S.F.1
Oldridge, M.2
Hurst, J.A.3
-
13
-
-
0345086985
-
A familial instance of Apert syndrome
-
Matsumoto, K., Nakanishi, H., Shono, Y., Urano, Y., and Hirabayashi, S. A familial instance of Apert syndrome. J. Jpn. Soc. Craniomaxillofac. Surg. 13: 8, 1997.
-
(1997)
J. Jpn. Soc. Craniomaxillofac. Surg.
, vol.13
, pp. 8
-
-
Matsumoto, K.1
Nakanishi, H.2
Shono, Y.3
Urano, Y.4
Hirabayashi, S.5
-
14
-
-
1842353216
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
Kunkel, L. M., Smith, K. D., Boyer, S. H., et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc. Natl. Acad. Sci. U.S.A. 74: 1245, 1977.
-
(1977)
Proc. Natl. Acad. Sci. U.S.A.
, vol.74
, pp. 1245
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
-
15
-
-
0025777793
-
Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26
-
Mattei, M.-G., Moreau, A., Gesnel, M.-C., Houssaint, E., and Breathnach, R. Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26. Hum. Genet. 87: 84, 1991.
-
(1991)
Hum. Genet.
, vol.87
, pp. 84
-
-
Mattei, M.-G.1
Moreau, A.2
Gesnel, M.-C.3
Houssaint, E.4
Breathnach, R.5
|