-
1
-
-
0003068449
-
The genetics of strabismus: Duane, Mobius, and fibrosis syndromes
-
E.I. Traboulsi. New York: Oxford University Press
-
Engle E.C. The genetics of strabismus Duane, Mobius, and fibrosis syndromes . Traboulsi E.I. Genetic diseases of the eye. 1999;477-512 Oxford University Press, New York.
-
(1999)
Genetic diseases of the eye
, pp. 477-512
-
-
Engle, E.C.1
-
2
-
-
0036234298
-
Applications of molecular genetics to the understanding of congenital ocular motility disorders
-
Engle E.C. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann N Y Acad Sci. 956:2002;55-63.
-
(2002)
Ann N Y Acad Sci
, vol.956
, pp. 55-63
-
-
Engle, E.C.1
-
3
-
-
0028168147
-
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
-
Engle E.C., Kunkel L.M., Specht L.A., Beggs A.H. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 7:1994;69-73.
-
(1994)
Nat Genet
, vol.7
, pp. 69-73
-
-
Engle, E.C.1
Kunkel, L.M.2
Specht, L.A.3
Beggs, A.H.4
-
4
-
-
0028784357
-
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement, and physical mapping on chromosome 12
-
Engle E.C., Marondel I., Houtman W.A., et al. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia) genetic homogeneity, linkage refinement, and physical mapping on chromosome 12 . Am J Hum Genet. 57:1995;1086-1094.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1086-1094
-
-
Engle, E.C.1
Marondel, I.2
Houtman, W.A.3
-
6
-
-
18744378900
-
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is generally heterogeneous but does not result from mutations in ARIX
-
Engle E.C., McIntosh N., Yamada K., et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is generally heterogeneous but does not result from mutations in ARIX. BMC Genet. 3:2002;3.
-
(2002)
BMC Genet
, vol.3
, pp. 3
-
-
Engle, E.C.1
McIntosh, N.2
Yamada, K.3
-
7
-
-
0032991253
-
CFEOM3: A new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3
-
Doherty E., Macy M., Wang S., et al. CFEOM3 a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3 . Inv Ophthalmol Vis Sci. 40:1999;1687-1694.
-
(1999)
Inv Ophthalmol Vis Sci
, vol.40
, pp. 1687-1694
-
-
Doherty, E.1
Macy, M.2
Wang, S.3
-
8
-
-
0031058836
-
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
-
Engle E.C., Goumernov B., McKeown C.A., et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 41:1997;314-325.
-
(1997)
Ann Neurol
, vol.41
, pp. 314-325
-
-
Engle, E.C.1
Goumernov, B.2
McKeown, C.A.3
-
9
-
-
0032231607
-
Congenital fibrosis of the extraocular muscles type 2 (CFEOM2), an inherited exotropic strabismus fixus, maps to distal 11q13
-
Wang S., Zwaan J., Mullaney P., et al. Congenital fibrosis of the extraocular muscles type 2 (CFEOM2), an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 63:1998;517-525.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 517-525
-
-
Wang, S.1
Zwaan, J.2
Mullaney, P.3
-
10
-
-
0034085924
-
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles
-
Traboulsi E.I., Lee B.A., Mousawi A., Khamis A.R., Engle E.C. Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. Am J Ophthalmol. 129:2000;658-662.
-
(2000)
Am J Ophthalmol
, vol.129
, pp. 658-662
-
-
Traboulsi, E.I.1
Lee, B.A.2
Mousawi, A.3
Khamis, A.R.4
Engle, E.C.5
-
11
-
-
0035179560
-
Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
-
Nakano M., Yamada K., Fain J., et al. Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 29:2001;315-320.
-
(2001)
Nat Genet
, vol.29
, pp. 315-320
-
-
Nakano, M.1
Yamada, K.2
Fain, J.3
-
12
-
-
0030936255
-
Defects in sensory and autonomic ganglia and absence of locus coeruleus in mice deficient for the homeobox gene Phox2a
-
Morin X., Cremer H., Hirsch M.R., Kapur R.P., Goridis C., Brunet J.F. Defects in sensory and autonomic ganglia and absence of locus coeruleus in mice deficient for the homeobox gene Phox2a. Neuron. 18:1997;411-423.
-
(1997)
Neuron
, vol.18
, pp. 411-423
-
-
Morin, X.1
Cremer, H.2
Hirsch, M.R.3
Kapur, R.P.4
Goridis, C.5
Brunet, J.F.6
-
13
-
-
0030731439
-
Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis
-
Pattyn A., Morin X., Cremer H., Goridis C., Brunet J.F. Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development. 124:1997;4065-4075.
-
(1997)
Development
, vol.124
, pp. 4065-4075
-
-
Pattyn, A.1
Morin, X.2
Cremer, H.3
Goridis, C.4
Brunet, J.F.5
-
14
-
-
0033231292
-
Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a
-
Guo S., Brush J., Teraoka H., et al. Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron. 24:1999;555-566.
-
(1999)
Neuron
, vol.24
, pp. 555-566
-
-
Guo, S.1
Brush, J.2
Teraoka, H.3
-
15
-
-
0037151035
-
The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status
-
Adachi M., Lewis E.J. The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status. J Biol Chem. 277:2002;22915-22924.
-
(2002)
J Biol Chem
, vol.277
, pp. 22915-22924
-
-
Adachi, M.1
Lewis, E.J.2
-
16
-
-
0008959119
-
Congenital fibrosis of the extraocular muscles: Report of 24 cases illustrating the clinical spectrum and surgical management
-
Traboulsi E.I., Jaafar M., Kattan H., Parks M.M. Congenital fibrosis of the extraocular muscles report of 24 cases illustrating the clinical spectrum and surgical management . Am Orthopt J. 43:1993;45-53.
-
(1993)
Am Orthopt J
, vol.43
, pp. 45-53
-
-
Traboulsi, E.I.1
Jaafar, M.2
Kattan, H.3
Parks, M.M.4
|