-
1
-
-
0035041312
-
Ocular and clinical manifestations of Moebius' syndrome
-
Cronemberger MF, de Castro Moreira JB, Brunoni D, Mendonca TS, Alvarenga EH, Rizzo AM, Diogo SM. Ocular and clinical manifestations of Moebius' syndrome. J Pediatr Ophthalmol Strabismus. 2001;38:156-162.
-
(2001)
J Pediatr Ophthalmol Strabismus
, vol.38
, pp. 156-162
-
-
Cronemberger, M.F.1
De Castro Moreira, J.B.2
Brunoni, D.3
Mendonca, T.S.4
Alvarenga, E.H.5
Rizzo, A.M.6
Diogo, S.M.7
-
2
-
-
0029658309
-
Localization of a gene for Moebius syndrome to chromosome 3q by linkage analysis in a Dutch family
-
Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JA, Hamel BC, Jansen C, Mariman EC, Frants RR, Padberg GW. Localization of a gene for Moebius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Mol Genet. 1996;5:1367-1371.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1367-1371
-
-
Kremer, H.1
Kuyt, L.P.2
Van Den Helm, B.3
Van Reen, M.4
Leunissen, J.A.5
Hamel, B.C.6
Jansen, C.7
Mariman, E.C.8
Frants, R.R.9
Padberg, G.W.10
-
4
-
-
0030610414
-
Moebius-like syndrome associated with a 1;2 chromosome translocation
-
Nishikawa M, Ichiyama T, Hayashi T, Furukawa S. Moebius-like syndrome associated with a 1;2 chromosome translocation. Clin Genet. 1997;51:122-123.
-
(1997)
Clin Genet
, vol.51
, pp. 122-123
-
-
Nishikawa, M.1
Ichiyama, T.2
Hayashi, T.3
Furukawa, S.4
-
5
-
-
0034031593
-
SOX 14 is a candidate gene for limb defects associated with BPES and Moebius syndrome
-
Wilmore HP, Smith MJ, Wilcox SA, Bell KM, Sinclair AH. SOX 14 is a candidate gene for limb defects associated with BPES and Moebius syndrome. Hum Genet. 2000;106:269-276.
-
(2000)
Hum Genet
, vol.106
, pp. 269-276
-
-
Wilmore, H.P.1
Smith, M.J.2
Wilcox, S.A.3
Bell, K.M.4
Sinclair, A.H.5
-
6
-
-
33645101712
-
-
Ethylin Wang Jabs Laboratory, John Hopkins Hospital, Baltimore, MD, USA. http://www.genetests.org
-
-
-
-
7
-
-
0035101635
-
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome
-
Borck G, Wirth J, Hardt T, Tonnies H, Brondum-Nielson K, Bugge M, Tommerup N, Nothwang H-G, Ropers H-H, Haaf T. Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome. J Med Genet. 2001;38:117-120.
-
(2001)
J Med Genet
, vol.38
, pp. 117-120
-
-
Borck, G.1
Wirth, J.2
Hardt, T.3
Tonnies, H.4
Brondum-Nielson, K.5
Bugge, M.6
Tommerup, N.7
Nothwang, H.-G.8
Ropers, H.-H.9
Haaf, T.10
-
8
-
-
0031595880
-
Ophthalmic manifestations of trisomy 8 mosaic syndrome
-
Anwar S, Bradshaw K, Vivian AJ. Ophthalmic manifestations of trisomy 8 mosaic syndrome. Ophthalmic Genet. 1998;19:81-86.
-
(1998)
Ophthalmic Genet
, vol.19
, pp. 81-86
-
-
Anwar, S.1
Bradshaw, K.2
Vivian, A.J.3
-
9
-
-
13144306056
-
Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: Implications for mapping and cloning of a Duane gene
-
Calabrese G, Stuppia L, Morizio E, Franchi PG, Pompetti F, Mingarelli R, Marsilio T, Rocchi M, Gallenga PE, Palka G, Dallapicolla B. Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning of a Duane gene. Eur J Hum Genet. 1998;6:187-193.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 187-193
-
-
Calabrese, G.1
Stuppia, L.2
Morizio, E.3
Franchi, P.G.4
Pompetti, F.5
Mingarelli, R.6
Marsilio, T.7
Rocchi, M.8
Gallenga, P.E.9
Palka, G.10
Dallapicolla, B.11
-
10
-
-
0036892948
-
The ophthalmic findings in Cohen syndrome
-
Chandler KE, Biswas S, Lloyd IC, Parry N, Clayton-Smith J, Black GC. The ophthalmic findings in Cohen syndrome. Br J Ophthalmol. 2002;86:1395-1398.
-
(2002)
Br J Ophthalmol
, vol.86
, pp. 1395-1398
-
-
Chandler, K.E.1
Biswas, S.2
Lloyd, I.C.3
Parry, N.4
Clayton-Smith, J.5
Black, G.C.6
-
11
-
-
12344300652
-
Congenital abnormalities of cranial nerve development: Overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements
-
Traboulsi EL. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Trans Am Ophthalmol Soc. 2004;102:373-389.
-
(2004)
Trans Am Ophthalmol Soc
, vol.102
, pp. 373-389
-
-
Traboulsi, E.L.1
|