-
1
-
-
0029864373
-
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
-
Strømme P, Sandboe F. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Acta Ophthalmol Scand 1996;74:45-7.
-
(1996)
Acta Ophthalmol Scand
, vol.74
, pp. 45-47
-
-
Strømme, P.1
Sandboe, F.2
-
2
-
-
0021718938
-
Blepharophimosis and its association with female infertility
-
Jones CA, Collin JRO. Blepharophimosis and its association with female infertility. Br J Ophthalmol 1984;68:533-4.
-
(1984)
Br J Ophthalmol
, vol.68
, pp. 533-534
-
-
Jones, C.A.1
Collin, J.R.O.2
-
3
-
-
0020508397
-
The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
-
Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 1983;35:1020-7.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 1020-1027
-
-
Zlotogora, J.1
Sagi, M.2
Cohen, T.3
-
4
-
-
0006758234
-
Die zurückführung einer reihe erblich-angeborener familiärer augenmißbildungen auf eine fixation normaler fetaler verhältnisse
-
Waardenburg PJ. Die Zurückführung einer Reihe erblich-angeborener familiärer Augenmißbildungen auf eine Fixation normaler fetaler Verhältnisse. Archiv für Ophthalmologie 1930;124:221-9.
-
(1930)
Archiv für Ophthalmologie
, vol.124
, pp. 221-229
-
-
Waardenburg, P.J.1
-
5
-
-
0033118885
-
Closing in on the BPES gene on 3q23: Mapping of a de novo reciprocal translocation t(3;4) (q23;p 15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpoint
-
De Baere E, Van Roy N, Speleman F, Fukushima Y, De Paepe A, Messiaen L. Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4) (q23;p 15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and β'-COP, distal to the breakpoint. Genomics 1999;57:70-8.
-
(1999)
Genomics
, vol.57
, pp. 70-78
-
-
De Baere, E.1
Van Roy, N.2
Speleman, F.3
Fukushima, Y.4
De Paepe, A.5
Messiaen, L.6
-
6
-
-
0029850981
-
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
-
Maw M, Kar B, Biswas J, Biswas P, Nancarrow D, Bridges R, et al. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet 1996;5:2049-54.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 2049-2054
-
-
Maw, M.1
Kar, B.2
Biswas, J.3
Biswas, P.4
Nancarrow, D.5
Bridges, R.6
-
7
-
-
0009634770
-
Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis
-
Johnson CC. Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis. Arch Ophthalmol 1964;71:510-6.
-
(1964)
Arch Ophthalmol
, vol.71
, pp. 510-516
-
-
Johnson, C.C.1
-
8
-
-
0030731451
-
Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality
-
Matsuoka Y, Shibuya Y Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality. Am J Ophthalmol 1997;124:855-6.
-
(1997)
Am J Ophthalmol
, vol.124
, pp. 855-856
-
-
Matsuoka, Y.1
Shibuya, Y.2
-
9
-
-
0031984609
-
Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities
-
Cunniff C, Curtis M, Hassed SJ, Hoyme HE. Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. Am J Med Genet 1998;75:52-4.
-
(1998)
Am J Med Genet
, vol.75
, pp. 52-54
-
-
Cunniff, C.1
Curtis, M.2
Hassed, S.J.3
Hoyme, H.E.4
|