-
1
-
-
0029029527
-
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
-
Amati P, Chomel JC, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D (1995): A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet 96:213-215.
-
(1995)
Hum Genet
, vol.96
, pp. 213-215
-
-
Amati, P.1
Chomel, J.C.2
Nivelon-Chevalier, A.3
Gilgenkrantz, S.4
Kitzis, A.5
Kaplan, J.6
Bonneau, D.7
-
2
-
-
0026018854
-
The Ohdo blepharophimosis syndrome: A third case
-
Biesecker LG (1991): The Ohdo blepharophimosis syndrome: A third case. J Med Genet 28:131-134.
-
(1991)
J Med Genet
, vol.28
, pp. 131-134
-
-
Biesecker, L.G.1
-
4
-
-
0028231440
-
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth
-
Clayton-Smith J, Krajewska-Walasek MK, Fryer A, Donnai D (1994): Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clin Dysmorphol 3:15-20.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 15-20
-
-
Clayton-Smith, J.1
Krajewska-Walasek, M.K.2
Fryer, A.3
Donnai, D.4
-
5
-
-
85005027702
-
Familial low birth weight dwarfism with an unusual facies and a skin eruption
-
Dubowitz V (1965): Familial low birth weight dwarfism with an unusual facies and a skin eruption. J Med Genet 2:12-17.
-
(1965)
J Med Genet
, vol.2
, pp. 12-17
-
-
Dubowitz, V.1
-
6
-
-
0023790695
-
An association among blepharophimosis, resistant ovary syndrome, and true premature menopause
-
Fraser IS, Shearman RP, Smith A, Russell P (1988): An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil Steril 50:747-751.
-
(1988)
Fertil Steril
, vol.50
, pp. 747-751
-
-
Fraser, I.S.1
Shearman, R.P.2
Smith, A.3
Russell, P.4
-
7
-
-
84906418771
-
Craniocarpotarsal dystrophy: An undescribed congenital malformation
-
Freeman EA, Sheldon JH (1938): Craniocarpotarsal dystrophy: An undescribed congenital malformation. Arch Dis Child 13:277-283.
-
(1938)
Arch Dis Child
, vol.13
, pp. 277-283
-
-
Freeman, E.A.1
Sheldon, J.H.2
-
8
-
-
0029091076
-
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
-
Harrar HS, Jeffery S, Patton MA (1995): Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet 32:774-777.
-
(1995)
J Med Genet
, vol.32
, pp. 774-777
-
-
Harrar, H.S.1
Jeffery, S.2
Patton, M.A.3
-
9
-
-
0027485381
-
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
-
Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenati MJ (1993): Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23. Am J Med Genet 47:1147-1150.
-
(1993)
Am J Med Genet
, vol.47
, pp. 1147-1150
-
-
Jewett, T.1
Rao, P.N.2
Weaver, R.G.3
Stewart, W.4
Thomas, I.T.5
Pettenati, M.J.6
-
10
-
-
0029034110
-
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosome anomalies
-
Lawson CT, Toomes C, Fryer A, Carette MJ, Taylor GM, Fukushima Y, Dixon MJ (1995): Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosome anomalies. Hum Mol Genet 4:963-967.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 963-967
-
-
Lawson, C.T.1
Toomes, C.2
Fryer, A.3
Carette, M.J.4
Taylor, G.M.5
Fukushima, Y.6
Dixon, M.J.7
-
11
-
-
0013951887
-
A new generalized connective tissue syndrome
-
Marden PM, Walker WA (1966): A new generalized connective tissue syndrome. Am J Dis Child 112:225-228.
-
(1966)
Am J Dis Child
, vol.112
, pp. 225-228
-
-
Marden, P.M.1
Walker, W.A.2
-
12
-
-
0028327604
-
Blepharophimosis, ptosis and mental retardation: Further delineation of Ohdo syndrome
-
Melnyk AR (1994): Blepharophimosis, ptosis and mental retardation: Further delineation of Ohdo syndrome. Clin Dysmorphol 3:121-124.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 121-124
-
-
Melnyk, A.R.1
-
13
-
-
0022447212
-
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
-
Ohdo S, Madakoro H, Sonoda T, Hayakawa K (1986): Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet 23:242-244.
-
(1986)
J Med Genet
, vol.23
, pp. 242-244
-
-
Ohdo, S.1
Madakoro, H.2
Sonoda, T.3
Hayakawa, K.4
-
14
-
-
0023390252
-
Mental retardation with blepharophimosis
-
Say B, Barber N (1987): Mental retardation with blepharophimosis. J Med Genet 24:511.
-
(1987)
J Med Genet
, vol.24
, pp. 511
-
-
Say, B.1
Barber, N.2
-
15
-
-
33749732158
-
Über ein neues kombinationsbild multipler abartungen
-
Schönenberg H (1954): Über ein neues kombinationsbild multipler abartungen. Ann Paediatr 182:229-240.
-
(1954)
Ann Paediatr
, vol.182
, pp. 229-240
-
-
Schönenberg, H.1
-
16
-
-
13344257514
-
Congenital blepharophimosis associated with a unique generalized myopathy
-
Schwartz O, Jampel RS (1962): Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 68:52-57.
-
(1962)
Arch Ophthalmol
, vol.68
, pp. 52-57
-
-
Schwartz, O.1
Jampel, R.S.2
-
17
-
-
0028926103
-
Blepharophimosis syndrome is linked to chromosome 3q
-
Small KW, Stalvey M, Fisher L, Mulles L, Dickel C, Beadles K, Reimer R, Lessner A, Lewis K, Pericak-Vance MA (1995): Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet 4:443-448.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 443-448
-
-
Small, K.W.1
Stalvey, M.2
Fisher, L.3
Mulles, L.4
Dickel, C.5
Beadles, K.6
Reimer, R.7
Lessner, A.8
Lewis, K.9
Pericak-Vance, M.A.10
-
18
-
-
0020508397
-
The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
-
Zlotogora J, Sagi M, Cohen T (1983): The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet 35:1020-1027.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 1020-1027
-
-
Zlotogora, J.1
Sagi, M.2
Cohen, T.3
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