-
1
-
-
0025886884
-
Further evidence for the location of the BPES gene at 3q2. Letter to the editor
-
de Die-Smulders C E, Donk J, Engelen J & Fryns J P (1991): Further evidence for the location of the BPES gene at 3q2. Letter to the editor. J Med Genet 28: 725.
-
(1991)
J Med Genet
, vol.28
, pp. 725
-
-
De Die-Smulders, C.E.1
Donk, J.2
Engelen, J.3
Fryns, J.P.4
-
2
-
-
0141462697
-
Hereditary ptosis
-
Dimitry T J (1921): Hereditary ptosis. Am J Ophthalmol 4: 655-658.
-
(1921)
Am J Ophthalmol
, vol.4
, pp. 655-658
-
-
Dimitry, T.J.1
-
3
-
-
0014633101
-
The ocular function and motility in congenital hlepharophimosis
-
Copenh
-
Edmund J (1969): The ocular function and motility in congenital hlepharophimosis. Acta Ophthalmol (Copenh) 47: 535-548.
-
(1969)
Acta Ophthalmol
, vol.47
, pp. 535-548
-
-
Edmund, J.1
-
4
-
-
0022622017
-
Ptosis with blepharophimosis and epicanthus inversus
-
Elliot D & Wallace A F (1986): Ptosis with blepharophimosis and epicanthus inversus. Br J Plast Surg 39: 244-248.
-
(1986)
Br J Plast Surg
, vol.39
, pp. 244-248
-
-
Elliot, D.1
Wallace, A.F.2
-
5
-
-
0025357994
-
Parental age in the blepharophimosis, ptosis. epicanthus inversus, telecanthus complex
-
Finley W H, Callahan A & Thompson J N (1990): Parental age in the blepharophimosis, ptosis. epicanthus inversus, telecanthus complex. Am J Med Genet 36: 414-417.
-
(1990)
Am J Med Genet
, vol.36
, pp. 414-417
-
-
Finley, W.H.1
Callahan, A.2
Thompson, J.N.3
-
6
-
-
0023002097
-
A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients
-
Fryns J P, Kleczkowska A, Dereymaeker A, Hoefnagels M, Heremans G, Marien J & van der Berghe H (1986): A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients. Clin Genet 30: 315-323.
-
(1986)
Clin Genet
, vol.30
, pp. 315-323
-
-
Fryns, J.P.1
Kleczkowska, A.2
Dereymaeker, A.3
Hoefnagels, M.4
Heremans, G.5
Marien, J.6
Van Der Berghe, H.7
-
7
-
-
0027443190
-
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
-
Fryns J P, Strømme P & van der Berghe H (1993): Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. Clin Genet 44: 149-151.
-
(1993)
Clin Genet
, vol.44
, pp. 149-151
-
-
Fryns, J.P.1
Strømme, P.2
Van Der Berghe, H.3
-
8
-
-
6844247367
-
Blepharophimosis syndrome and de novo balanced autosomal translocation [46,XY,t(3;4) (q23;p15.2)]: Possible localization of the blepharophimosis syndrome to 3q23
-
Fukushima J, Wakui K, Nishida T & Ueoka Y (1990): Blepharophimosis syndrome and de novo balanced autosomal translocation [46,XY,t(3;4) (q23;p15.2)]: possible localization of the blepharophimosis syndrome to 3q23. Am J Hum Genet 47: A29.
-
(1990)
Am J Hum Genet
, vol.47
-
-
Fukushima, J.1
Wakui, K.2
Nishida, T.3
Ueoka, Y.4
-
9
-
-
0009634770
-
Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis
-
Johnson C C (1964): Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis. Arch Ophthalmol 71: 510-516.
-
(1964)
Arch Ophthalmol
, vol.71
, pp. 510-516
-
-
Johnson, C.C.1
-
10
-
-
0021718938
-
Blepharophimosis and its association with female infertility
-
Jones C A & Collins J R O (1984): Blepharophimosis and its association with female infertility. Br J Ophthalmol 68: 533-534.
-
(1984)
Br J Ophthalmol
, vol.68
, pp. 533-534
-
-
Jones, C.A.1
Collins, J.R.O.2
-
11
-
-
9044252934
-
Hereditary bilateral ptosis and blepharophimosis associated with other developmental abnormalities of the outer eye
-
Klein M (1950): Hereditary bilateral ptosis and blepharophimosis associated with other developmental abnormalities of the outer eye. Proc R Soc Med 43: 1025-1026.
-
(1950)
Proc R Soc Med
, vol.43
, pp. 1025-1026
-
-
Klein, M.1
-
12
-
-
0018214437
-
Existence d'une stérilité féminine au cours du syndrome familial ptosis-blépharophimosis-épicanthus
-
Larmande A M, Delplace M P, Moraine C & Devlamynck S (1978): Existence d'une stérilité féminine au cours du syndrome familial ptosis-blépharophimosis-épicanthus. Bull Mem Soc Fr Ophthalmol 9: 257-260.
-
(1978)
Bull Mem Soc Fr Ophthalmol
, vol.9
, pp. 257-260
-
-
Larmande, A.M.1
Delplace, M.P.2
Moraine, C.3
Devlamynck, S.4
-
14
-
-
0027284530
-
Clinical and molecular analyses of deletion 3p25-pter syndrome
-
Mowrey P N. Chorney M J, Venditti C P, Latif F, Lerman M I, Zbar B, Robins D B, Rogan P K & Ladda R L (1993): Clinical and molecular analyses of deletion 3p25-pter syndrome. Am J Med Genet 46: 623-629.
-
(1993)
Am J Med Genet
, vol.46
, pp. 623-629
-
-
Mowrey, P.N.1
Chorney, M.J.2
Venditti, C.P.3
Latif, F.4
Lerman, M.I.5
Zbar, B.6
Robins, D.B.7
Rogan, P.K.8
Ladda, R.L.9
-
15
-
-
0025166530
-
Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3
-
Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y & Kimoto H (1990): Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet 35: 269-273.
-
(1990)
Am J Med Genet
, vol.35
, pp. 269-273
-
-
Narahara, K.1
Kikkawa, K.2
Murakami, M.3
Hiramoto, K.4
Namba, H.5
Tsuji, K.6
Yokoyama, Y.7
Kimoto, H.8
-
16
-
-
0022447212
-
Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
-
Ohdo S, Madokoro 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
Madokoro, H.2
Sonoda, T.3
Hayakawa, K.4
-
17
-
-
0023875626
-
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
-
Oley C & Baraitser M (1988): Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet 25: 47-51.
-
(1988)
J Med Genet
, vol.25
, pp. 47-51
-
-
Oley, C.1
Baraitser, M.2
-
18
-
-
0012975826
-
Hereditary blepharophimosis, ptosis and epicanthus inversus
-
Owens N, Hadley R & Kloepfer H W (1960): Hereditary blepharophimosis, ptosis and epicanthus inversus. J Int Coll Surg 33: 558-574.
-
(1960)
J Int Coll Surg
, vol.33
, pp. 558-574
-
-
Owens, N.1
Hadley, R.2
Kloepfer, H.W.3
-
19
-
-
0042191857
-
Le blepharophimosis compliqué familial. Etude des mebres de la famille Ble
-
Paris
-
Sacrez R, Francfort J, Juif J G & de Grouchy J (1963): Le blepharophimosis compliqué familial. Etude des mebres de la famille Ble. Ann Pediatr (Paris) 39: 493-501.
-
(1963)
Ann Pediatr
, vol.39
, pp. 493-501
-
-
Sacrez, R.1
Francfort, J.2
Juif, J.G.3
De Grouchy, J.4
-
20
-
-
0022916035
-
Contiguous gene syndromes: A component of recognizable syndromes
-
Smickel R D (1986): Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 109: 231-241.
-
(1986)
J Pediatr
, vol.109
, pp. 231-241
-
-
Smickel, R.D.1
-
21
-
-
0024412008
-
Blepharophimosis plus ovarian failure: A likely candidate for a contiguous gene syndrome
-
Smith A, Fraser IS, Shearman R P & Russell P (1989): Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. J Med Genet 26: 434-438.
-
(1989)
J Med Genet
, vol.26
, pp. 434-438
-
-
Smith, A.1
Fraser, I.S.2
Shearman, R.P.3
Russell, P.4
-
22
-
-
0024370323
-
Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
-
Temple IK & Baraitser M (1989): Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). J Med Genet 26: 517-519.
-
(1989)
J Med Genet
, vol.26
, pp. 517-519
-
-
Temple, I.K.1
Baraitser, M.2
-
23
-
-
0018418139
-
Blepharophimosis, ptosis epicanthus inversus and primary amenorrhea
-
Townes P L & Muechler E K (1978): Blepharophimosis, ptosis epicanthus inversus. and primary amenorrhea. Arch Ophthalmol 97: 1664-1666.
-
(1978)
Arch Ophthalmol
, vol.97
, pp. 1664-1666
-
-
Townes, P.L.1
Muechler, E.K.2
-
24
-
-
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 36: 1020-1027.
-
(1983)
Am J Hum Genet
, vol.36
, pp. 1020-1027
-
-
Zlotogora, J.1
Sagi, M.2
Cohen, T.3
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