-
1
-
-
0023875626
-
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
-
Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet. 1988;25:47-51.
-
(1988)
J Med Genet
, vol.25
, pp. 47-51
-
-
Oley, C.1
Baraitser, M.2
-
2
-
-
0029029527
-
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
-
Amati P, Chomel JC, Nivelon-Chevalier A, et al. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet. 1995;96:213-215.
-
(1995)
Hum Genet
, vol.96
, pp. 213-215
-
-
Amati, P.1
Chomel, J.C.2
Nivelon-Chevalier, A.3
-
3
-
-
0028926103
-
Blepharophimosis syndrome is linked to chromosome 3q
-
Small KW, Stalvey M, Fisher L, et al. Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet. 1995;4:443-448.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 443-448
-
-
Small, K.W.1
Stalvey, M.2
Fisher, L.3
-
4
-
-
0019497404
-
Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1-q24 in different offspring
-
Williamson RA, Donlan MA, Dolan CR, Thuline HC, Harrison MT, Hall JG. Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1-q24 in different offspring. Am J Med Genet. 1981;9:105-111.
-
(1981)
Am J Med Genet
, vol.9
, pp. 105-111
-
-
Williamson, R.A.1
Donlan, M.A.2
Dolan, C.R.3
Thuline, H.C.4
Harrison, M.T.5
Hall, J.G.6
-
5
-
-
0020579536
-
Interstitial deletion of the long arm of chromosome 3
-
Martsolf JT, Ray M. Interstitial deletion of the long arm of chromosome 3. Ann Genet. 1983;26:98-99.
-
(1983)
Ann Genet
, vol.26
, pp. 98-99
-
-
Martsolf, J.T.1
Ray, M.2
-
6
-
-
0023634915
-
Interstitial deletion of the long arm of chromosome 3: Case report, review and definition of a phenotype
-
Alvarado M, Bocian M, Walker AP. Interstitial deletion of the long arm of chromosome 3: case report, review and definition of a phenotype. Am J Med Genet. 1987;27:781-786.
-
(1987)
Am J Med Genet
, vol.27
, pp. 781-786
-
-
Alvarado, M.1
Bocian, M.2
Walker, A.P.3
-
7
-
-
0026758081
-
Boy with a chromosome deletion (3)(q12q23) and blepharophimosis syndrome
-
Fujita H, Meng J, Kawamura M, Tozuka N, Ishii F, Tanaka N. Boy with a chromosome deletion (3)(q12q23) and blepharophimosis syndrome. Am J Med Genet. 1992;44:434-436.
-
(1992)
Am J Med Genet
, vol.44
, pp. 434-436
-
-
Fujita, H.1
Meng, J.2
Kawamura, M.3
Tozuka, N.4
Ishii, F.5
Tanaka, N.6
-
8
-
-
0027443190
-
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
-
Fryns JP, Stromme P, van den Berghe H. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. Clin Genet. 1993;44:149-151.
-
(1993)
Clin Genet
, vol.44
, pp. 149-151
-
-
Fryns, J.P.1
Stromme, P.2
Van Den Berghe, H.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. 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. 1993;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
-
-
0027429045
-
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): A putative gene responsible for microcephaly close to the BPES gene?
-
Ishikiriyama S, Goto M. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? Am J Med Genet. 1993;47:487-489.
-
(1993)
Am J Med Genet
, vol.47
, pp. 487-489
-
-
Ishikiriyama, S.1
Goto, M.2
-
11
-
-
0028083255
-
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly
-
Ishikiriyama S, Goto M. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly [letter]. Am J Med Genet. 1994;52:245.
-
(1994)
Am J Med Genet
, vol.52
, pp. 245
-
-
Ishikiriyama, S.1
Goto, M.2
-
12
-
-
0027964344
-
Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3) (q21q23))
-
Wolstenholme J, Browm J, Masters KG, Wright C, English CJ. Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3) (q21q23)). J Med Genet. 1994;31:647-648.
-
(1994)
J Med Genet
, vol.31
, pp. 647-648
-
-
Wolstenholme, J.1
Browm, J.2
Masters, K.G.3
Wright, C.4
English, C.J.5
-
13
-
-
0022586801
-
Complex translocation involving chromosomes Y, 1 and 3 resulting in deletion of segment 3q23→q25
-
Al-Awadi SA, Naguib KK, Farag TI, et al. Complex translocation involving chromosomes Y, 1 and 3 resulting in deletion of segment 3q23→q25. J Med Genet. 1986;23:91-92.
-
(1986)
J Med Genet
, vol.23
, pp. 91-92
-
-
Al-Awadi, S.A.1
Naguib, K.K.2
Farag, T.I.3
-
16
-
-
0025734303
-
Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23
-
Fukushima Y, Wakui K, Nishida T, Ueoka Y. Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23. Am J Med Genet. 1991;40:485-487.
-
(1991)
Am J Med Genet
, vol.40
, pp. 485-487
-
-
Fukushima, Y.1
Wakui, K.2
Nishida, T.3
Ueoka, Y.4
-
18
-
-
0028334689
-
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]
-
Boccone L, Meloni A, Falchi AM, Usai V, Cao A. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]. Am J Med Genet. 1994;51:258-259.
-
(1994)
Am J Med Genet
, vol.51
, pp. 258-259
-
-
Boccone, L.1
Meloni, A.2
Falchi, A.M.3
Usai, V.4
Cao, A.5
-
19
-
-
0028912894
-
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay
-
Warburg M, Bugge M, Brøndum-Nielsen K. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet. 1995;32:19-24.
-
(1995)
J Med Genet
, vol.32
, pp. 19-24
-
-
Warburg, M.1
Bugge, M.2
Brøndum-Nielsen, K.3
-
20
-
-
0021153338
-
Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding
-
Ikeuchi T. Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet. 1984;38:56-61.
-
(1984)
Cytogenet Cell Genet
, vol.38
, pp. 56-61
-
-
Ikeuchi, T.1
-
21
-
-
0022916035
-
Contiguous gene syndromes: A component of recognizable syndromes
-
Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr. 1986;109:231-241.
-
(1986)
J Pediatr
, vol.109
, pp. 231-241
-
-
Schmickel, R.D.1
-
22
-
-
0028946924
-
Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p
-
Moncla A, Philip N, Mattei JF. Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p. J Med Genet. 1995;32:245-246.
-
(1995)
J Med Genet
, vol.32
, pp. 245-246
-
-
Moncla, A.1
Philip, N.2
Mattei, J.F.3
-
23
-
-
0027284530
-
Clinical and molecular analysis of deletion 3p25 - pter syndrome
-
Mowrey PN, Chorney MJ, Venditti CP, et al. Clinical and molecular analysis of deletion 3p25 - pter syndrome. Am J Med Genet. 1993;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
-
24
-
-
0029049165
-
Molecular analysis redefines three human chromosome 14 deletions
-
Wintle RF, Costa T, Haslam RHA, Teshima IE, Cox DW. Molecular analysis redefines three human chromosome 14 deletions. Hum Genet. 1995;95:495-500.
-
(1995)
Hum Genet
, vol.95
, pp. 495-500
-
-
Wintle, R.F.1
Costa, T.2
Haslam, R.H.A.3
Teshima, I.E.4
Cox, D.W.5
-
25
-
-
0027947017
-
Digitized and differentially shaded human chromosome ideograms for genomic applications
-
Francke U. Digitized and differentially shaded human chromosome ideograms for genomic applications. Cytogenet Cell Genet. 1994;65:206-219.
-
(1994)
Cytogenet Cell Genet
, vol.65
, pp. 206-219
-
-
Francke, U.1
|