-
1
-
-
0023875626
-
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
-
Oley, C. and 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
-
2
-
-
0020508397
-
The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
-
Zlotogora, J., Sagi, M. and 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
-
3
-
-
0025734303
-
Blepharophimosis sequence and de novo balanced autosomal translocation[46, XY, t(3;4)(q23p15.2)]: Possible assignment of the trait to 3q23
-
Fukushima, Y., Wakui, K., Nishida, T. and Ueoka, Y. (1991) Blepharophimosis sequence and de novo balanced autosomal translocation[46, XY, t(3;4)(q23p15.2)]: Possible assignment of the trait to 3q23. Am. J. Med. Genet., 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
-
4
-
-
0027443190
-
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
-
Fryns, J. P., Stromme, P. and Berghe, H. V. (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
Stromme, P.2
Berghe, H.V.3
-
5
-
-
0028926103
-
Blepharophimosis syndrome is linked to chromosome 3q
-
Small, K. W., Stalvey, M. L., Fisher, L. et al. (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.L.2
Fisher, L.3
-
6
-
-
0029864808
-
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22- q23
-
Amati, P., Gasparini, P., Zlotogora, J., Zelante, L., Chomel, J. C., Kitzis, A., Kaplan, J. and Bonneau, D. (1996) A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22- q23. Am. J. Hum. Genet., 58, 1089-1092.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1089-1092
-
-
Amati, P.1
Gasparini, P.2
Zlotogora, J.3
Zelante, L.4
Chomel, J.C.5
Kitzis, A.6
Kaplan, J.7
Bonneau, D.8
-
7
-
-
0034176655
-
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
-
Praphanphoj, V., Goodman, B. K., Thomas, G. H., Niel, K. M., Toomes, C., Dixon, M. J. and Geraghty, M. T. (2000) Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Genomics, 65, 67-69.
-
(2000)
Genomics
, vol.65
, pp. 67-69
-
-
Praphanphoj, V.1
Goodman, B.K.2
Thomas, G.H.3
Niel, K.M.4
Toomes, C.5
Dixon, M.J.6
Geraghty, M.T.7
-
8
-
-
0035131812
-
The pupative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
Crisponi, L., Deiana, M., Loi, A. et al. (2001) The pupative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet., 27, 159-166.
-
(2001)
Nat. Genet.
, vol.27
, pp. 159-166
-
-
Crisponi, L.1
Deiana, M.2
Loi, A.3
-
9
-
-
0037318857
-
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype- phenotype correlation
-
De Baere, E., Beysen, D., Oley, C. et al. (2003) FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype- phenotype correlation. Am. J. Hum. Genet., 72, 478-487.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 478-487
-
-
De Baere, E.1
Beysen, D.2
Oley, C.3
-
10
-
-
0346058365
-
Structure, evolution and expression of the FOXL2 transcription unit
-
Cocquet, J., De Baere, E., Gareil, M., Pannetier, M., Xia, X., Fellous, M. and Veitia, R. A. (2003) Structure, evolution and expression of the FOXL2 transcription unit. Cytogenet. Genome Res., 101, 206-211.
-
(2003)
Cytogenet. Genome Res.
, vol.101
, pp. 206-211
-
-
Cocquet, J.1
De Baere, E.2
Gareil, M.3
Pannetier, M.4
Xia, X.5
Fellous, M.6
Veitia, R.A.7
-
11
-
-
33745505572
-
FOXL2 function in ovarian development
-
Uhlenhaut, N. H. and Treier, M. (2006) FOXL2 function in ovarian development. Mol. Genet. Metab., 88, 225-234.
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 225-234
-
-
Uhlenhaut, N.H.1
Treier, M.2
-
12
-
-
33847666428
-
Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics
-
Batista, F., Vaiman, D., Dausset, J., Fellous, M. and Veitia, R. A. (2007) Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics. Proc. Natl Acad. Sci. USA, 104, 3330-3335.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 3330-3335
-
-
Batista, F.1
Vaiman, D.2
Dausset, J.3
Fellous, M.4
Veitia, R.A.5
-
13
-
-
0035878536
-
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
-
De Baere, E., Dixon, M. J., Small, K. W. et al. (2001) Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum. Mol. Genet., 15, 1591-1600.
-
(2001)
Hum. Mol. Genet.
, vol.15
, pp. 1591-1600
-
-
De Baere, E.1
Dixon, M.J.2
Small, K.W.3
-
14
-
-
18644370681
-
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
-
Ramirez-Castro, J. L., Pineda-Trujillo, N., Valencia, A. V. et al. (2002) Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am. J. Med. Genet., 113, 916-922.
-
(2002)
Am. J. Med. Genet.
, vol.113
, pp. 916-922
-
-
Ramirez-Castro, J.L.1
Pineda-Trujillo, N.2
Valencia, A.V.3
-
15
-
-
4344654866
-
A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with Blepharophimosis-ptosis- epicanthus inversus
-
Qian, X. Q., Shu, A. L., Qin, W., Xing, Q. H., Gao, J. J., Yang, J. D., Guo, G. Y. and He, L. (2004) A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with Blepharophimosis-ptosis- epicanthus inversus. Mutat. Res., 554, 19-22.
-
(2004)
Mutat. Res.
, vol.554
, pp. 19-22
-
-
Qian, X.Q.1
Shu, A.L.2
Qin, W.3
Xing, Q.H.4
Gao, J.J.5
Yang, J.D.6
Guo, G.Y.7
He, L.8
-
16
-
-
23844466221
-
A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome
-
Li, W. X., Wang, X. K., Sun, Y., Wang, Y. L., Lin, L. X. and Tang, S. J. (2005) A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 22, 372-375.
-
(2005)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.22
, pp. 372-375
-
-
Li, W.X.1
Wang, X.K.2
Sun, Y.3
Wang, Y.L.4
Lin, L.X.5
Tang, S.J.6
-
17
-
-
33745796792
-
Mutation analysis of FOXL2 in Chinese patients with blepharophimosis- ptosis-epicanthus inversus syndrome
-
Qi, Y. H., Li, Y., Lin, H., Jia, H. Y., Su, H., Gu, J. Z., Huang, S. Z. and Liu, Y. P. (2006) Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Zhonghua Yan Ke Za Zhi, 42, 409-414. (Pubitemid 44018331)
-
(2006)
Chinese Journal of Ophthalmology
, vol.42
, Issue.5
, pp. 409-414
-
-
Qi, Y.-H.1
Li, Y.2
Lin, H.3
Jia, H.-Y.4
Su, H.5
Gu, J.-Z.6
Huang, S.-Z.7
Liu, Y.-P.8
-
18
-
-
33644972214
-
Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
-
Or, S. F., Tong, M. F., Lo, F. M. and Lam, T. S. (2006) Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Chin. Med. J (Engl.), 119, 49-52.
-
(2006)
Chin. Med. J (Engl.)
, vol.119
, pp. 49-52
-
-
Or, S.F.1
Tong, M.F.2
Lo, F.M.3
Lam, T.S.4
-
19
-
-
33344470143
-
Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosisptosis- epicanthus inversus syndrome
-
Tang, S., Wang, X., Lin, L., Sun, Y., Wang, Y. and Yu, H. (2006) Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosisptosis- epicanthus inversus syndrome. Mutagenesis, 21, 35-39.
-
(2006)
Mutagenesis
, vol.21
, pp. 35-39
-
-
Tang, S.1
Wang, X.2
Lin, L.3
Sun, Y.4
Wang, Y.5
Yu, H.6
-
20
-
-
33846663921
-
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis- epicanthus inversus syndrome
-
Wang, J., Liu, J. L. and Zhang, Q. J. (2007) FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Mol. Vis., 26, 108-113.
-
(2007)
Mol. Vis.
, vol.26
, pp. 108-113
-
-
Wang, J.1
Liu, J.L.2
Zhang, Q.J.3
-
21
-
-
35548985841
-
FOXL2 mutations in Indian families with blepharophimosis-ptosis- epicanthus inversus syndrome
-
Nallathambi, J., Neethirajan, G., Usha, K., Jitendra, J., De Baere, E. and Sundaresan, P. (2007) FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome. J. Genet., 86, 165-168.
-
(2007)
J. Genet.
, vol.86
, pp. 165-168
-
-
Nallathambi, J.1
Neethirajan, G.2
Usha, K.3
Jitendra, J.4
De Baere, E.5
Sundaresan, P.6
-
22
-
-
45749097177
-
Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
-
Beysen, D., De Jaegere, S., Amor, D. et al. (2008) Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome. Hum. Mutat., 29, 205-219.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 205-219
-
-
Beysen, D.1
De Jaegere, S.2
Amor, D.3
-
23
-
-
33845977035
-
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
-
Leon-Mateos, A., Ginarte, M., Ruiz-Ponte, C., Carracedo, A. and Toribio, J. (2007) Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Int. J. Dermatol., 46, 61-63.
-
(2007)
Int. J. Dermatol.
, vol.46
, pp. 61-63
-
-
Leon-Mateos, A.1
Ginarte, M.2
Ruiz-Ponte, C.3
Carracedo, A.4
Toribio, J.5
-
24
-
-
33745599582
-
A flexible computational framework for detecting, characterizing, and interpreting statistical patterns of epistasis in genetic studies of human disease susceptibility
-
Moore, J. H., Gilbert, J. C., Tsai, C. T., Chiang, F. T., Holden, T., Barney, N. and White, B. C. (2006) A flexible computational framework for detecting, characterizing, and interpreting statistical patterns of epistasis in genetic studies of human disease susceptibility. J. Theor. Biol., 241, 252-261.
-
(2006)
J. Theor. Biol.
, vol.241
, pp. 252-261
-
-
Moore, J.H.1
Gilbert, J.C.2
Tsai, C.T.3
Chiang, F.T.4
Holden, T.5
Barney, N.6
White, B.C.7
-
25
-
-
18444417980
-
MDR and PRP: A comparison of methods for high-order genotype-phenotype associations
-
Bastone, L., Reilly, M., Rader, D. J. and Foulkes, A. S. (2004) MDR and PRP: a comparison of methods for high-order genotype-phenotype associations. Hum. Hered., 58, 82-92.
-
(2004)
Hum. Hered.
, vol.58
, pp. 82-92
-
-
Bastone, L.1
Reilly, M.2
Rader, D.J.3
Foulkes, A.S.4
-
26
-
-
10744223971
-
Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
-
Lavoie, H., Debeane, F., Trinh, Q. D. et al. (2003) Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum. Mol. Genet., 12, 2967-2979.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2967-2979
-
-
Lavoie, H.1
Debeane, F.2
Trinh, Q.D.3
-
27
-
-
0029871929
-
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
-
Muragaki, Y., Mundlos, S., Upton, J. and Olsen, B. R. (1996) Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science, 272, 548-551.
-
(1996)
Science
, vol.272
, pp. 548-551
-
-
Muragaki, Y.1
Mundlos, S.2
Upton, J.3
Olsen, B.R.4
-
28
-
-
0347418199
-
Alanine tracts: The expanding story of human illness and trinucleotide repeats
-
Brown, L. Y. and Brown, S. A. (2004) Alanine tracts: The expanding story of human illness and trinucleotide repeats. Trends Genet., 20, 51-58.
-
(2004)
Trends Genet.
, vol.20
, pp. 51-58
-
-
Brown, L.Y.1
Brown, S.A.2
-
29
-
-
10844222804
-
A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation
-
Caburet, S., Demarez, A., Moumne, L., Fellous, M., De Baere, E. and Veitia, R. A. (2004) A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation. J. Med. Genet., 41, 932-936.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 932-936
-
-
Caburet, S.1
Demarez, A.2
Moumne, L.3
Fellous, M.4
De Baere, E.5
Veitia, R.A.6
-
30
-
-
19544394236
-
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions
-
Albrecht, A. N., Kornak, U., Böddrich, A. et al. (2004) A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum. Mol. Genet., 13, 2351-2359.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2351-2359
-
-
Albrecht, A.N.1
Kornak, U.2
Böddrich, A.3
-
31
-
-
34547914479
-
Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome
-
Lin, L. X., Tang, S. J., Wang, X. K., Sun, Y. and Wang, Y. L. (2007) Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome. Zhonghua Yan Ke Za Zhi, 43, 535-539.
-
(2007)
Zhonghua Yan Ke Za Zhi
, vol.43
, pp. 535-539
-
-
Lin, L.X.1
Tang, S.J.2
Wang, X.K.3
Sun, Y.4
Wang, Y.L.5
-
32
-
-
41149124043
-
Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development
-
Moumne, L., Dipietromaria, A., Batista, F., Kocer, A., Fellous, M., Pailhoux, E. and Veitia, R. A. (2008) Differential aggregation and functional impairment induced by polyalanine expansions in FOXL2, a transcription factor involved in cranio-facial and ovarian development. Hum. Mol. Genet., 17, 1010-1019.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1010-1019
-
-
Moumne, L.1
Dipietromaria, A.2
Batista, F.3
Kocer, A.4
Fellous, M.5
Pailhoux, E.6
Veitia, R.A.7
-
33
-
-
45749152585
-
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
-
Beysen, D., Moumne, L., Veitia, R., Peters, H., Leroy, B. P., De Paepe, A. and De Baere, E. (2008) Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. Hum. Mol. Genet., 17, 2030-2038.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2030-2038
-
-
Beysen, D.1
Moumne, L.2
Veitia, R.3
Peters, H.4
Leroy, B.P.5
De Paepe, A.6
De Baere, E.7
-
34
-
-
28744431913
-
Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation
-
Moumne, L., Fellous, M. and Veitia, R. A. (2005) Deletions in the polyAlanine-containing transcription factor FOXL2 lead to intranuclear aggregation. Hum. Mol. Genet., 14, 3557-3564.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3557-3564
-
-
Moumne, L.1
Fellous, M.2
Veitia, R.A.3
-
35
-
-
55749098336
-
Recent developments in identifying genetic determinants of premature ovarian failure
-
Skillern, A. and Rajkovic, A. (2008) Recent developments in identifying genetic determinants of premature ovarian failure. Sex. Dev., 2, 228-243.
-
(2008)
Sex. Dev.
, vol.2
, pp. 228-243
-
-
Skillern, A.1
Rajkovic, A.2
-
36
-
-
33745505572
-
Foxl2 function in ovarian development
-
Uhlenhaut, N. H. and Treier, M. (2006) Foxl2 function in ovarian development. Mol. Genet. Metab., 88, 225-234.
-
(2006)
Mol. Genet. Metab.
, vol.88
, pp. 225-234
-
-
Uhlenhaut, N.H.1
Treier, M.2
-
37
-
-
4344613525
-
Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure
-
Bodega, B., Porta, C., Crosignani, P. G., Ginelli, E. and Marozzi, A. (2004) Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure. Mol. Hum. Reprod., 10, 555-557.
-
(2004)
Mol. Hum. Reprod.
, vol.10
, pp. 555-557
-
-
Bodega, B.1
Porta, C.2
Crosignani, P.G.3
Ginelli, E.4
Marozzi, A.5
-
38
-
-
77957253189
-
Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients
-
Nallathambi, J., Laissue, P., Batista, F. et al. (2008) Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. Hum. Mutat., 29, E123-E131.
-
(2008)
Hum. Mutat.
, vol.29
-
-
Nallathambi, J.1
Laissue, P.2
Batista, F.3
-
39
-
-
33947196237
-
A novel polyalanine expansion in FOXL2: The first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
-
Nallathambi, J., Moumne, L., De Baere, E., Beysen, D., Usha, K., Sundaresan, P. and Veitia, R. A. (2007) A novel polyalanine expansion in FOXL2: The first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. Hum. Genet., 121, 107-112.
-
(2007)
Hum. Genet.
, vol.121
, pp. 107-112
-
-
Nallathambi, J.1
Moumne, L.2
De Baere, E.3
Beysen, D.4
Usha, K.5
Sundaresan, P.6
Veitia, R.A.7
-
40
-
-
22544447060
-
Deletions involving longrange conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
-
Beysen, D., Raes, J., Leroy, B. P. et al. (2005) Deletions involving longrange conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am. J. Hum. Genet., 77, 205-218.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 205-218
-
-
Beysen, D.1
Raes, J.2
Leroy, B.P.3
-
41
-
-
41149158626
-
Blepharophimosisptosis- epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)
-
Tzschach, A., Kelbova, C., Weidensee, S. et al. (2008) Blepharophimosisptosis- epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). Ophthalmic Genet., 29, 37-40.
-
(2008)
Ophthalmic Genet.
, vol.29
, pp. 37-40
-
-
Tzschach, A.1
Kelbova, C.2
Weidensee, S.3
-
42
-
-
59749101082
-
FOXL2 mutations and genomic rearrangements in BPES
-
Beysen, D., De Paepe, A. and De Baere, E. (2009) FOXL2 mutations and genomic rearrangements in BPES. Hum. Mutat., 30, 158-169.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 158-169
-
-
Beysen, D.1
De Paepe, A.2
De Baere, E.3
|