-
1
-
-
0035726994
-
Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2
-
Bell R, Murday VA, Patton MA, Jeffery S. 2001. Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2. Genet Test 5:335-338.
-
(2001)
Genet Test
, vol.5
, pp. 335-338
-
-
Bell, R.1
Murday, V.A.2
Patton, M.A.3
Jeffery, S.4
-
2
-
-
0033621781
-
MuStaR and other software for locus-specific mutation databases
-
Brown AF, McKie MA. 2000. MuStaR and other software for locus-specific mutation databases. Hum Mutat 15(1):76-85.
-
(2000)
Hum Mutat
, vol.15
, Issue.1
, pp. 76-85
-
-
Brown, A.F.1
McKie, M.A.2
-
3
-
-
0347418199
-
Alanine tracts: The expanding story of human illness and trinucleotide repeats
-
Brown LY, Brown SA. 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
-
4
-
-
0344740660
-
Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome
-
Cha SC, Jang YS, Lee JH, Kim HK, Kim SC, Kim S, Baek S-H, Jung WS, Kim J-R. 2003. Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome. Clin Genet 64:485-490.
-
(2003)
Clin Genet
, vol.64
, pp. 485-490
-
-
Cha, S.C.1
Jang, Y.S.2
Lee, J.H.3
Kim, H.K.4
Kim, S.C.5
Kim, S.6
Baek, S.-H.7
Jung, W.S.8
Kim, J.-R.9
-
5
-
-
0036913692
-
Evolution and expression of FOXL2
-
Cocquet J, Pailhoux E, Jaubert F, Servel N, Xia X, Pannetier M, De Baere E, Messiaen L, Cotinot C, Fellous M, Veitia RA. 2002. Evolution and expression of FOXL2. J Med Genet 39:916-921.
-
(2002)
J Med Genet
, vol.39
, pp. 916-921
-
-
Cocquet, J.1
Pailhoux, E.2
Jaubert, F.3
Servel, N.4
Xia, X.5
Pannetier, M.6
De Baere, E.7
Messiaen, L.8
Cotinot, C.9
Fellous, M.10
Veitia, R.A.11
-
6
-
-
0346058365
-
Structure, evolution and expression of FOXL2 transcription unit
-
Cocquet J, De Baere E, Gareil M, Pannetier M, Xia X, Fellous F, Veitia RA. 2003. Structure, evolution and expression of 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, F.6
Veitia, R.A.7
-
7
-
-
0035131812
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. 2001. The putative 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
Chiappe, F.4
Uda, M.5
Amati, P.6
Bisceglia, L.7
Zelante, L.8
Nagaraja, R.9
Porcu, S.10
Ristaldi, M.S.11
Marzella, R.12
Rocchi, M.13
Nicolino, M.14
Lienhardt-Roussie, A.15
Nivelon, A.16
Verloes, A.17
Schlessinger, D.18
Gasparini, P.19
Bonneau, D.20
Cao, A.21
Pilia, G.22
more..
-
8
-
-
4143062909
-
Genetic basis for nonsyndromic and syndromic blepharophimosis/ptosis and epicanthus inversus syndrome (BPES)-associated premature ovarian failure (POF)
-
Program Nr: 885
-
Crisponi L, Uda M, Chiappe F, Deiana M, Usala GL, Marongiu M, Amati P, Bonneau D, Faravelli F, Tolmie J, Bisceglia L, Piemontese MR, Zelante L, Gasparini P, Criponi G, Boccone L, Iolascon A, Percesepe A, Forabosco A, Pilla G, FOXL2 Study Group. 2002. Genetic basis for nonsyndromic and syndromic blepharophimosis/ptosis and epicanthus inversus syndrome (BPES)-associated premature ovarian failure (POF). [Program Nr: 885]. Am J Hum Genet 71(Suppl 4):325.
-
(2002)
Am J Hum Genet
, vol.71
, Issue.SUPPL. 4
, pp. 325
-
-
Crisponi, L.1
Uda, M.2
Chiappe, F.3
Deiana, M.4
Usala, G.L.5
Marongiu, M.6
Amati, P.7
Bonneau, D.8
Faravelli, F.9
Tolmie, J.10
Bisceglia, L.11
Piemontese, M.R.12
Zelante, L.13
Gasparini, P.14
Criponi, G.15
Boccone, L.16
Iolascon, A.17
Percesepe, A.18
Forabosco, A.19
Pilla, G.20
more..
-
9
-
-
0035878536
-
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
-
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. 2001. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis- epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet 10:1591-1600.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1591-1600
-
-
De Baere, E.1
Dixon, M.J.2
Small, K.W.3
Jabs, E.W.4
Leroy, B.P.5
Devriendt, K.6
Gillerot, Y.7
Mortier, G.8
Meire, F.9
Van Maldergem, L.10
Courtens, W.11
Hjalgrim, H.12
Huang, S.13
Liebaers, I.14
Van Regemorter, N.15
Touraine, P.16
Praphanphoj, V.17
Verloes, A.18
Udar, N.19
Yellore, V.20
Chalukya, M.21
Yelchits, S.22
De Paepe, A.23
Kuttenn, F.24
Fellous, M.25
Veitia, R.26
Messiaen, L.27
more..
-
10
-
-
18344417900
-
FOXL2 mutation screening in a large panel of POF patients and XX males
-
De Baere E, Lemercier B, Christin-Maitre S, Durval D, Messiaen L, Fellous M, Veitia R. 2002. FOXL2 mutation screening in a large panel of POF patients and XX males. J Med Genet 39:e43.
-
(2002)
J Med Genet
, vol.39
-
-
De Baere, E.1
Lemercier, B.2
Christin-Maitre, S.3
Durval, D.4
Messiaen, L.5
Fellous, M.6
Veitia, R.7
-
11
-
-
0037318857
-
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
-
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. 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
Lorenz, B.4
Cocquet, J.5
De Sutter, P.6
Devriendt, K.7
Dixon, M.8
Fellous, M.9
Fryns, J.P.10
Garza, A.11
Jonsrud, C.12
Koivisto, P.A.13
Krause, A.14
Leroy, B.P.15
Meire, F.16
Plomp, A.17
Van Maldergem, L.18
De Paepe, A.19
Veitia, R.20
Messiaen, L.21
more..
-
12
-
-
0043133777
-
Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
-
Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, Abu-Eid M, Speeg-Schatz C, Francfort JJ, Flament J, Veillon F, Perrin-Schmitt F. 2003. Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin Genet 63:117-120.
-
(2003)
Clin Genet
, vol.63
, pp. 117-120
-
-
Dollfus, H.1
Stoetzel, C.2
Riehm, S.3
Lahlou Boukoffa, W.4
Bediard Boulaneb, F.5
Quillet, R.6
Abu-Eid, M.7
Speeg-Schatz, C.8
Francfort, J.J.9
Flament, J.10
Veillon, F.11
Perrin-Schmitt, F.12
-
13
-
-
0041778256
-
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
-
Fokstuen S, Antonarakis SE, Blouin JL. 2003. FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. Am J Med Genet 117A:143-146.
-
(2003)
Am J Med Genet
, vol.117 A
, pp. 143-146
-
-
Fokstuen, S.1
Antonarakis, S.E.2
Blouin, J.L.3
-
14
-
-
0036061053
-
Identification of novel mutations in FOXL2 associated with premature ovarian failure
-
Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN. 2002. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod 8:729-733.
-
(2002)
Mol Hum Reprod
, vol.8
, pp. 729-733
-
-
Harris, S.E.1
Chand, A.L.2
Winship, I.M.3
Gersak, K.4
Aittomaki, K.5
Shelling, A.N.6
-
15
-
-
0036210317
-
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: Differential role of the polyalanine tract in the development of the ovary and the eyelid
-
Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. 2002. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genet 23:43-47.
-
(2002)
Ophthalmic Genet
, vol.23
, pp. 43-47
-
-
Kosaki, K.1
Ogata, T.2
Kosaki, R.3
Sato, S.4
Matsuo, N.5
-
16
-
-
0038649161
-
Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development
-
Loffler KA, Zarkower D, Koopman P. 2003. Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. Endocrinology 144:3237-3243.
-
(2003)
Endocrinology
, vol.144
, pp. 3237-3243
-
-
Loffler, K.A.1
Zarkower, D.2
Koopman, P.3
-
17
-
-
0035136679
-
A fork in the road to fertility
-
Prueitt RL, Zinn AR. 2001. A fork in the road to fertility. Nat Genet 27:132-134.
-
(2001)
Nat Genet
, vol.27
, pp. 132-134
-
-
Prueitt, R.L.1
Zinn, A.R.2
-
18
-
-
18644370681
-
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
-
Ramirez-Castro JL, Pineda-Trujillo N, Valencia AV, Muneton CM, Botero O, Trujillo O, Vasquez G, Mora BE, Durango N, Bedoya G, Ruiz-Linares A. 2002. Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am J Med Genet 113:47-51.
-
(2002)
Am J Med Genet
, vol.113
, pp. 47-51
-
-
Ramirez-Castro, J.L.1
Pineda-Trujillo, N.2
Valencia, A.V.3
Muneton, C.M.4
Botero, O.5
Trujillo, O.6
Vasquez, G.7
Mora, B.E.8
Durango, N.9
Bedoya, G.10
Ruiz-Linares, A.11
-
19
-
-
1342327343
-
The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance
-
Schmidt D, Ovitt CE, Anlag K, Fehsenfeld S, Gredsted L, Treier AC, Treier M. 2004. The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. Development 131:933-942.
-
(2004)
Development
, vol.131
, pp. 933-942
-
-
Schmidt, D.1
Ovitt, C.E.2
Anlag, K.3
Fehsenfeld, S.4
Gredsted, L.5
Treier, A.C.6
Treier, M.7
-
20
-
-
2642653223
-
Multistep signaling requirements for pituitary organogenesis in vivo
-
Treier M, Gleiberman AS, O'Connell SM, Szeto DP, McMahon JA, McMahon AP, Rosenfeld MG. 1998. Multistep signaling requirements for pituitary organogenesis in vivo. Genes Dev 12:1691-1704.
-
(1998)
Genes Dev
, vol.12
, pp. 1691-1704
-
-
Treier, M.1
Gleiberman, A.S.2
O'Connell, S.M.3
Szeto, D.P.4
McMahon, J.A.5
McMahon, A.P.6
Rosenfeld, M.G.7
-
21
-
-
0041815947
-
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients
-
Udar N, Yellore V, Chalukya M, Yelchits S, Silva-Garcia R, Small K. 2003. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. Hum Mutat 22:222-228.
-
(2003)
Hum Mutat
, vol.22
, pp. 222-228
-
-
Udar, N.1
Yellore, V.2
Chalukya, M.3
Yelchits, S.4
Silva-Garcia, R.5
Small, K.6
-
22
-
-
0035670452
-
Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome
-
Yamada T, Hayasaka S, Matsumoto M, Budu, Esa T, Hayasaka Y, Endo M. 2001. Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. J Hum Genet 46:733-736.
-
(2001)
J Hum Genet
, vol.46
, pp. 733-736
-
-
Yamada, T.1
Hayasaka, S.2
Matsumoto, M.3
Budu4
Esa, T.5
Hayasaka, Y.6
Endo, M.7
-
23
-
-
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
|