-
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(1):47-51. (Pubitemid 18042303)
-
(1988)
Journal of Medical Genetics
, vol.25
, Issue.1
, pp. 47-51
-
-
Oley, C.1
Baraitser, M.2
-
2
-
-
80052732207
-
Correction of the lower eyelid malpositioning in the blepharophimosis- ptosis-epicanthus inversus syndrome
-
Decock CE, Claerhout I, Leroy BP, Kesteleyn P, Shah AD, De Baere E. Correction of the lower eyelid malpositioning in the blepharophimosis-ptosis- epicanthus inversus syndrome. Ophthal Plast Reconstr Surg. 2011;27(5):368-370.
-
(2011)
Ophthal Plast Reconstr Surg
, vol.27
, Issue.5
, pp. 368-370
-
-
Decock, C.E.1
Claerhout, I.2
Leroy, B.P.3
Kesteleyn, P.4
Shah, A.D.5
De Baere, E.6
-
3
-
-
0035131812
-
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
-
DOI 10.1038/84781
-
Crisponi L, Deiana M, Loi A, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet. 2001;27(2):159-166. (Pubitemid 32157442)
-
(2001)
Nature Genetics
, vol.27
, Issue.2
, 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
Serafina, R.M.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..
-
4
-
-
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, et al. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet. 2001;10(15):1591-1600. (Pubitemid 32734311)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.15
, 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..
-
5
-
-
0037318857
-
FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
-
DOI 10.1086/346118
-
De Baere E, Beysen D, Oley C, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003;72(2):478-487. (Pubitemid 36194256)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.2
, 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..
-
6
-
-
45749097177
-
Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
-
doi:10.1002/humu.20819
-
Beysen D, De Jaegere S, Amor D, et al. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome. Hum Mutat. 2008;29(11):E205-E219. doi:10.1002/humu.20819.
-
(2008)
Hum Mutat
, vol.29
, Issue.11
-
-
Beysen, D.1
De Jaegere, S.2
Amor, D.3
-
7
-
-
59749101082
-
FOXL2 mutations and genomic rearrangements in BPES
-
Beysen D, De Paepe A, De Baere E. FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat. 2009;30(2):158-169.
-
(2009)
Hum Mutat
, vol.30
, Issue.2
, pp. 158-169
-
-
Beysen, D.1
De Paepe, A.2
De Baere, E.3
-
8
-
-
0038369018
-
Blepharophimosis: A recommendation for early surgery in patients with severe ptosis
-
DOI 10.1046/j.1442-9071.2003.00621.x
-
Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. Clin Experiment Ophthalmol. 2003;31(2):138-142. (Pubitemid 36553138)
-
(2003)
Clinical and Experimental Ophthalmology
, vol.31
, Issue.2
, pp. 138-142
-
-
Beckingsale, P.S.1
Sullivan, T.J.2
Wong, V.A.3
Oley, C.4
-
9
-
-
0029864373
-
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
-
Strømme P, Sandboe F. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Acta Ophthalmol Scand. 1996;74(1):45-47. (Pubitemid 26093805)
-
(1996)
Acta Ophthalmologica Scandinavica
, vol.74
, Issue.1
, pp. 45-47
-
-
Stromme, P.1
Sandboe, F.2
-
10
-
-
80051566237
-
Levator muscle function is increased by super-maximal resection in BPES patients
-
Decock C, Shah A, Delaey C, et al. Levator muscle function is increased by super-maximal resection in BPES patients. Arch Ophthalmol. 2011;129(8):1018-1022.
-
(2011)
Arch Ophthalmol
, vol.129
, Issue.8
, pp. 1018-1022
-
-
Decock, C.1
Shah, A.2
Delaey, C.3
-
11
-
-
42249107967
-
Use of high-resolution microscopy coil MRI for depicting orbital anatomy
-
DOI 10.1080/01676830701558166, PII 792196408
-
Georgouli T, Chang B, Nelson M, et al. Use of high-resolution microscopy coil MRI for depicting orbital anatomy. Orbit. 2008;27(2):107-114. (Pubitemid 351549784)
-
(2008)
Orbit
, vol.27
, Issue.2
, pp. 107-114
-
-
Georgouli, T.1
Chang, B.2
Nelson, M.3
James, T.4
Tanner, S.5
Shelley, D.6
Saldana, M.7
McGonagle, D.8
-
12
-
-
50449086619
-
High-resolution microscopy coil MR-Eye
-
Georgouli T, James T, Tanner S, et al. High-resolution microscopy coil MR-Eye. Eye (Lond). 2008;22(8):994-996.
-
(2008)
Eye (Lond)
, vol.22
, Issue.8
, pp. 994-996
-
-
Georgouli, T.1
James, T.2
Tanner, S.3
-
14
-
-
0031716727
-
High-resolution magnetic resonance imaging of the orbital connective tissue system
-
Ettl A, Koornneef L, Daxer A, Kramer J. High-resolution magnetic resonance imaging of the orbital connective tissue system. Ophthal Plast Reconstr Surg. 1998;14(5):323-327. (Pubitemid 28447121)
-
(1998)
Ophthalmic Plastic and Reconstructive Surgery
, vol.14
, Issue.5
, pp. 323-327
-
-
Ettl, A.1
Koornneef, L.2
Daxer, A.3
Kramer, J.4
-
15
-
-
0032231661
-
Septum orbitale: High-resolution MR in orbital anatomy
-
Hoffmann KT, Hosten N, Lemke AJ, Sander B, Zwicker C, Felix R. Septum orbitale: high-resolution MR in orbital anatomy. AJNR Am J Neuroradiol. 1998;19(1):91-94. (Pubitemid 30430589)
-
(1998)
American Journal of Neuroradiology
, vol.19
, Issue.1
, pp. 91-94
-
-
Hoffmann, K.-T.1
Hosten, N.2
Lemke, A.-J.3
Sander, B.4
Zwicker, C.5
Felix, R.6
-
16
-
-
0029812097
-
Functional anatomy of the levator palpebrae superioris muscle and its connective tissue system
-
Ettl A, Priglinger S, Kramer J, Koornneef L. Functional anatomy of the levator palpebrae superioris muscle and its connective tissue system. Br J Ophthalmol. 1996;80(8):702-707. (Pubitemid 26334912)
-
(1996)
British Journal of Ophthalmology
, vol.80
, Issue.8
, pp. 702-707
-
-
Ettl, A.1
Priglinger, S.2
Kramer, J.3
Koornneef, L.4
-
17
-
-
0043133777
-
Sporadic and familial blepharophimosis-ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle
-
DOI 10.1034/j.1399-0004.2003.00011.x
-
Dollfus H, Stoetzel C, Riehm S, et al. Sporadic and familial blepharophimosisptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. Clin Genet. 2003;63(2):117-120. (Pubitemid 36949905)
-
(2003)
Clinical Genetics
, vol.63
, Issue.2
, pp. 117-120
-
-
Dollfus, H.1
Stoetzel, C.2
Riehm, S.3
Lahlou, B.W.4
Bediard, B.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
-
18
-
-
33644884502
-
Clinical and anatomical substantiation of levator resection in the complex surgical treatment of BPES
-
DOI 10.1080/01676830500543062, PII R7162538076212
-
Tronina SA, Bobrova NF, Khrinenko VP. Clinical and anatomical substantiation of levator resection in the complex surgical treatment of BPES. Orbit. 2006;25(1):5-10. (Pubitemid 43379124)
-
(2006)
Orbit
, vol.25
, Issue.1
, pp. 5-10
-
-
Tronina, S.A.1
Bobrova, N.F.2
Khrinenko, V.P.3
-
19
-
-
73849169554
-
Studies on congenital genuine blepharoptosis: Morphological and functional investigations of the upper eyelid
-
Isaksson I. Studies on congenital genuine blepharoptosis: morphological and functional investigations of the upper eyelid. Acta Ophthalmol Suppl. 1962;72:1-121.
-
(1962)
Acta Ophthalmol Suppl
, vol.72
, pp. 1-121
-
-
Isaksson, I.1
-
20
-
-
0021949668
-
A contribution to the histological and topographical anatomy of the aponeurosis of the levator palpebrae superioris and of the tarsal muscle in the normallid and in blepharoptosis
-
DOI 10.1007/BF00128373
-
Landolt E. A contribution to the histological and topographical anatomy of the aponeurosis of the levator palpebrae superioris and of the tarsal muscle in the normal lid and in blepharoptosis. Int Ophthalmol. 1985;7(3-4):249-253. (Pubitemid 15109420)
-
(1985)
International Ophthalmology
, vol.7
, Issue.3-4
, pp. 249-253
-
-
Landolt, E.1
-
21
-
-
0001514351
-
Histology of levator muscle in congenital and acquired ptosis
-
Berke RN, Wadsworth JA. Histology of levator muscle in congenital and acquired ptosis. AMA Arch Ophthalmol. 1955;53(3):413-428.
-
(1955)
AMA Arch Ophthalmol
, vol.53
, Issue.3
, pp. 413-428
-
-
Berke, R.N.1
Wadsworth, J.A.2
-
22
-
-
34547651177
-
Structural abnormalities in the levator palpebrae superioris muscle in patients with congenital blepharoptosis
-
Iljin A, Zielinska A, Karasek M, Zielinski A, Omulecka A. Structural abnormalities in the levator palpebrae superioris muscle in patients with congenital blepharoptosis. Ophthalmic Surg Lasers Imaging. 2007;38(4):283-289. (Pubitemid 47280426)
-
(2007)
Ophthalmic Surgery Lasers and Imaging
, vol.38
, Issue.4
, pp. 283-289
-
-
Iljin, A.1
Zielinska, A.2
Karasek, M.3
Zielinski, A.4
Omulecka, A.5
|