|1|Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
Chawla B.... Ghose S.
|2|Differential Apoptotic and Proliferative Activities of Wild-type FOXL2 and Blepharophimosis-ptosis-epicanthus Inversus Syndrome (BPES)-associated Mutant FOXL2 Proteins. (24240106)
Kim J.H.... Bae J.
|3|The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients. (22926839)
Fan J.... Fan X.
|4|A rare cause of congenital ptosis: Blepharophimosis, ptosis and epicanthus inversus syndrome. (23560022)
Setty G.... Hussain N.
|5|Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay. (21934608)
Zahanova S.... Nowaczyk M.J.
|6|Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female. (22906557)
Alao M.J.... Rooryck C.
|7|De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay. (21471554)
Lim B.C.... Chae J.H.
|8|Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination, and histopathologic examination. (22159675)
Decock C.E.... Claerhout I.
|9|Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
Zhou Z.M.... Wu L.Q.
|10|Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family. (19929410)
Chouchene I.... El Matri L.
|11|A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome. (19969293)
CorrA-a F.J.... AbrALo M.S.
|12|Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. (19951599)
Huang D.P.... Ge J.
|13|FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records. (19592504)
Xu Y.... Yan X.
|14|Blepharophimosis-ptosis-epicanthus inversus syndrome and hypergonadotropic hypogonadism. (18793770)
Siewert A.L.... Hansen K.A.
|15|Tamoxifen treatment in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome and peripheral precocious puberty. (17451085)
GonzA!lez-NiA+o C.... Carrascosa A.
|16|Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome]. (17897532)
Lin L.X.... Wang Y.L.
|17|Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case. (16814186)
Mari F.... Lasorella G.
|18|Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. (16015581)
de Ru M.H.... Van Hagen J.M.
|19|Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. (16208278)
De Baere E.... Fellous M.
|20|A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome. (16086270)
Li W.X.... Tang S.J.
|21|A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. (16131596)
Raile K.... PfAoffle R.
|22|The incidence of strabismus and refractive error in patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). (14710475)
Dawson E.L.... Lee J.P.
|23|Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. (12630957)
Dollfus H.... Perrin-Schmitt F.
|24|Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
Ogata T.... Matsuo N.
|25|Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. (9727204)
Bisceglia L.... Zelante L.
|26|Concerning the article by Ogata et al. Hypergonadotrophic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (10206790)
|27|A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. (9272742)
Piemontese M.R.... Bisceglia L.
|28|The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (7586651)
|29|Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly. (7802022)
Ishikiriyama S.... Goto M.
|30|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. (8291545)
Jewett T.... Pettenati M.J.
|31|The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. (6613996)
Zlotogora J.... Cohen T.
|32|SURGICAL REPAIR OF THE SYNDROME OF EPICANTHUS INVERSUS, BLEPHAROPHIMOSIS AND PTOSIS. (14109036)