|1|Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (24725350)
Dean S.J.... Lyons M.J.
|2|An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. (24458743)
Yu H.C.... Shaikh T.H.
|3|Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. (24715367)
Isidor B.... David A.
|4|Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. (24212221)
Shah B.M.... Dada R.
|5|Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome. (23441113)
Jiang H.... Zhang K.
|6|Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population. (23513057)
Chawla B.... Ghose S.
|7|Increased levator muscle function by supramaximal resection in patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (23044971)
|8|Wakayama Symposium: Notch-FoxL2-I+-SMA axis in eyelid levator muscle development and congenital blepharophimosis. (23084143)
|9|Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (21321671)
Hu S.... Qi Y.
|10|A one-stage correction of the blepharophimosis syndrome using a standard combination of surgical techniques. (21455822)
SebastiA! R.... Ventura M.P.
|11|Blepharophimosis-ptosis-epicanthus inversus syndrome. (21696507)
Graziadio C.... Paskulin G.A.
|12|Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis. (21730020)
Zhang Y.... Liu C.Y.
|13|Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome]. (21055199)
Zhou Z.M.... Wu L.Q.
|14|FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome. (20184535)
Lin W.D.... Tsai F.J.
|15|Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome. (19951599)
Huang D.P.... Ge J.
|16|One-stage correction for blepharophimosis syndrome. (17115018)
Wu S.Y.... Kuo J.Z.
|17|Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. (18262484)
Bartholdi D.... Riegel M.
|18|Surgical strategy for congenital blepharophimosis syndrome. (17825170)
Huang W.Q.... Fang X.Q.
|19|Retinitis pigmentosa associated with blepharophimosis, blue dot cataract and primary inferior oblique overaction: a new syndrome complex? (17322611)
Vedantham V.... Vijayalakshmi P.
|20|Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
Khan A.O.... Meyer B.
|21|Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. (16454982)
Or S.F.... Lam T.S.
|22|Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. (15962237)
Beysen D.... De Baere E.
|23|Premature menopause in association with blepharophimosis, ptosis, and epicanthus inversus. (16147759)
Swanton A.... Fairbank J.
|24|Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (15366814)
|25|FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
Fokstuen S.... Blouin J.L.
|26|Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. (12648048)
Beckingsale P.S.... Oley C.
|27|The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (11175783)
Crisponi L.... Pilia G.
|28|Heterozygous 17-bp deletion in the forkhead transcription factor gene, FOXL2, in a Japanese family with blepharophimosis-ptosis-epicanthus inversus syndrome. (11776388)
Yamada T.... Endo M.
|29|Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: report of two sibs with a unique syndrome. (10528253)
Nowaczyk M.J.... Sutcliffe T.L.
|30|Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (9762009)
Ogata T.... Matsuo N.
|31|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.
|32|Vertical transmission of the Ohdo blepharophimosis syndrome. (9605288)
Mhanni A.A.... Chudley A.E.
|33|Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation. (8818456)
Karimi-Nejad A.... Karimi-Nejad M.H.
|34|Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
|35|Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
Chismire K.J.... Witkop G.S.
|36|Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant. (8074148)
Suri M.... Verma I.C.
|37|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.
|38|Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). (8474111)
Bonthron D.T.... Barr D.G.
|39|Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? (8326500)
de Die-Smulders C.E.... Fryns J.P.
|40|Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome? (8305965)
Wittebol-Post D.... Hennekam R.C.
|41|Correction of telecanthus in the blepharophimosis syndrome. (1639597)
|42|Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome. (2746615)
Smith A.... Russell P.
|43|Epicanthal folds and blepharophimosis: a new technique. (3256097)
|44|Ptosis with blepharophimosis and epicanthus inversus. (3697568)
Elliot D.... Wallace A.F.
|45|Blepharophimosis and its association with female infertility. (6743620)
Jones C.A.... Collin J.R.
|46|Blepharophimosis and female infertility. (6148531) |1984|
|47|Surgical management of blepharophimosis syndrome. (6677584)
Betharia S.M.... Kalra B.R.
|48|Schwartz syndrome: myotonia with blepharophimosis and limitation of joints. (5042497)
Saadat M.... Ziai M.
|49|Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name. (5568616)
Kohn R.... Romano P.E.
|50|Hereditary bilateral ptosis and blepharophimosis associated with other developmental abnormalities of the outer eye. (14808191)