• A clinical dilemma: the potential use of egg freezing to preserve fertility in a young patient at risk of developing premature ovarian failure
• 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
• A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q
• A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I
• A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus
• A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci
• Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum
• Blepharophimosis ptosis epicanthus inversus syndrome (BPES) (corrected)
• Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) Type 1 in an Indian Family
• Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
• Blepharophimosis-ptosis-epicanthus inversus associated with infertility
• Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
• Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)
• 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
• Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
• Blepharophimosis, ptosis, and epicanthus inversus syndrome: clinical and molecular analysis of a case
• Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype
• Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female
• Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of <em>FOXL2</em> and Review of the Literature
• Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1
• Chiari Type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two cases
• Clinical analysis of four patients with Schwartz-Jampel syndrome
• Clinical and demographic characteristics of ptosis in children: a national tertiary hospital study
• Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome
• Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint
• Confrontment and solution to gonadotropin resistance and low oocyte retrieval in in vitro fertilization for type I BPES: a case series with review of literature
• Deletion and mutation analysis to FOXL2 in blepharophimosis-ptosis-epicanthus inversus syndrome
• Diabetes mellitus, mental retardation, lipodystrophy and dysmorphic traits
• Differential apoptotic activities of wild-type FOXL2 and the adult-type granulosa cell tumor-associated mutant FOXL2 (C134W)
• Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases
• FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
• 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
• FOXL2 impairment in human disease
• FOXL2 mutations and genomic rearrangements in BPES
• FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)
• FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
• FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients
• Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
• Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family
• Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome
• Genetic diseases affecting the eyelids: what should a clinician know?
• Genomic Disruption of <em>FOXL2</em> in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation
• Gore-Tex soft-tissue patch frontalis suspension technique in congenital ptosis and in blepharophimosis-ptosis syndrome
• Guadalajara camptodactyly syndrome type I: report on a new case
• Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome
• Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis‑-ptosis-epicanthus inversus syndrome
• Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES
• Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing
• MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review
• Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II
• Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
• Mutation analysis of FOXL2 gene and its structure protein in patients of blepharophimosis-ptosis-epicanthus inversus syndrome
• Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
• Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome
• Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
• Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
• Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
• Planned oocyte cryopreservation in women with blepharophimosis-ptosis-epicanthus inversus syndrome: a case series
• Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C &gt; T p.(Leu75Phe) FOXL2 mutation: a case report
• Schwart-Jampel osteo-chondro-muscular dystrophy. 2 familial cases
• Synergistic activation of the Mc2r promoter by FOXL2 and NR5A1 in mice
• The blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
• 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?
• The Oncogenic FOXL2 C134W Mutation Is a Key Driver of Granulosa Cell Tumors
• The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
• The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology
• Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?