• <em>MED12</em>-Related Disorders
• A clinical dilemma: the potential use of egg freezing to preserve fertility in a young patient at risk of developing premature ovarian failure
• A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q
• A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I
• A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome
• 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
• A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction
• Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
• 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 syndrome (BPES)
• 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, 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
• Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene
• Clinical analysis of four patients with Schwartz-Jampel syndrome
• Clinical and demographic characteristics of ptosis in children: a national tertiary hospital study
• Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
• Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
• 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
• De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome
• 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)
• Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins
• Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome
• Forkhead l2 is expressed in the ovary and represses the promoter activity of the steroidogenic acute regulatory gene
• FOXL2 impairment in human disease
• FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells
• FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
• FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)
• Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
• Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family
• Genes governing premature ovarian failure
• Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
• Genetic diseases affecting the eyelids: what should a clinician know?
• Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2
• 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 a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family
• 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
• 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
• LATS1 phosphorylates forkhead L2 and regulates its transcriptional activity
• Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome
• Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings
• Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain
• 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
• Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
• Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
• Notch gain of function in mouse periocular mesenchyme downregulates FoxL2 and impairs eyelid levator muscle formation, leading to congenital blepharophimosis
• Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome
• Orbitoblepharophimosis syndrome--own clinical experience in treatment of 60 patients
• 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
• Refined genetic and physical mapping of BPES type II
• Schwart-Jampel osteo-chondro-muscular dystrophy. 2 familial cases
• Synergistic activation of the Mc2r promoter by FOXL2 and NR5A1 in mice
• The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type
• The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance
• 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?