The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome

A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome

(2020) Yuan Wang et al.   SCIENCE PROGRESS

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations

(2019) David J. Bunyan et al.   European Journal of Medical Genetics

A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome

(2019) Sahar Parvizi et al.   OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus

(2019) Oscar F. Chacón-Camacho et al.   GENE

A novel FOXL2 mutation in two infertile patients with blepharophimosis–ptosis–epicanthus inversus syndrome

(2019) Jingmei Hu et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

(2018) Lu Zhou et al.   BMC Medical Genetics

A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I

(2018) Fang Li et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Blepharophimosis–ptosis–epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element

(2018) Arjan Bouman et al.   CLINICAL DYSMORPHOLOGY

Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency

(2018) Xiao-Wen Yang et al.   Molecular Genetics & Genomic Medicine

Genomic Disruption of FOXL2 in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation

(2018) Pei-Wei Chai et al.   CHINESE MEDICAL JOURNAL

Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome

(2018) Huiyan Li et al.   Genetic Testing and Molecular Biomarkers

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders

(2017) Rose Richardson et al.   EXPERIMENTAL EYE RESEARCH

Outcomes for severe aponeurotic ptosis using posterior approach white-line advancement ptosis surgery

(2017) Z Antus et al.   EYE

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I

(2017) Peiwei Chai et al.   International Journal of Biological Sciences

Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR

(2017) Lisa M. Pastore et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Identification of a novel FOXL2 mutation in a single family with both types of blepharophimosis- ptosis- epicanthus inversus syndrome

(2017) Lin Yang et al.   Molecular Medicine Reports

Analysis ofFOXL2detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome

(2016) Anna Krepelova et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Impact of FOXL2 mutations on signaling in ovarian granulosa cell tumors

(2016) Dilys T.H. Leung et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A Modified Staged Surgical Intervention for Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

(2015) Xin Song et al.   ANNALS OF PLASTIC SURGERY

Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome

(2015) Min Xue et al.   BMC Medical Genetics

Diminished ovarian reserve, premature ovarian failure, poor ovarian responder—a plea for universal definitions

(2015) J. Cohen et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis–ptosis–epicanthus inversus syndrome

(2015) Nikolaos Settas et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

Blepharophimosis Syndrome With Absent Tear Production

(2015) Jacqueline K. Ng et al.   OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY

Characterization of endocrine features and genotype–phenotypes correlations in blepharophimosis–ptosis–epicanthus inversus syndrome type 1

(2015) S. Nuovo et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Outcomes of posterior-approach ‘levatorpexy’ in congenital ptosis repair

(2014) Zaid AL-Abbadi et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

(2014) Reena Gulati et al.   European Journal of Medical Genetics

Intragenic and extragenic disruptions of FOXL2 mapped by whole genome low-coverage sequencing in two BPES families with chromosome reciprocal translocation

(2014) Yongjia Yang et al.   GENOMICS

Acquired Microcephaly in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Because of an Interstitial 3q22.3q23 Deletion

(2014) Sarah J. Dean et al.   PEDIATRIC NEUROLOGY

A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I

(2013) Alejandro Martinez-Aguayo et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

One-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome using a frontalis muscle transfer technique

(2013) Haipeng Liu et al.   Journal of Plastic Surgery and Hand Surgery

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

(2013) Hannah Verdin et al.   PLoS Genetics

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)

(2012) Kamilla Schlade-Bartusiak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female

(2012) M.J. Alao et al.   European Journal of Medical Genetics

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

(2012) J. Fan et al.   HUMAN REPRODUCTION

Single stage surgery for Blepharophimosis syndrome

(2012) Kasturi Bhattacharjee et al.   INDIAN JOURNAL OF OPHTHALMOLOGY

A One-Stage Correction of the Blepharophimosis Syndrome Using a Standard Combination of Surgical Techniques

(2011) Roberto Sebastiá et al.   AESTHETIC PLASTIC SURGERY

Mutation spectrum of Fork-Head Transcriptional Factor Gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients

(2011) I. Kaur et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

(2011) Stacy Zahanova et al.   CLINICAL DYSMORPHOLOGY

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

(2011) Byung Chan Lim et al.   JOURNAL OF CHILD NEUROLOGY

Microdeletion found by array-CGH in girl with Blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25)

(2011) Cristina González-González et al.   OPHTHALMIC GENETICS

FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

(2010) Wei-De Lin et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Mutation analysis ofFOXL2gene in Chinese patients with premature ovarian failure

(2010) Feng Ni et al.   GYNECOLOGICAL ENDOCRINOLOGY

FOXL2copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

(2010) B. D'haene et al.   HUMAN MUTATION

Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

(2010) J.-Y. Fan et al.   MUTAGENESIS

FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES)

(2010) Jia-Yan Fan et al.   Translational Research

Ovarian reserve screening in infertility: Practical applications and theoretical directions for research

(2009) Eric Scott Sills et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome

(2009) Frederico José Silva Corrêa et al.   FERTILITY AND STERILITY

Identification of a Novel Mutation in FOXL2 Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

(2009) Ibtissem Chouchene et al.   Genetic Testing and Molecular Biomarkers

FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report

(2009) G. Meduri et al.   HUMAN REPRODUCTION

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

(2009) Y. Xu et al.   MUTAGENESIS

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

(2009) Barbara D'haene et al.   PLoS Genetics

Identification of 34 novel and 56 knownFOXL2mutations in patients with blepharophimosis syndrome

(2008) Diane Beysen et al.   HUMAN MUTATION

FOXL2mutations and genomic rearrangements in BPES

(2008) Diane Beysen et al.   HUMAN MUTATION

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Girl with Chromosome Translocation t(2;3)(q33;q23)

(2008) Andreas Tzschach et al.   OPHTHALMIC GENETICS