Associated Papers
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.
Lin ZB et al.
Bmc Ophthalmology, 2023
Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations.
Meng T et al.
Frontiers in Endocrinology, 2022
Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang Y et al.
Molecular Vision, 2022
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.
Yu Y et al.
Journal of Ovarian Research, 2021
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C et al.
Genes, 2021
Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.
Castets S et al.
Hormone Research in Paediatrics, 2020
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.
Bunyan DJ et al.
European Journal of Medical Genetics, 2019
Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).
Gulati R et al.
European Journal of Medical Genetics, 2014
Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with blepharophimosis syndrome.
Jiang H et al.
Molecular Vision, 2013
Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome.
Zhang L et al.
Molecular Vision, 2013
FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).
Fan JY et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2011
FOXL2 mutations and genomic rearrangements in BPES.
Beysen D et al.
Human Mutation, 2009
The transcription factor FOXL2 in ovarian function and dysfunction.
De Baere E et al.
Folia Histochemica Et Cytobiologica, 2009
FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.
Nallathambi J et al.
Journal of Genetics, 2007
A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.
Nallathambi J et al.
Human Genetics, 2007
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang J et al.
Molecular Vision, 2007
A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.
Caburet S et al.
Journal of Medical Genetics, 2004