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Page 1
The Genetics and Biology of FOXL2.
Tucker EJ. Tucker EJ. Sex Dev. 2022;16(2-3):184-193. doi: 10.1159/000519836. Epub 2021 Nov 2. Sex Dev. 2022. PMID: 34727551 Free article. Review.
Consistent with its role in ovarian and eyelid development, over 100 germline variants in FOXL2 are associated with blepharophimosis, ptosis, and epicanthus inversus syndrome in humans, an autosomal dominant condition characterised by ovarian dysgenesis/premature ov …
Consistent with its role in ovarian and eyelid development, over 100 germline variants in FOXL2 are associated with blepharophimosis, ptosis …
Ectropion.
Bedran EG, Pereira MV, Bernardes TF. Bedran EG, et al. Semin Ophthalmol. 2010 May;25(3):59-65. doi: 10.3109/08820538.2010.488570. Semin Ophthalmol. 2010. PMID: 20590414 Review.
Congenital ectropion is rare and it is usually associated with other malformations such as euryblepharon, ptosis, epicanthus inversus, and blepharophimosis syndrome. Involutional ectropion is the most frequent form of acquired eyelid eversion and a result of multipl …
Congenital ectropion is rare and it is usually associated with other malformations such as euryblepharon, ptosis, epicanthus inver …
The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome.
Méjécase C, Nigam C, Moosajee M, Bladen JC. Méjécase C, et al. Genes (Basel). 2021 Mar 4;12(3):364. doi: 10.3390/genes12030364. Genes (Basel). 2021. PMID: 33806295 Free PMC article. Review.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. ...
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants o …
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Strømme P, Sandboe F. Strømme P, et al. Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x. Acta Ophthalmol Scand. 1996. PMID: 8689480 Review.
The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (blepharophimosis), congenital ptosis and epicanthus inversus. The condition may occur either as an autosomal dominant trait (blep …
The blepharophimosis-ptosis-epicanthus inversus syndrome is characterized by shortening of the horizontal orbital fissure (ble …
Genetic diseases affecting the eyelids: what should a clinician know?
Allen RC. Allen RC. Curr Opin Ophthalmol. 2013 Sep;24(5):463-77. doi: 10.1097/ICU.0b013e3283638219. Curr Opin Ophthalmol. 2013. PMID: 23846188 Review.
Based on this classification system the following 10 diseases (the first five manifesting at birth, the last five later in life) are considered more likely to be encountered by the typical oculoplastic surgeon and reviewed in detail: blepharophimosis-ptosis-epicanthus i …
Based on this classification system the following 10 diseases (the first five manifesting at birth, the last five later in life) are conside …
Foxl2 function in ovarian development.
Uhlenhaut NH, Treier M. Uhlenhaut NH, et al. Mol Genet Metab. 2006 Jul;88(3):225-34. doi: 10.1016/j.ymgme.2006.03.005. Epub 2006 May 2. Mol Genet Metab. 2006. PMID: 16647286 Review.
Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an autosomal dominant disease associated with eyelid defects and premature ovarian failure in females. ...
Human patients carrying mutations in the FOXL2 gene display blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), an au …
Genes governing premature ovarian failure.
Dixit H, Rao L, Padmalatha V, Raseswari T, Kapu AK, Panda B, Murthy K, Tosh D, Nallari P, Deenadayal M, Gupta N, Chakrabarthy B, Singh L. Dixit H, et al. Reprod Biomed Online. 2010 Jun;20(6):724-40. doi: 10.1016/j.rbmo.2010.02.018. Epub 2010 Mar 1. Reprod Biomed Online. 2010. PMID: 20382564 Review.
Mutation in these genes may lead to female infertility and are likely to be candidate genes for POF. Recently, association between blepharophimosis-ptosis-epicanthus inversus syndrome type 1 and POF has emerged as a possibility. ...
Mutation in these genes may lead to female infertility and are likely to be candidate genes for POF. Recently, association between blepharop …
FOXL2: a central transcription factor of the ovary.
Georges A, Auguste A, Bessière L, Vanet A, Todeschini AL, Veitia RA. Georges A, et al. J Mol Endocrinol. 2013 Dec 19;52(1):R17-33. doi: 10.1530/JME-13-0159. Print 2014 Feb. J Mol Endocrinol. 2013. PMID: 24049064 Review.
Its germline mutations are responsible for the blepharophimosis ptosis epicanthus inversus syndrome, which includes eyelid and mild craniofacial defects associated with primary ovarian insufficiency. ...
Its germline mutations are responsible for the blepharophimosis ptosis epicanthus inversus syndrome, which includes eyelid and …
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, Ji M, Xu W, Zhang L, Qi M, Shu J. Yu Y, et al. J Ovarian Res. 2021 Oct 28;14(1):143. doi: 10.1186/s13048-021-00900-2. J Ovarian Res. 2021. PMID: 34711234 Free PMC article. Review.
BACKGROUND: FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). While type II BPES solely features eyelid abnormality, type I BPES involves not only eyelid but also ovary, leading to primary ovarian insufficiency (POI) a …
BACKGROUND: FOXL2 mutations in human cause Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). While type II BP …
33 results