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64 results

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Page 1
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 …
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W, Ke H, Tang S, Jiao X, Li Z, Zhao S, Zhang F, Guo T, Qin Y. Luo W, et al. J Ovarian Res. 2023 Feb 15;16(1):39. doi: 10.1186/s13048-023-01104-6. J Ovarian Res. 2023. PMID: 36793102 Free PMC article.
FOXL2 harbored the highest occurrence frequency (3.2%, 16/500), among whom presented with isolated ovarian insufficiency instead of blepharophimosis-ptosis-epicanthus inversus syndrome. Moreover, luciferase reporter assay confirmed variant p.R349G, which account for …
FOXL2 harbored the highest occurrence frequency (3.2%, 16/500), among whom presented with isolated ovarian insufficiency instead of blepharo …
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 …
Blepharophimosis-ptosis-epicanthus inversus syndrome.
Graziadio C, de Moraes FN, Rosa RF, Zen PR, Travi GM, Waldman C, Medina CT, De Baere E, Paskulin GA. Graziadio C, et al. Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x. Pediatr Int. 2011. PMID: 21696507 No abstract available.
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 …
Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.
Jamshidian-Tehrani M, Cheraqpour K, Nezamslami A. Jamshidian-Tehrani M, et al. Orbit. 2023 Apr;42(2):196-200. doi: 10.1080/01676830.2021.1980892. Epub 2021 Sep 23. Orbit. 2023. PMID: 34555988
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a congenital eyelid syndrome. ...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a congenital eyelid syndrome. ...
Clinical and genetic studies of 17 Han Chinese pedigrees and 31 sporadic patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Wang Y, Wu Q, Cao W, Huang L, Liu W, Li C, Li N. Wang Y, et al. Mol Vis. 2022 Oct 6;28:352-358. eCollection 2022. Mol Vis. 2022. PMID: 36338666 Free PMC article.
PURPOSE: To investigate the molecular pathogenesis of a large group of Han Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), and to evaluate the correlation between the phenotype and genotype for these patients. ...
PURPOSE: To investigate the molecular pathogenesis of a large group of Han Chinese patients with blepharophimosis-ptosis-epicanthus …
64 results