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Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population.
Chawla B, Bhadange Y, Dada R, Kumar M, Sharma S, Bajaj MS, Pushker N, Chandra M, Ghose S. Chawla B, et al. Invest Ophthalmol Vis Sci. 2013 Apr 26;54(4):2985-91. doi: 10.1167/iovs.13-11794. Invest Ophthalmol Vis Sci. 2013. PMID: 23513057
PURPOSE: To study the clinical, radiologic, and genetic features in Indian Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) patients. ...
PURPOSE: To study the clinical, radiologic, and genetic features in Indian Blepharophimosis, ptosis, and epicanthus …
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, Thomas NS. Bunyan DJ, et al. Eur J Med Genet. 2019 Jul;62(7):103668. doi: 10.1016/j.ejmg.2019.05.007. Epub 2019 May 8. Eur J Med Genet. 2019. PMID: 31077882
Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome (BPES) is caused by autosomal dominant mutations in FOXL2. ...
Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome (BPES) is caused by autosomal dominant …
The developmental expression of foxl2 in the dogfish Scyliorhinus canicula.
Wotton KR, French KE, Shimeld SM. Wotton KR, et al. Gene Expr Patterns. 2007 Aug;7(7):793-7. doi: 10.1016/j.modgep.2007.05.003. Epub 2007 May 26. Gene Expr Patterns. 2007. PMID: 17591462
The FoxL2 genes are a subfamily of the Fox (forkhead box) gene family. FOXL2 is mutated in the disorder Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES), which is characterized by eyelid malformations, and Premature Ovari …
The FoxL2 genes are a subfamily of the Fox (forkhead box) gene family. FOXL2 is mutated in the disorder Blepharophimosis, Ptosis …
Blepharophimosis: a recommendation for early surgery in patients with severe ptosis.
Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Beckingsale PS, et al. Clin Exp Ophthalmol. 2003 Apr;31(2):138-42. doi: 10.1046/j.1442-9071.2003.00621.x. Clin Exp Ophthalmol. 2003. PMID: 12648048
METHODS: The study was a retrospective case series of 28 patients with blepharophimosis, ptosis and epicanthus inversus syndrome presenting to a tertiary referral eyelid, lacrimal and orbital clinic. ...
METHODS: The study was a retrospective case series of 28 patients with blepharophimosis, ptosis and epicanthus …
Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).
González-González C, García-Hoyos M, Hernaez Calzón R, Arroyo Díaz C, González Fanego C, Lorda Sánchez I, Sánchez-Escribano F. González-González C, et al. Ophthalmic Genet. 2012 Jun;33(2):107-10. doi: 10.3109/13816810.2011.634879. Epub 2011 Dec 15. Ophthalmic Genet. 2012. PMID: 22171663
BACKGROUND: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal dominant congenital disorder. ...
BACKGROUND: Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is a rare autosomal d …
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM. Ferraris A, et al. Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75. Orphanet J Rare Dis. 2013. PMID: 23679990 Free PMC article.
In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to …
In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepha …
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P, Verebi C, Hervé B, Perol S, Chakhtoura Z, Courtillot C, Bachelot A, Karila D, Renard C, Grouthier V, de la Croix SM, Bernard V, Fouveaut C, de la Perrière AB, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, Christin-Maitre S, Bienvenu T. Jordan P, et al. Clin Genet. 2024 Jul;106(1):102-108. doi: 10.1111/cge.14526. Epub 2024 Apr 1. Clin Genet. 2024. PMID: 38558253
Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. ...
Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus I …