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Quoted phrase not found in phrase index: "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"
Page 1
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I.
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X. Li F, et al. Cell Physiol Biochem. 2018;45(1):203-211. doi: 10.1159/000486358. Epub 2018 Jan 15. Cell Physiol Biochem. 2018. PMID: 29339661 Free article.
BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not ( …
BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant …
Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F. Nuovo S, et al. J Endocrinol Invest. 2016 Feb;39(2):227-33. doi: 10.1007/s40618-015-0334-3. Epub 2015 Jun 23. J Endocrinol Invest. 2016. PMID: 26100530
OBJECTIVE: Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian f …
OBJECTIVE: Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the F …
Deletion of cis-regulatory Element in FOXL2 Promoter in a Chinese Family of Type II Blepharophimosis-ptosis-epicanthus Inversus Syndrome with Polydactyly.
Shen Q, Zhao X, Ji Y, Chai P. Shen Q, et al. J Craniofac Surg. 2024 Jan-Feb 01;35(1):e52-e56. doi: 10.1097/SCS.0000000000009801. Epub 2023 Nov 8. J Craniofac Surg. 2024. PMID: 37938073 Free PMC article.
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a relatively uncommon autosomal-dominant genetic disorder, primarily attributed to mutations in the forkhead box L2 (FOXL2) gene. ...The luciferase reporter assay was performed to id …
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a relatively uncommon autosomal-dominant g …
A novel FOXL2 mutation in two infertile patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Hu J, Ke H, Luo W, Yang Y, Liu H, Li G, Qin Y, Ma J, Zhao S. Hu J, et al. J Assist Reprod Genet. 2020 Jan;37(1):223-229. doi: 10.1007/s10815-019-01651-2. Epub 2019 Dec 10. J Assist Reprod Genet. 2020. PMID: 31823134 Free PMC article.
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare, autosomal dominant disease. There are two clinical types of BPES: type I patients have eyelid abnormalities accompanied by infertility in affected females, …
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare, autosomal dominant dis …
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.
Alao MJ, Lalèyè A, Lalya F, Hans Ch, Abramovicz M, Morice-Picard F, Arveiler B, Lacombe D, Rooryck C. Alao MJ, et al. Eur J Med Genet. 2012 Nov;55(11):630-4. doi: 10.1016/j.ejmg.2012.07.005. Epub 2012 Aug 3. Eur J Med Genet. 2012. PMID: 22906557
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose main features are the abnormal shape, position and alignment of the eyelids. Type I refers to BPES with female infertility from premat …
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder whose m …
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Tzschach A, Kelbova C, Weidensee S, Peters H, Ropers HH, Ullmann R, Erdogan F, Jurkatis J, Menzel C, Kalscheuer V, Demuth S. Tzschach A, et al. Ophthalmic Genet. 2008 Mar;29(1):37-40. doi: 10.1080/13816810701867615. Ophthalmic Genet. 2008. PMID: 18363172
We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congen …
We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus …
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.
De Baere E, Fukushima Y, Small K, Udar N, Van Camp G, Verhoeven K, Palotie A, De Paepe A, Messiaen L. De Baere E, et al. Genomics. 2000 Sep 15;68(3):296-304. doi: 10.1006/geno.2000.6304. Genomics. 2000. PMID: 10995571
The blepharophimosis syndrome (BPES) is a rare genetic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus. In type I, BPES is associated with female infertility, while in type II, the eyelid de …
The blepharophimosis syndrome (BPES) is a rare genetic disorder characterized by blepharophimosis, ptosis, epicanthu …
A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid.
Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. Kosaki K, et al. Ophthalmic Genet. 2002 Mar;23(1):43-7. doi: 10.1076/opge.23.1.43.2202. Ophthalmic Genet. 2002. PMID: 11910558
Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characterized by abnormalities of the eyelids. ...Further work is required to clarify whether ovarian function can be predicted on the basis of …
Blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) is an autosomal dominant disorder characteriz …