Results 11 to 20 of about 635 (159)

FOXL2mutations and genomic rearrangements in BPES [PDF]

Human Mutation, 2009
The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human developmental disorders, often with ocular manifestations. Mutations in FOXL2 are known to cause blepharophimosis syndrome (BPES), an autosomal dominant eyelid malformation associated (type I) or not (type II) with ovarian dysfunction, leading to premature ovarian failure (
Diane, Beysen, Anne, De Paepe, Elfride, De Baere   +2 more
openaire   +3 more sources

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families

Genetics and Molecular Biology, 1998
We have evaluated a girl and a boy with the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). The girl presented cleft palate and the boy showed cleft lip and palate as additional clinical signs.
N.M. Kokitsu-Nakata, A. Richieri-Costa
doaj   +2 more sources

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge

Indian Journal of Ophthalmology, 2016
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus.
Vasudha Kemmanu, Pragnya Rathod, Hemant Anaspure, Naresh K Yadav   +3 more
doaj   +2 more sources

Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

BMC Medical Genetics, 2018
Background Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare inheritable disease that mainly affects eyelid development associated with (type I) or without (type II) ovarian dysfunction, resulting in premature ovarian failure (POF).
Lu Zhou, Jiaqi Wang, Tailing Wang
doaj   +2 more sources

Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome [PDF]

International Journal of Ophthalmology, 2023
AIM: To discover the molecular pathogenic basis of the blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and to predict the clinical subtype according to in vitro experiments, which is significant to the prognosis.
Yu-Cheng Yan, Lu Zhou, Jin-Cai Fan
doaj   +1 more source

How BPE Affects Memorization in Transformers

CoRR, 2021
Training data memorization in NLP can both be beneficial (e.g., closed-book QA) and undesirable (personal data extraction). In any case, successful model training requires a non-trivial amount of memorization to store word spellings, various linguistic idiosyncrasies and common knowledge.
Eugene Kharitonov, Marco Baroni, Dieuwke Hupkes   +2 more
openaire   +3 more sources

Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations

Frontiers in Endocrinology, 2022
ObjectiveTo characterize the status of ovarian reserve and ART outcomes in BPES women and provide informative reference for clinical diagnosis and treatment.MethodsTwenty-one women with BPES were screened for mutations in the FOXL2 gene and underwent ...
Tingting Meng, Tingting Meng, Tingting Meng, Tingting Meng, Tingting Meng, Wenzhe Zhang, Wenzhe Zhang, Wenzhe Zhang, Wenzhe Zhang, Wenzhe Zhang, Rongrong Zhang, Rongrong Zhang, Rongrong Zhang, Rongrong Zhang, Rongrong Zhang, Jie Li, Jie Li, Jie Li, Jie Li, Jie Li, Yuan Gao, Yuan Gao, Yuan Gao, Yuan Gao, Yuan Gao, Yingying Qin, Yingying Qin, Yingying Qin, Yingying Qin, Yingying Qin, Xue Jiao, Xue Jiao, Xue Jiao, Xue Jiao, Xue Jiao, Xue Jiao   +35 more
doaj   +1 more source

Outcomes of periodontal therapy: Strengthening the relevance of research to patients. A co‐created review

Periodontology 2000, EarlyView., 2023
Abstract Periodontitis is a long‐term condition affecting up to half of the population globally and causing significant impacts on life quality. Successful management depends on taking life‐long ownership of the condition by those affected. There is a wealth of research to inform on management options. However, most of the research has been designed by
Ian Needleman, Neil Almond, Natalie Leow, Jim Phillips   +3 more
wiley   +1 more source

Identification of copy number variants associated with BPES-like phenotypes [PDF]

, 2008
Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a well-characterized rare syndrome that includes an eyelid malformation associated with (type I) or without premature ovarian failure (type II).
Elfride De Baere, Claudia A. L. Ruivenkamp, De Baere, Elfride, Ruivenkamp, Claudia A. L., Witt, David R., Bart Loeys, van Essen, Ton, Marcel Mannens, Albrecht, B, D'haene, Barbara, Ruivenkamp, CAL, Bakker, Egbert, David R. Witt, Martijn H. Breuning, Breuning, Martijn H., Melissa K. Maisenbacher, Maisenbacher, Melissa K., Loeys, Bart, Yvonne Hilhorst-Hofstee, Beate Albrecht, Hennekam, Raoul, Hennekam, R, Joerg Seidel, Maisenbacher, MK, Egbert Bakker, Witt, DR, Breuning, MH, Hilhorst-Hofstee, Yvonne, Mannens, Marcel, van Essen, T, Seidel, Joerg, Gijsbers, ACJ, Bakker, E, Antoinet C. J. Gijsbers, Mannens, M, Albrecht, Beate, Seidel, J, Raoul Hennekam, Hilhorst-Hofstee, Y, Ton van Essen, Gijsbers, Antoinet C. J., Barbara D’haene   +41 more
core   +1 more source

Synbiotic-like effect of linoleic acid overproducing Lactobacillus casei with berry phenolic extracts against pathogenesis of enterohemorrhagic Escherichia coli

Gut Pathogens, 2019
Background Majority of enteric infections are foodborne and antimicrobials including antibiotics have been used for their control and treatment. However, probiotics or prebiotics or their combination offer a potential alternative intervention strategy ...
Zajeba Tabashsum, Mengfei Peng, Cassendra Bernhardt, Puja Patel, Michael Carrion, Debabrata Biswas   +5 more
doaj   +1 more source