Results 91 to 100 of about 635 (159)
FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report
, 2010 FOXL2 mutations cause the autosomal dominant Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) that may be associated with premature ovarian failure (POF).
Bachelot, A +8 more
core +1 more source
Waardenburg or Blepharophimosis ptosis epicanthus inversus syndrome? – An enigmatic riddle
Kerala Journal of OphthalmologyWaardenburg syndrome (WS) is a genetic disorder that may be discernible right at birth. The syndrome is well known to have heterogeneous expression; the range, and severity of which may vary greatly from case to case, even among the individuals of the ...
Deepsekhar Das +4 more
doaj +1 more source
A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I
Cellular Physiology and Biochemistry, 2018 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 (type II) with ...
Fang Li +9 more
doaj +1 more source
BJU International, Volume 138, Issue 4, Page 537-548, October 2026.Objective To systematically evaluate the efficiency and safety of different prostate morcellators used during prostate enucleation for benign prostatic hyperplasia (BPH). Methods A systematic review was performed according to the Preferred Reporting Items for Systematic Review and Meta‐analyses guidelines.
Stessy Kutchukian +8 more
wiley +1 more source
Journal of Radiological ProtectionAbstract Borated polyethylene (PE) is an effective neutron moderator and absorber in medical linear accelerator shielding; however, there is limited data regarding the required material thickness for adequate neutron attenuation.
M Bellamy +6 more
openaire +2 more sources
Trends in kidney stone disease: a 5‐year update of stone management in England and Scotland
BJU International, Volume 138, Issue 4, Page 620-629, October 2026.Objectives To describe contemporary trends in kidney stone disease (KSD)‐related inpatient episodes, procedures, and costs in England and Scotland, with emphasis on post‐coronavirus disease 2019 (COVID‐19) service recovery, socioeconomic variation in Scotland, comparison with other urological procedures, and 10‐year healthcare demand and cost ...
Catherine E. Lovegrove +4 more
wiley +1 more source
Bilateral Fist Lid-Lift: A Novel Compensatory Behavior in an Infant with Blepharophimosis Syndrome
ChildrenBackground/Objectives: To describe a previously unreported compensatory behavior used by an infant with severe bilateral congenital ptosis associated with blepharophimosis syndrome (BPES). Methods: Observational case report of a 4.5-month-old infant with
Biljana Kuzmanović Elabjer +5 more
doaj +1 more source
Genetic analysis of a five generation Indian family with BPES: A novel missense mutation (p.Y215C)
, 2004 Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare eye genetic disorder caused by mutations in the FOXL2 gene located at chromosome 3q23.
Kumar, Arun +3 more
core
A rare case of adult-onset blepharophimosis, ptosis, and epicanthus inversus syndrome: Case report [PDF]
, 1970 Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic condition caused by a mutation in the FOXL2 gene and it is inherited in an autosomal dominant pattern.
S, Mahesha +2 more
core +1 more source
Ophthalmology and TherapyIntroduction Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare congenital eyelid disorder that leads to drooping eyelids, narrowing of the palpebral fissures, and a characteristic facial appearance.
Julia Wojciechowska +6 more
doaj +1 more source