Results 51 to 60 of about 65,918 (263)
Ceramide is a Mediator of Apoptosis in Retina Photoreceptors [PDF]
, 2006 PURPOSE. The precise mechanisms involved in photoreceptor apoptosis are still unclear. We here investigated the role of ceramide, a sphingolipid precursor that induces apoptosis upon cellular stress, in activating this death in photoreceptors.
Abrahan, Carolina Elizabeth +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Managing Marcus Gunn Ptosis - Our Approach
Delhi Journal of Ophthalmology, 2017 Marcus Gunn ptosis is a congenital synkinetic ptosis due to an abnormal innervation of the levator muscle. Aim of the surgical treatment is to eliminate jaw winking phenomenon and correct ptosis. Moderate to severe jaw winking ptosis is best corrected by
A. K. Grover, Shaloo Bageja
doaj +1 more source
Total Upper Eyelid Reconstruction with Modified Cutler-Beard Procedure Using Autogenous Auricular Cartilage [PDF]
Journal of Clinical and Diagnostic Research, 2016 Introduction: Malignant tumour in upper lid is a surgical challenge to oculoplastic surgeon. Full thickness defect created after removal of large tumour promptly treated with modified cutler beard procedure using autogenous auricular cartilage ...
Salil Kumar Mandal +3 more
doaj +1 more source
Disturbances in ocular sympathetic function and facial blood flow in unilateral migraine headache [PDF]
, 1990 The relationship between thermographic asymmetry in various parts of the face and indices of ocular sympathetic outflow was examined in 80 patients with unilateral migrainous headache.
Drummond, P.D.
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
Enhanced Tissue Integration During Cartilage RepairIn VitroCan Be Achieved by Inhibiting Chondrocyte Death at the Wound Edge [PDF]
, 2009 Objective: Experimental wounding of articular cartilage results in cell death at the lesion edge. The objective of this study was to investigate whether inhibition of this cell death results in enhanced integrative cartilage repair.
Archer, Charles W. +7 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Marcus Gunn Jaw Winking Phenomenon - A case of the widening eye [PDF]
, 2009 Marcus Gunn jaw winking phenomenon is a congenital synkinetic movement due to synkinesis between the upper eyelid and the pterygoids and it accounts for 8% of patients with congenital ptosis. In rare instances, ptosis may be absent.
Bhat, KG, Karanth, A
core +1 more source