Results 41 to 50 of about 219,745 (248)
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Medial transposition of a split lateral rectus muscle for complete oculomotor nerve palsy [PDF]
, 2013 PurposeTo evaluate the effect on ocular alignment of Y splitting the lateral rectus muscle and then reattaching the 2 ends near the medial rectus muscle insertion in patients with complete oculomotor nerve palsy.MethodsAll eyes with oculomotor nerve ...
Akar, Serpil +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas +9 more
wiley +1 more source
Journal of the Egyptian Ophthalmological Society, 2020 Background There is an ongoing need to move toward sutureless surgery with less surgical manipulations, while maintaining the same results achieved by conventional surgery.
Mohamed H Elkhawaga +3 more
doaj +1 more source
International Forum of Allergy &Rhinology, EarlyView.Key Points Zygomaticotemporal (ZTN) and lacrimal nerves (LN) both carried sympathetics and parasympathetics ZTNs had more parasympathetics than LNs, but markers varied significantly within and between nerves LN parasympathetics to the lacrimal gland may mitigate dry eye after vidian ...
Bushra Rahman +8 more
wiley +1 more source
The eye in lock-down: An unusual acquired restrictive strabismus
Indian Journal of Ophthalmology. Case Reports, 2022 We report a rare case of a 3-year-old female child with a severe degree of hypotropia and esotropia of the left eye secondary to presumed myositis from unknown etiology treated with systemic steroids.
Manjushree Bhate +3 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.A refined murine model of advanced ovarian cancer was established by comparing localized preperitoneal implantation and intraperitoneal injection of OVCAR‐3Luc cells. While localized implantation showed limited tumor persistence, intraperitoneal delivery with BME produced sustained diffuse dissemination confirmed by BLI and histology, providing a ...
M. Teresa Perelló‐Trias +5 more
wiley +1 more source
Advances in Oral and Maxillofacial Surgery, 2021 Entrapment of the oculomotor muscles in orbital fractures is a known and feared complication. Their diagnosis is clinical, helped by morphological investigations.
Idani Motandi +7 more
doaj +1 more source
Cortical Thickness and White Matter Surface Morphology in Tourette Syndrome: A Cohort Study
Annals of Neurology, EarlyView.Objective To examine cortical thickness and white matter surface morphology in a large sample of individuals with Tourette syndrome (TS) and neurotypical controls across the lifespan, and to assess associations with symptom severity, comorbidities, and medication use.
Sahar Delavari +8 more
wiley +1 more source
Unilateral and bilateral medial rectus recession in Graves' Orbitopathy patients
, 2014 PURPOSE: To evaluate the effect of uni- and bilateral medial rectus recession on squint angle and ductions in Graves' Orbitopathy (GO) patients. DESIGN: Retrospective case series.
Jellema, Hinke Marijke +6 more
core +1 more source