Results 161 to 170 of about 89,450 (348)
A ptosis repair of aponeurotic defects by the posterior approach. [PDF]
, 1979 J. R. O. Collin
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Constitutively Active Galpha q and Galpha 13 Trigger Apoptosis through Different Pathways [PDF]
, 1997 We investigated the effect of expression of constitutively active Galpha mutants on cell survival. Transfection of constitutively active Galphaq and Galpha13 in two different cell lines caused condensation of genomic DNA and nuclear fragmentation ...
Althoefer, Henning +2 more
core
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, Volume 12, Issue 7, Page 1465-1479, July 2025.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Inverse marcus gunn phenomenon
Indian Journal of Ophthalmology, 2002 Inverse Marcus-Gunn phenomenon is very rare. It is usually acquired.
Prakash M +5 more
doaj
Pupillary constriction and ptosis following caudal epidural analgesia [PDF]
, 1975 Jag Mohan, John Potter
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Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown +6 more
wiley +1 more source
The contralateral upper eyelid in ptosis: some observations pertinent to ptosis corrective surgery. [PDF]
, 1979 H K Mehta
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Stimulation of microglial metabotropic glutamate receptor mGlu2 triggers tumor necrosis factor alpha-induced neurotoxicity in concert with microglial-derived fas ligand [PDF]
, 2005 Activated microglia may be detrimental to neuronal survival in a number of neurodegenerative diseases. Thus, strategies that reduce microglial neurotoxicity may have therapeutic benefit.
Jones, F +3 more
core
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa +3 more
wiley +1 more source