Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Intraocular lens exchange for vision-dependent vestibular disorder after cataract surgery: A case report. [PDF]
Am J Ophthalmol Case RepMorii K, Akashi A.
europepmc +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao +9 more
wiley +1 more source
Abnormal Congenital Pigmentation of One Eye [PDF]
Proceedings of the Royal Society of Medicine, 1910 openaire +2 more sources
Lipemic Aqueous Humor in Hyperlipidemia and Diabetes Mellitus: A Case Report. [PDF]
Case Rep Ophthalmol MedWu J, Ying J, Zhu Y, Li J.
europepmc +1 more source
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Longitudinal Multimodal Imaging Findings Following Inadvertent 577 nm Laser Backscatter Exposure During Panretinal Laser Photocoagulation. [PDF]
J Vitreoretin DisCorpuz E +4 more
europepmc +1 more source
Auditory Stimulation of Slow‐Wave Sleep Promotes Recovery after Brain Injury in an Animal Model
Annals of Neurology, EarlyView.Objective Traumatic brain injury (TBI) significantly reduces the quality of life for millions of survivors worldwide, causing persistent brain tissue damage and cognitive impairments, with no established therapeutic interventions currently available.
Carlos G. Moreira +9 more
wiley +1 more source
A novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review. [PDF]
Medicine (Baltimore)Li Z, Ke S, Wan W, Sun J, Hu K, Li C.
europepmc +1 more source