Results 21 to 30 of about 4,918 (168)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

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, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Cavum Septum Pellucidum Epidermoid- An Extremely rare occurrence

, 2018
Supratentorialintraventricularepidermoids are very rare and midline septal pellucidal epidermoids are even more uncommon with only one case being reported in available literature.
Raghavendra Chalikwar, Anita Mahadevan, Sampath Somanna, Dwarakanath Srinivas   +3 more
core   +1 more source

Production of 3D printed biomodels of the canine brain for veterinary neuroanatomy teaching

Anatomical Sciences Education, EarlyView.
Abstract Teaching neuroanatomy presents multiple challenges to both students and teachers, as it is a subject with highly dense content that commonly causes the development of aversion by students, a phenomenon referred to as “neurophobia,” which has been documented in human and veterinary medicine students.
João Victor Barbosa Tenório Fireman, Antônio Chaves de Assis Neto   +1 more
wiley   +1 more source

Cavum septum pellucidum in monozygotic twins discordant for combat exposure: relationship to posttraumatic stress disorder

, 2016
Background Abnormally large cavum septum pellucidum has been reported in posttraumatic stress disorder; however, the origin of this association is uncertain.
Chen, Q.Cece, May, Flavia S, Gilbertson, Mark, Shenton, Martha, Pitman, Roger   +4 more
core   +1 more source

From anthelmintic to neuro‐oncology: A systematic review of mebendazole repurposing for brain tumour therapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Mebendazole (MBZ), a benzimidazole anthelmintic with established clinical use, has emerged as a repurposing candidate for primary brain tumours due to its multimodal anticancer actions and central nervous system penetrance. This systematic review synthesizes preclinical and clinical evidence evaluating MBZ's efficacy, mechanisms of action ...
Ciara B. Blum, Milli McMenamin, Tessa Khoo, John M. Edwin, Prathibha Jose, Liam A. O’Callaghan   +5 more
wiley   +1 more source

Neuroanatomical and functional correlates in borderline personality disorder: A narrative review

Ibrain, Volume 11, Issue 1, Page 19-31, Spring 2025.
Borderline personality disorder (BPD) is considered a dysfunctional, stable, and pervasive alteration in personality functioning with the inability to adapt to the environment, mental rigidity, and ego‐syntonic, and like all personality disorders is a consistent pattern of inner experience and behavior that deviates markedly from the expectations of ...
Giulio Perrotta
wiley   +1 more source

CYST OF SEPTUM PELLUCIDUM IN MENTAL DISORDERS: SCHIZOPHRENIA AND MENTAL RETARDATION: TWO CASEREPORTS

, 2022
A septum pellucidum cyst is defined as a fluid collection between the lateral ventricles whose walls have a lateral curvature and are separated by 10 mm or more .
Omaima Belakbir , Hajar Habbat , Kenza Hajjami , Siham Belbachir and Abderrazzak Ouanass
core   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source