Results 81 to 90 of about 27,277 (291)

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

CEREBELLAR LIPONEUROCYTOMA IN THE LAST DECADE: A COMPREHENSIVE CASE REVIEW

Introduction. Tumors of the central nervous system (CNS) are relatively uncommon when compared with neoplasms arising in other organs and tissues of the human body.
Jan Tomczyk, Mathias Spitaleri, Marcin Narloch, Mateusz Jasiński, Kamila Mozga, Julia Czerwik, Karol Kanon, Oskar Sienkiel, Dawid Sewruk, Aleksandra Żywicka, Michał Szalach   +10 more
core   +1 more source

Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome

, 2021
Noonan syndrome (NS) is an autosomal dominant disease caused by aberrant up-regulated signaling through RAS GTPase. It is characterized by facial dysmorphisms, short stature, congenital heart defects, malformations of rib cage bones, bleeding problems ...
D’Amico, Alessandra, Falco, Mariateresa, Ugga, Lorenzo, Melis, Daniela, D'Amico, Alessandra, Cipullo, Maria Brunella   +5 more
core   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

A Rare Case of Corpus Callosum Lipoma with Corpus Callosum Dysgenesis and Subcutaneous Lipoma [PDF]

Journal of Medical Academics
Background: Uncommon neoplasms seen within the brain include corpus callosum lipoma and pericallosal lipoma. Their percentage of all cerebral tumor lesions is
Tooba Maryam, Aditya G Raju, Harshit Bhargava, Mohd Faizan   +3 more
doaj   +1 more source

CONCERNING THE CLINICO-EEG CHARACTERISTICS OF CEREBELLAR NEOPLASMS IN CHILDHOOD

, 2017
No ...
Minchev, D., Havezova, L.
core   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Partial hearing recovery after cochlear nerve surface transplantation of hair follicle‐derived neural crest stem cells in neural hearing loss rat

Animal Models and Experimental Medicine, EarlyView.
This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen, Yunlong Zhang, Huanzhi Wan, Bingqian Yang, Tianyi Liu, Jie Wang, Hua Liao, Yuanyuan Zhang, Zhijian Zhang, Qingquan Hua   +9 more
wiley   +1 more source

Clinicopathological features of cerebellar lipidized medulloblastoma: a case report and review of literatures

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To explore the clinicopathological features of cerebellar lipidized medulloblastoma. Methods The clinical manifestations， neuroimaging, histopathological and immunohistochemical features were analysed in one case of lipidized medulloblastoma in
Li⁃yan LIU, Xing⁃fu WANG, Sheng ZHANG, Yu⁃peng CHEN, Zan LI   +4 more
doaj  

Postinfectious coronavirus disease 2019 hemorrhagic cerebellitis: Illustrative case

, 2022
Background: Conditions that can mimic posterior fossa tumors are rare. Their identification is crucial to avoid unnecessary surgical intervention, especially when prompt initiation of medical therapy is critical.
Eric K. H. Chow, Ruge, John, Chow, Eric K. H., John Ruge, Rabin, Barry M, Rabin, Barry M., Chow, Eric K, Barry M. Rabin   +7 more
core   +1 more source