Results 91 to 100 of about 4,213 (222)
Pediatric Blood &Cancer, Volume 72, Issue 8, August 2025.ABSTRACT Background Malignant rhabdoid tumors occasionally develop along cranial nerves, but clinical, histopathological, and molecular features have not been examined in larger series. Procedure We retrospectively interrogated data from the European Rhabdoid Registry, EU‐RHAB, to identify malignant rhabdoid tumors affecting cranial nerves.
Miriam Gruhle +15 more
wiley +1 more source
Radiology Case ReportsSchwannomatosis is a rare neurocutaneous syndrome characterized by the presence of multiple schwannomas along the peripheral nerves, distinctly excluding the vestibular nerves.
Abhikanta Khatiwada +4 more
doaj +1 more source
LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis
BMC Medical Genomics, 2022 Background Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomatosis, but the association ...
Kirsten M. Farncombe +4 more
doaj +1 more source
Fatal Tension Hemothorax Combined with Exanguination: A Rare Complication of Neurofibromatosis [PDF]
, 2019 Neurofibromatosis (NF) is a common autosomal dominant disorder that can be subdivided into type 1, type 2, and schwannomatosis. Patients with NF1 typically develop café-au-lait spots, scoliosis, and benign neurofibromas.
Bidad, Roz, Blohm, Eike, Hall, Caroline
core
TANC1::HTRA1 fusion in schwannomas
Brain Pathology, EarlyView.
Ilay Caliskan +3 more
wiley +1 more source
Quality of Life Outcomes in Vestibular Schwannoma: A Prospective Analysis of Treatment Modalities
The Laryngoscope, Volume 135, Issue 7, Page 2529-2537, July 2025.One of the first prospective cohort studies looks at quality of life (QOL) outcomes for the three main treatment modalities for vestibular schwannoma. In our study, we found comparable long‐term disease‐specific QOL outcomes, which will allow clinicians to more accurately counsel patients before making life‐changing treatment decisions.
A. Hotchkies +14 more
wiley +1 more source
Primary Coenzyme Q10 Deficiency [PDF]
, 2017 open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara +3 more
core
Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas. [PDF]
Cancers (Basel)Simple Summary Vestibular schwannomas are tumors that occur on the nerve responsible for hearing and balance, the vestibulocochlear nerve. These benign tumors may appear on one side (unilateral) or both sides (bilateral), with bilateral cases often ...
Douwes JPJ +5 more
europepmc +2 more sources
NF2 is Essential for Human Endoderm Development
Advanced Science, Volume 12, Issue 17, May 8, 2025.This study demonstrates that NF2, moesin‐ezrin‐radixin like (MERLIN) tumor suppressor (NF2) is essential for human endoderm formation. NF2 knockout human induced pluripotent stem cells fail to form endoderm both in vitro and in vivo due to yes‐associated protein 1 (YAP1) nuclear translocation, redirecting differentiation toward myofibroblast‐like cells.
Minjin Jeong +5 more
wiley +1 more source
22q11.2 deletion syndrome [PDF]
, 2015 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S. +11 more
core +1 more source