Results 51 to 60 of about 1,956 (168)

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk

open access: yesPediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark   +7 more
wiley   +1 more source

Low back pain with axillary mass in a perimenopausal woman: A case of schwannomatosis mimicking metastasis

open access: yesRadiology Case Reports
Schwannomatosis 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

TANC1::HTRA1 fusion in schwannomas

open access: yes
Brain Pathology, Volume 36, Issue 5, September 2026.
Ilay Caliskan   +3 more
wiley   +1 more source

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

open access: yesAnnals of Neurology, Volume 99, Issue 2, Page 369-381, February 2026.
[Color figure can be viewed at www.annalsofneurology.org] rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury.
Julia P. Bischoff   +7 more
wiley   +1 more source

Segmental schwannomatosis: characteristics in 12 patients

open access: yesOrphanet Journal of Rare Diseases, 2019
Background Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature.
Abdulqader Alaidarous   +5 more
doaj   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

open access: yesAnnals of Neurology, Volume 99, Issue 1, Page 73-83, January 2026.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek   +7 more
wiley   +1 more source

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

open access: yesActa Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney   +2 more
wiley   +1 more source

Schwannoma Within a Muscular Nerve Branch to the Medial Head of Triceps: A Case Report

open access: yesCase Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Introduction and Importance Schwannomas are rare, benign, encapsulated tumours arising within peripheral nerve sheath Schwann cells. Only 19% of schwannomas occur in the upper limb, typically affecting major peripheral nerves on the flexor aspect distal to the elbow.
Jacobus Potgieter   +3 more
wiley   +1 more source

A Schwannoma in the Anterior Orbit: Case Report and Literature Review

open access: yesCase Reports in Ophthalmological Medicine, Volume 2026, Issue 1, 2026.
Introduction Orbital schwannoma is a rare tumor that can occur in any orbital compartment, posing a diagnostic challenge for clinicians. Case Presentation We report a 35‐year‐old male who presented with a visible schwannoma in the inferomedial orbital angle. Our patient was treated with en bloc transconjunctival surgical resection without complications.
Bassam Alobaid   +2 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for histopathology

open access: yes
Histopathology, Volume 88, Issue 7, Page 1291-1294, June 2026.
Ian A Cree   +18 more
wiley   +1 more source

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