Results 61 to 70 of about 55,411 (257)

A case of familial neurofibromatosis in pediatric practice

open access: yesAlʹmanah Kliničeskoj Mediciny, 2018
The article describes a  clinical case of familial neurofibromatosis. Neurofibromatosis type  1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin   +3 more
doaj   +1 more source

Pulmonary hypertension associated with neurofibromatosis type 2

open access: yesPulmonary Circulation, 2021
Although precapillary pulmonary hypertension is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown.
Hirohisa Taniguchi   +9 more
doaj   +1 more source

Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]

open access: yes, 2016
This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core   +1 more source

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

open access: yes, 2018
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep   +2 more
core   +3 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll   +2 more
wiley   +1 more source

Incidental Finding of Isolated Colonic Neurofibroma

open access: yesCase Reports in Gastroenterology, 2013
Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla   +3 more
doaj   +1 more source

Image findings of cranial nerve pathology on [18F]-2- deoxy-D-glucose (FDG) positron emission tomography with computerized tomography (PET/CT): a pictorial essay. [PDF]

open access: yes, 2015
This article aims to increase awareness about the utility of (18)F -FDG-PET/CT in the evaluation of cranial nerve (CN) pathology. We discuss the clinical implication of detecting perineural tumor spread, emphasize the primary and secondary (18)F -FDG-PET/
Muzaffar, Razi   +3 more
core   +1 more source

Maximizing Neurovascular Outcomes of Facial Transplantation: A Comprehensive Review

open access: yesClinical Anatomy, EarlyView.
ABSTRACT Facial transplantation is a division of reconstructive surgery which aims to improve the function and appearance of a face that has endured severe disfigurement. Currently, the face transplant procedure uses allogenic tissue, harvested from a brain‐dead donor, to replace damaged facial components.
Olivia A. James, Faye Bennett
wiley   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death [PDF]

open access: yes, 2019
BACKGROUND: Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas that arise most commonly in the setting of the Neurofibromatosis Type 1 (NF1) cancer predisposition syndrome.
Bu, Xianzhang   +7 more
core   +2 more sources

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