Results 121 to 130 of about 55,225 (233)

The Dual Role of Autophagy in Cancer: Mechanisms and Therapeutic Strategies

open access: yesMedComm – Oncology, Volume 5, Issue 2, June 2026.
Autophagy is a conserved cellular process degrading dysfunctional organelles and protein aggregates to maintain cell homeostasis, and it exhibits context‐dependent duality in cancer. Autophagy functions as a critical tumor‐suppressive mechanism by preventing DNA damage and mutation during tumor initiation.
Xiang‐Zheng Gao   +4 more
wiley   +1 more source

Macrocephaly in neurofibromatosis type 1: a sign post for optic pathway gliomas? [PDF]

open access: yes, 2018
Purpose: Optic pathway gliomas, which occur in 15-20% of paediatric patients with neurofibromatosis type 1, are the most common central nervous system tumour associated with this neurocutaneous disorder.
Diepold, Miriam   +6 more
core  

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

open access: yesJournal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld   +6 more
wiley   +1 more source

Neurofibromatosis type 1

open access: yes, 2021
null Aditi Venkatesh, MBBS   +1 more
  +5 more sources

CHARACTERISTICS OF INDIVIDUALS UNDERGOING PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS [PDF]

open access: yes, 2018
Background. Currently, there are no genetic testing guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and their relation to genetic contribution.
Azam, Sarah
core   +1 more source

A Comprehensive Review of Traditional and Machine Learning‐Assisted Diffuse Optical Spectroscopy and Imaging Techniques for Dermatological Applications

open access: yesAdvanced Photonics Research, Volume 7, Issue 5, May 2026.
This review critically examines clinical studies on both conventional and machine learning (ML)‐integrated diffuse optical spectroscopy and imaging methods for dermatological applications, with a primary focus on the past decade and inclusion of earlier foundational work where appropriate.
Iftak Hussain   +7 more
wiley   +1 more source

Spontaneous Hemothorax in a Patient with Neurofibromatosis Type 1: A Case Report

open access: yesپزشکی بالینی ابن سینا, 2019
Background: Neurofibromatosis type1 (NF-1) is a hereditary autosomal dominant disease that is accompanied by complications, such as benign and malignant tumors and vascular involvement, including pulmonary hypertension, artery stenosis, and pulmonary ...
Zohreh Kahramfar, Oldooz Aloosh
doaj  

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +1 more source

A Biochemically “Silent” Aortocaval Paraganglioma in a 19‐Year‐Old Female Causing Intraoperative Hypertensive Crisis: A Rare Case Report

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Paragangliomas may appear biochemically silent, yet still behave as functional tumors with severe intraoperative consequences. Normal preoperative catecholamine screening does not exclude the risk of hypertensive crisis during surgery.
Abdul Basit   +5 more
wiley   +1 more source

Multiple Oral and Eyelid Nodules in a Pediatric Patient

open access: yes
Oral Diseases, EarlyView.
Caique Mariano Pedroso   +10 more
wiley   +1 more source

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