Results 81 to 90 of about 30,899,307 (191)

Prevalence of NF1 missense mutations and candidate modifier genes in 12 familial and 15 sporadic spinal neurofibromatosis patients

, 2020
Spinal Neurofibromatosis (SNF) is a specific form of Neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas involving all spinal roots. This feature allows to specifically distinguish SNF from Neurofibromatosis type 1 (NF1), and Multiple
M. Eoli, V. Tritto, M. Marina Melone, C. Schettino, C. Battaglia, V. Saletti, P. Bettinaglio, F. Natacci, R. Bordoni, D. Bianchessi, C. Cesaretti, P. Riva, E. Mangano   +12 more
core   +2 more sources

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Segmental neurofibromatosis and cancer: report of triple malignancy in a woman with mosaic Neurofibromatosis 1 and review of neoplasms in segmental neurofibromatosis [PDF]

, 2016
BackgroundSegmental neurofibromatosis, referred to as mosaic neurofibromatosis 1, patients present with neurofibromas or café au lait macules or both in a unilateral segment of the body.PurposeA woman with segmental neurofibromatosis and triple cancer ...
Cohen, Philip R
core   +1 more source

Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1)

BMC Cancer, 2019
Background NF1(Neurofibromatosis type 1) is an autosomal dominant genetic disorder. Patients with NF1 have an increased risk of developing benign or malignant tumours, such as gastrointestinal stromal tumours (GISTs).
Liang Shang, Zhen Fang, Jin Liu, Fengying Du, Haiyan Jing, Yali Xu, Kangdi Dong, Xiaoman Zhang, Hao Wu, Changqing Jing, Leping Li   +10 more
doaj   +1 more source

Familial paragangliomas

Hereditary Cancer in Clinical Practice, 2006
Paragangliomas are rare tumours of the autonomic nervous system and occur in sporadic and hereditary forms. They are usually benign and have a low mortality. However, they cause significant morbidity related to their mass effect.
Lips CJM, Lentjes EGWM, Höppener JWM, Luijt RB, Moll FL   +4 more
doaj   +1 more source

Hippo Pathway–YAP/TAZ Signaling: Molecular Mechanisms, Biological Function, Diseases, and Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
The Hippo–YAP/TAZ–TEAD pathway integrates mechanical and biochemical cues to govern organ growth, regeneration, cancer, and fibrosis. This review dissects pathway physiology, TEAD structural pharmacology and ligandable pockets, and therapeutic strategies spanning palmitoylation‐pocket inhibitors, PROTAC degraders, and gene/RNA therapies, highlighting ...
Xiaodan Qu, Zhan‐you Wang
wiley   +1 more source

Neurofibromatosis Type 1: Optimizing Management with a Multidisciplinary Approach [PDF]

Shaan Lalvani, Rebecca M Brown Department of Neurology, The Mount Sinai Hospital, New York, NY, USACorrespondence: Rebecca M Brown, MD, PhD, The Mount Sinai Hospital, Department of Neurology, 1216 5th Avenue, New York, NY, 10029, USA, Tel +1 2128248579 ...
Brown RM, Lalvani S
core  

Epilepsy in neurofibromatosis 1

, 2003
Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T2-weighted signal known as unidentified bright objects, and mental retardation or ...
GROSSO, S., BALESTRI, P., CALABRESE, F., FARNETANI, M., MORGESE, G., DI BARTOLO, R., VIVARELLI, R.   +6 more
core   +1 more source

Neurofibromatosis tipo 1

Ateneo
Introducción: La neurofibromatosis tipo 1 o NF1 pertenece al grupo de las Rasopatías que son un grupo de enfermedades que se caracterizan por mutaciones de los genes que codifican de las vías Ras/MAPK, localizado en el cromosoma 17q11.2, provocando un ...
Javier Aquiles Hidalgo Acosta, Wagnner Ariol Intriago Zambrano, Grace Gabriela Loor Ordóñez, Israel Luis Villavicencio Quevedo, Joanna Patricia Moreno Garzón   +4 more
doaj  

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source