Results 1 to 10 of about 24,332 (187)

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report [PDF]

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung, Qais Karimi, Lan Kluwe, Said C. Farschtschi   +3 more
doaj   +2 more sources

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. [PDF]

PLoS Genetics
Identifying genes associated with rare diseases remains challenging due to the scarcity of patients and the limited statistical power of traditional association methods. Here, we introduce PERADIGM ( Phenotype Embedding similarity-based RAre DIsease Gene
Wangjie Zheng, Yuhan Xie, Jianlei Gu, Hongyu Li, Stefan Somlo, Whitney Besse, Hongyu Zhao   +6 more
doaj   +2 more sources

Neurofibromatosis type 1: a single center's experience in Korea [PDF]

Korean Journal of Pediatrics, 2014
PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system.
Min Jeong Kim, Chong Kun Cheon
doaj   +1 more source

Clinical Masks of Neurofibromatosis Type 1

Архивъ внутренней медицины, 2022
Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
doaj   +1 more source

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report

BMC Pediatrics, 2023
Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively.
Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz   +11 more
doaj   +1 more source

MEK inhibitors - novel targeted therapies of neurofibromatosis associated benign and malignant lesions

Biomarker Research, 2021
MAP/ERK kinase 1 and 2 (MEK 1/2) inhibitors (MEKi) are investigated in several trials to treat lesions that arise from pathogenic variants of the Neurofibromatosis type 1 and type 2 genes (NF1, NF2).
Anja Harder
doaj   +1 more source

Neuroibromatosis tipo l: relación genotipo-fenotipo

Acta Neurológica Colombiana, 2020
INTRODUCCIÓN: La neurofibromatosis (enfermedad de von Recklinghausen) es una enfermedad autosómica dominante que presenta principalmente manifestaciones cutáneas y neurológicas.
Mariana Teresa Gómez-López, Juan Sebastián Botero-Meneses, Luis Octavio Tierradentro-García, Alberto Vélez-van-Meerbeke   +3 more
doaj   +1 more source

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]

, 2020
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J, Baker, Aaron, Banerjee, Jineta, Blakeley, Jaishri O, Gosline, Sara Jc, Greene, Casey S, Guinney, Justin, Hirbe, Angela, Moon, Chang In, Pratilas, Christine A, Taroni, Jaclyn N, Zhang, Xiaochun   +11 more
core   +2 more sources

Evaluation of Neurofibromatosis Gene Expression in Non-Hereditary Breast Cancer

Novelty in Biomedicine, 2023
Background: Breast cancer is the most common cause of death in women. Studies have shown that changes in neurofibromatosis gene expression can cause breast cancer.
Mahsa Kavousi, Fatemeh Smailzadeh, Jalil Fallah Mehrabadi, Lobat Geranpayeh   +3 more
doaj   +1 more source

Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype

Cell Death and Disease, 2021
Neurofibromatosis type 1 (NF1), an autosomal dominant and multisystem disorder, is generally considered to be caused by NF1 inactivation. However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the ...
Zhuanli Bai, Yiping Qu, Lin Shi, Xinju Li, Zhen Yang, Meiju Ji, Peng Hou   +6 more
doaj   +1 more source