Results 1 to 10 of about 24,558 (240)

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

A conserved circadian function for the Neurofibromatosis 1 gene [PDF]

Cell Reports, 2018
Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Bai, Lei, Cavanaugh, Daniel, Gutmann, David H, Haynes, Paula, Hsu, Cynthia T, Lee, Yool, Sehgal, Amita, Stein, Carly, Wang, Han, Williams, Julie A, Zheng, Xiangzhong   +10 more
core   +8 more sources

Updated nomenclature for human and mouse neurofibromatosis type 1 genes [PDF]

Neurology Genetics, 2017
Anastasaki, Corina, Gutmann, David H, Kesterson, Robert A, Le, Lu Q   +3 more
core   +6 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

NF1 Gene and Neurofibromatosis 1 [PDF]

American Journal of Epidemiology, 2000
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria.
S A, Rasmussen, J M, Friedman
openaire   +2 more sources

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

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

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