An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1)
Nucleic Acids Research, 1991 G. F. Xu +3 more
openaire +4 more sources
Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report. [PDF]
Am J Case RepWieniawski P +4 more
europepmc +1 more source
Prime Editing-Based Functional Characterization Supports a Likely Pathogenic Interpretation of <i>NF1</i> c.6394T>C (p.Ser2132Pro). [PDF]
Genes (Basel)Wu J, Li G, Liu S, Ma C, Wang X.
europepmc +1 more source
Malignant transformation in a patient with type 1 neurofibromatosis: A case report. [PDF]
J Int Med ResLi S, Hao W, Xue Y.
europepmc +1 more source
Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System. [PDF]
Mol Genet Genomic MedCarstens N, Mudau M, Essop F, Krause A.
europepmc +1 more source
Diagnosing metastatic angiosarcoma arising from MPNST using H3K27me3 staining in NF1: illustrative case. [PDF]
J Neurosurg Case LessonsHagan MKA, Spinner RJ, Torres-Mora J.
europepmc +1 more source
Case Report: Schwann cell reprogramming and PDGF-driven nerve hypertrophy in an NF1 patient with CIDP-like autoimmunity. [PDF]
Front ImmunolWang F +8 more
europepmc +1 more source
Diagnoses of double heterozygous NF1 variants and dual RASopathy. [PDF]
Mol Cell PediatrAngelova-Toshkina D +6 more
europepmc +1 more source
Mechanisms of Resistance to MEK Inhibitors (RAS-MAPK Pathway) in Malignant Peripheral Nerve Sheath Tumors and Their Precursor Lesions (Plexiform Neurofibromas) Associated with Neurofibromatosis Type 1. [PDF]
Cancers (Basel)Sologov SI +10 more
europepmc +1 more source