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Somatic Mutation of the Non-Muscle-Invasive Bladder Cancer Associated with Earl…

Yu(SH),Kim(SS),Lee(H),Kim(S),Kang(TW) Diagnostics (Basel) 2023-10-13

...NF1) (79%), and neurogenic locus notch homolog protein 1 (NOTCH1) (79%). In multivariable analysis, mutation of epiderma...

Can Hemorrhagic Stroke Genetics Help Forensic Diagnosis in Pediatric Age (<5 Ye…

Treves(B),Sonnini(E),La Russa(R),Del Duca(F)… Genes (Basel) 2024-00-13

...Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and...

Using a qualitative approach to conceptualize concerns of patients with neurofi…

Lai(JS),Jensen(SE),Patel(ZS),Listernick(R),C… Am J Med Genet A 2017-01-00

...NF1) plexiform neurofibromas (pNFs) are associated with a variety of symptoms and concerns that affect patients' quality...

Clinical characteristics and prognostic factors of solitary and multiple adult …

Huang(R),Wu(H),Lu(X),Sun(X) Eur Rev Med Pharmacol Sci 2023-00-00

...NF1 mutation (p<0.05). Before PSM, the mOS for patients with multiple gliomas was shorter than that for those with solit...

Defining the temporal course of murine neurofibromatosis-1 optic gliomagenesis …

Toonen(JA),Ma(Y),Gutmann(DH) Neuro Oncol 2017-00-01

...Nf1flox/mut GFAP-Cre (FMC) mice and age-matched Nf1flox/flox (FF) controls were euthanized at defined intervals from 2 w...

Malignant glioma in L-2-Hydroxyglutaric Aciduria: thorough molecular characteri…

Cordier(F),Wesseling(P),Tops(BBJ),Kester(L),… Free Neuropathol 2024-01-00

...NF1. Genome-wide DNA-methylation analysis was unable to classify the tumor with high confidence. More detailed analysis ...

Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: A report of two cases with …

Sukhanova(M),Obeidin(F),Streich(L),Alexiev(B… Genes Chromosomes Cancer 2022-00-00

...NF1, TP53, SMARCA4, KRAS, and MSH6. MSH6 variant was confirmed as germline, consistent with the diagnosis of hereditary ...

MDM2/MDM4 amplification and CDKN2A deletion in metastatic melanoma and glioblas…

Arnoff(TE),El-Deiry(WS) Am J Cancer Res 2022-00-00

...NF1, alterations previously associated with favorable response to immune-checkpoint inhibitors in melanoma. We propose C...

Analysis of genetic variants of frequently mutated genes in human papillomaviru…

Flach(S),Kumbrink(J),Walz(C),Hess(J),Drexler… J Oral Pathol Med 2022-09-00

...NF1 and CDKN2A among others. A total of 20.8% of variants were shared between primary tumour and resection margin. Out o...

Targeted next generation sequencing reveals unique mutation profile of primary …

van de Nes(J),Gessi(M),Sucker(A),Möller(I),S… J Neurooncol 2016-05-00

...NF1, RAC1, PIK3CA, ARID1A). Metastasized uveal melanomas exhibited mutations in GNAQ, GNA11 and BAP1. In contrast, MT-CN...

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