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Investigation of patients with childhood epilepsy in single center: Comprehensi…

Gerik-Celebi(HB),Dokurel Çetin(İ),Bolat(H),U… Int J Dev Neurosci 2024-11-00

...NF1, TSC2, and CDK13. Genetic diagnosis rates were as follows: cases with developmental delay/intellectual disability 38...

Genome-Wide Sequencing Reveals MicroRNAs Downregulated in Cerebral Cavernous Ma…

Kar(S),Bali(KK),Baisantry(A),Geffers(R),Sami… J Mol Neurosci 2017-02-00

...NF1, and ENG, which are previously characterized as key regulators of CCM pathology. To date, this is the first study to...

Clinical features associated with immune checkpoint inhibitor nephritis: a sing…

Muddasani(R),Talwar(N),Mambetsariev(I),Frick… Cancer Immunol Immunother 2024-08-06

...NF1 and TP53 mutations. There was high PD-L1 expression on tumor tissue noted in two out of six patients. In addition to...

Glioma oncogenesis in the Constitutional mismatch repair deficiency (CMMRD) syn…

Guerrini-Rousseau(L),Merlevede(J),Denizeau(P… Neurooncol Adv 2024-00-00

...NF1, EPHB2, PRKDC, and DICER1 genes were frequently mutated with higher VAF than the deleterious somatic polymerase muta...

The SOS1 Inhibitor MRTX0902 Blocks KRAS Activation and Demonstrates Antitumor A…

Sudhakar(N),Yan(L),Qiryaqos(F),Engstrom(LD),… Mol Cancer Ther 2024-10-01

...NF1 and PTEN) in resistance following combination treatment. Lastly, combined vertical inhibition of RTK/MAPK pathway si...

Molecular Testing of Brain Tumor.

Park(SH),Won(J),Kim(SI),Lee(Y),Park(CK),Kim(… J Pathol Transl Med 2017-05-00

...NF1 as well as mutations of TERTp . High-grade pediatric gliomas differ from those of adult gliomas, consisting of mutat...

Circulating tumor DNA predicts venous thromboembolism in patients with cancers.

Ma(S),Jiang(JY),Kim(RB),Chiang(E),Theng Tion… J Thromb Haemost 2025-01-00

...NF1, and EGFR genes. Compared with the clinical-only model (AUC, 0.71; 95% CI, 0.64-0.76), the combined clinical and ctD...

The Prevalence of Cancer Predisposition Syndromes (CPSs) in Children with a Neo…

Telman-Kołodziejczyk(G),Strauss(E),Sosnowska… Genes (Basel) 2024-08-29

...NF1), Li-Fraumeni syndrome (LFS), and Down syndrome (DS). To conclude, it is important to emphasize the need for persona...

Whole-exome sequencing has revealed novel genetic characteristics in intracrani…

Huang(X),Huang(J),Zhou(X),Zhang(C),Ding(X),W… Histopathology 2024-06-00

...NF1 mutation was associated with shorter overall survival and progression-free survival in IGCT patients. Clonal evoluti...

Comprehensive genomic profiling of malignant phyllodes tumors of the breast.

Nozad(S),Sheehan(CE),Gay(LM),Elvin(JA),Vergi… Breast Cancer Res Treat 2017-00-00

...NF1 (45.8%), MED12 (45.8%), CDKN2A/B (33.3%), and MLL2 (33.3%). Targetable kinase fusions including KIAA1549-BRAF or FGF...

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