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Characterization of the mutational landscape of anaplastic thyroid cancer via w…

Kunstman(JW),Juhlin(CC),Goh(G),Brown(TC),Ste… Hum Mol Genet 2015-04-15

...NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2A; some of which were recurrent and were investigated in 24 addi...

Mutational spectrum for guiding the decision of adjuvant treatment in patients …

Li(Y),Tan(C),Yin(X),Zhu(S),Cai(R),Liao(C),Wu… Cancer Med 2023-00-00

...NF1, NF2, PBRM1, PIK3CA, and TGFBR1 were unfavorable mutations. In addition to age, sex, and node positive, favorable ge...

Magnetic resonance imaging characteristics of pediatric pilocytic astrocytoma.

Opancina(V),Esposito(S),Di Meco(F),Bruno(E),… Neurol Sci 2023-11-00

...NF1-related-pilocytic astrocytomas and to correlate specific MRI patterns with clinical variables. This is a cross-secti...

Mutational landscape of primary spinal cord astrocytoma.

Cheng(L),Zhang(F),Zhao(X),Wang(L),Duan(W),Gu… J Pathol 2023-00-00

...NF1 (19.6%), ATRX (17.6%), and PPM1D (17.6%) were the most frequently mutated genes. Furthermore, three novel driver gen...

EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma of the Spleen: Repo…

Baber(A),Legendre(P),Palmic(P),Lupo-Mansuet(… Int J Surg Pathol 2024-02-00

...NF1 genes. Subsequently, the patient's condition deteriorated rapidly. Since interleukin-6 levels were dramatically incr...

Genome-wide profiling of patient-derived glioblastoma stem-like cells reveals r…

Lazzarini(E),Silvestris(DA),Benvenuto(G),Ost… J Neurooncol 2023-05-00

...NF1 (15/94, 16%), among other genes associated to brain tumors. One GSC sample bearing a BRAF p.V600E mutation showed se...

Endocrine system involvement in patients with RASopathies: A case series.

Siano(MA),Pivonello(R),Salerno(M),Falco(M),M… Front Endocrinol (Lausanne) 2022-00-00

...NF1, N=3) and an age- and sex-matched healthy controls were included in the study. Endocrine system involvement was inve...

Gene-Function-Based Clusters Explore Intricate Networks of Gene Expression of C…

Huang(CS),Terng(HJ),Hwang(YT) Biomedicines 2023-01-06

...NF1), and translation factors (EIF2S3, CPEB4, and EXT2) were also revealed. Our results suggest that limited G1/S transi...

Successful treatment of non-Langerhans cell histiocytosis with the MEK inhibito…

Aaroe(A),Kurzrock(R),Goyal(G),Goodman(AM),Pa… Blood Adv 2023-00-08

...NF1, GNAS, or RAS. Most patients required lower than standard doses of trametinib but were responsive to lower doses. Ou...

Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patient…

Park(HK),Lee(KJ),Park(JM),Kang(K),Lee(SJ),Ki… Ann Neurol 2023-00-00

...NF1, COL3A1, MT-TL1, and APP) using a customized, targeted next generation sequencing panel. Among 1,033 patients, 131 (...

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