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Somatic variants in diverse genes leads to a spectrum of focal cortical malform…

Lai(D),Gade(M),Yang(E),Koh(HY),Lu(J),Walley(… Brain 2022-00-27

...NF1 and NIPBL, genes previously associated with neurodevelopmental disorders. No rare pathogenic or likely pathogenic so...

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta …

Karachaliou(GS),Alkallas(R),Carroll(SB),Care… BMC Cancer 2022-01-05

...NF1, RAC1, and PTEN genes were seen in the mut compared with wt patients from the 3-melanoma institution cohort. Analysi...

Extrauterine RAD51B -Rearranged Soft Tissue Tumors : A Clinicopathologic and Mo…

Zhu(P),Yin(X),Huang(D),Lao(IW),Yu(L),Bai(Q),… Am J Surg Pathol 2026-02-01

...NF1 genes, liked to high-grade morphology and aggressive behavior. DNA methylation profiling demonstrated that RAD51B -r...

Genotype-Phenotype Correlation in Indian Patients with MEN2-Associated Pheochro…

Rajan(Sendhil),Zaidi(Ghazala),Agarwal(Gaurav… World J Surg 2016-09-27

...NF1/SDH-associated PCC).,Components of MEN2 encountered included MTC in 13(76.5%), Marfanoid habitus in 2, and PHPT, cut...

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in th…

Khoshkhoo(S),Wang(Y),Chahine(Y),Erson-Omay(E… JAMA Neurol 2023-00-01

...NF1, all predicted to constitutively activate Ras/Raf/mitogen-activated protein kinase (MAPK) signaling. Immunohistochem...

CCND1 Amplification Profiling Identifies a Subtype of Melanoma Associated With …

Liu(J),Lin(J),Wang(X),Zheng(X),Gao(X),Huang(… Front Immunol 2022-00-00

...NF1, and KIT mutations. Data from TCGA did not show a statistically significant correlation between CCND1 amplification ...

Undiagnosed RASopathies in infertile men.

Juchnewitsch(AG),Pomm(K),Dutta(A),Tamp(E),Va… Front Endocrinol (Lausanne) 2024-00-00

...NF1 (one), and MAP2K1 (one). The findings affected six of 155 cases with CR and SPGF, three of 366 men with SPGF only, a...

Novel Risk Factors for Uveal Melanoma in Adolescent and Young Adult Patients: A…

Nisanova(A),Park(SS),Amin(A),Zako(C),Wilson(… Ophthalmol Sci 2025-00-00

...NF1, and PALB2. The estimated 10-year metastasis-free progression rate and overall survival were 80% and 81%, respective...

Nodular fasciitis: a case series unveiling novel and rare gene fusions, includi…

Saoud(C),Agaimy(A),Stoehr(R),Michal(M),Wang(… Virchows Arch 2025-06-00

...NF1 (exon 33), OMD (exon 1), PFN1 (exon 1), RLIM (exon 1), and SETD5 (exon 1). Six patients underwent surgical resection...

Racial Disparities in the Molecular Landscape of Cancer.

Heath(EI),Lynce(F),Xiu(J),Ellerbrock(A),Redd… Anticancer Res 2018-00-00

...NF1) than those from CC patients. In contrast, CRCs from AA patients were likely to carry fewer mutations of ataxia-tela...

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