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Association of mutations with morphological dysplasia in de novo acute myeloid …

Weinberg(OK),Gibson(CJ),Blonquist(TM),Neuber… Haematologica 2018-00-00

...NF1 (P=0.040), frequent micromegakaryocytes (P=0.018) and presence of a subclone (P=0.002) were associated with shorter ...

UPDATE ON THE CLINICOPATHOLOGY OF PITUITARY ADENOMAS.

Lim(CT),Korbonits(M) Endocr Pract 2018-05-00

...NF1, and SDHx, whereas more recently, CABLES1 has also been implicated. Understanding the pathogenesis of pituitary aden...

Genetic alteration analysis of non-pediatric diffuse midline glioma, H3 K27-alt…

Jang(H),Moon(S),Kwon(HJ),Lee(S),Choe(G),Lee(… Hum Pathol 2024-12-00

...NF1 in 4 (22.2%), and KRAS or ATM in 1 (5.6%). TP53 mutations were significantly correlated with high-grade histological...

Clinical Characteristics of Multiple Café-Au-Lait Macules and Their Potential S…

Chen(T),Wu(J),Yang(X),Xia(Z),Yang(R) Clin Cosmet Investig Dermatol 2025-00-00

...NF1). This study aimed to investigate the clinical characteristics of multiple CALMs and their significance in the early...

Pathways Impacted by Genomic Alterations in Pulmonary Carcinoid Tumors.

Asiedu(MK),Thomas(CF),Dong(J),Schulte(SC),Kh… Clin Cancer Res 2018-00-01

...NF1, RAD51C, TAF1L, EPHB2, POLR3B, and AGFG1 The mutated genes are involved in biological processes including cellular m...

Involvement of Aryl hydrocarbon receptor in myelination and in human nerve shea…

Shackleford(G),Sampathkumar(NK),Hichor(M),We… Proc Natl Acad Sci U S A 2018-00-06

...NF1) gene inactivation, further genetic lesions are required for malignant transformation. We have quantified the mRNA e...

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Will…

Stephens(SB),Novy(T),Spurzem(GN),Jacob(B),Be… J Am Heart Assoc 2024-04-16

...NF1), and homozygous familial hypercholesterolemia (1 LDLR1). Overall, sequencing was diagnostic in 29 of 47 (62%). When...

Reclassification of variants of uncertain significance by race, ethnicity, and …

Pleasant(V),Boggan(J),Richards(B),Milliron(K… Front Oncol 2025-00-00

...NF1, PALB2, PTEN, RAD51C/D, STK11, and/or TP53. Demographic data were collected [including race, ethnicity, and ancestry...

Recurrent mucinous carcinoma with sarcomatoid and sarcomatous mural nodules: a …

Li(S),Zhu(J),Jiang(N),Guo(Y),Hou(M),Liu(X),Y… Front Oncol 2024-00-00

...NF1 mutation(c.7876A>G, p.S2626G). We present a comprehensive analysis on morphologic characteristics, molecular detecti...

WHO 2016 classification: changes and advancements in the diagnosis of miscellan…

Sahm(F),Reuss(DE),Giannini(C) Neuropathol Appl Neurobiol 2018-00-00

...NF1, CDKN2A, and PRC2 components, SUZ12 and EED in MPNST, leading to neurofibromin and H3K27me3 expression loss; GNAQ an...

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