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PRAP study-partial versus radical adrenalectomy in hereditary pheochromocytomas.

Xu(K),Langenhuijsen(JF),Viëtor(CL),Feelders(… Eur J Endocrinol 2024-08-30

...NF1, MAX, and TMEM127 from 12 European centers (1974-2023) were studied retrospectively. Stratified analysis based on su...

Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma…

Khadilkar(K),Sarathi(V),Kasaliwal(R),Pandit(… J Pediatr Endocrinol Metab 2017-05-01

...NF1). Thirty patients (12 boys, 18 girls) presented at ≤20 years of age (mean age of 15.9±3.8 years). Children were more...

Investigating Causal Genetic Effects on Overall Survival of Glioblastoma Patien…

Yu(F),Wang(R),Chaudhari(P),Davatzikos(C) Proc SPIE Int Soc Opt Eng 2024-02-00

...NF1, RB1) was revealed in the cohort (n=181), while their genetic effects on OS in terms of prolonging or shortening are...

Comprehensive genomic profiling of different subtypes of nasopharyngeal carcino…

Ali(SM),Yao(M),Yao(J),Wang(J),Cheng(Y),Schro… Cancer 2017-09-15

...NF1 (5%) in NPUC; CDKN2A (27%), PIK3CA (23%), FBXW7 (11%), PTEN (11%), and EGFR (8%) in NPSCC; and CDKN2A (20%), KRAS (1...

Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (184…

Ruggieri(M),Praticò(AD),Caltabiano(R),Polizz… Neurol Sci 2017-03-00

...NF1, NF2 or SWTNS).

Molecular characterization of V(D)J rearrangements in immature acute leukemias.

Vianna(DT),Reis Monte-Mór(BDC),Noronha(EP),G… Leuk Res 2024-08-00

...NF1 deletion was most frequent in patients with ≥ 3 V(D)J-r. Relapse and death occurred mainly in patients harboring one...

Canonical and uncanonical pathogenic germline variants in colorectal cancer pat…

Poliani(L),Greco(L),Barile(M),Dal Buono(A),B… ESMO Open 2022-00-00

...NF1 plus BRIP1); such multiple PVs occurred only in subjects with PVs in mismatch syndrome genes (4/20 versus 0/31; P = ...

Impact of CDKN2A/B, MTAP, and TERT Genetic Alterations on Survival in IDH Wild …

Hsu(EJ),Thomas(J),Maher(EA),Youssef(M),Timme… Discov Oncol 2022-11-15

...NF1 mutations had worse OS (HR 1.990, p = 0.0540), while CDKN2A wild type patients had improved OS (HR 0.229, p = 0.0723...

Comprehensive genomic analysis of primary malignant melanoma of the esophagus r…

Li(J),Liu(B),Ye(Q),Xiao(X),Yan(S),Guan(W),He… Mod Pathol 2022-00-00

...NF1, MUC4, KMT2C, and BRAF, were identified. All RANBP2 mutations were putatively deleterious, and most affected samples...

Histiocyte-rich rhabdomyoblastic tumor: rhabdomyosarcoma, rhabdomyoma, or rhabd…

Martinez(AP),Fritchie(KJ),Weiss(SW),Agaimy(A… Mod Pathol 2019-00-00

...NF1 mutations. Next-generation sequencing showed no gene fusions. Clinical follow (nine patients; median 9 months; mean ...

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