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Genome-wide rare copy number variations contribute to genetic risk for transpos…

Costain(G),Lionel(AC),Ogura(L),Marshall(CR),… Int J Cardiol 2016-02-01

...NF1, NKX1-2, RERE, SLC8A1, SOX18, and ULK1. These data demonstrate a genome-wide role for rare CNVs in genetic risk for ...

The utility of DNA methylation profiling in the diagnosis of un-, de- and trans…

Erdem(ZB),Ameline(B),Bovée(JVMG),van Boven(H… Histopathology 2025-01-00

...NF1. Currently, little is known about whether the DNA methylation profile follows the loss or change of differentiation ...

Genomic Landscape of Somatic Alterations in Esophageal Squamous Cell Carcinoma …

Hu(N),Kadota(M),Liu(H),Abnet(CC),Su(H),Wu(H)… Cancer Res 2016-00-01

...NF1, ERBB2, and CHEK2, and potentially novel cancer-associated genes, KISS1R, AMH, MNX1, WNK2, and PRKRIR Finally, we id...

Prevalence and clinical implications of germline pathogenic variants in cancer …

Carvalho(NA),Santiago(KM),Maia(JML),Costa(FD… J Med Genet 2023-00-21

...NF1, EXT1/2) but also in genes where that risk is still emerging/limited (ERCC2, TSC2 and BRCA2) or unknown (PALB2, RAD5...

Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloi…

Provenzano(A),Chetta(M),De Filpo(G),Cantini(… Medicina (Kaunas) 2022-08-17

...NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, and VHL), followed initially by SNP-CGH array, to exclude the presenc...

A cross-sectional study of clinical, dermoscopic, histopathological, and molecu…

Porto(AC),Pinto Blumetti(T),Calsavara(VF),Ta… Sci Rep 2022-00-05

...NF1 gene was evaluated in 40 samples, of which 20% exhibited mutations. SM presents differently in areas covered by hair...

Neoplasms with schwannian differentiation express transcription factors known t…

Pytel(P),Karrison(T),Can Gong,Tonsgard(JH),K… Int J Surg Pathol 2010-12-00

...NF1-associated MPNSTs. These results suggest that the transcription factors that guide normal Schwann cell development a...

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin d…

Xintong(Z),Kexin(Z),Junwen(W),Ziyi(W),Na(L),… BMC Med Genomics 2023-00-21

...NF1, c.6110G > T in COL7A1, c.2127delG in TSC1, c.1445 C > A and c.1265G > A in TYR, Xp22.31 deletion in STS, c.908 C > ...

Case Report: Next generation sequencing identifies a NAB2-STAT6 fusion in Gliob…

Diamandis(P),Ferrer-Luna(R),Huang(RY),Folker… Diagn Pathol 2016-01-27

...NF1A (p.R263H) and NF1 (p.H2592del) variants and a NAB2-STAT6 gene fusion event involving NAB2 exon 3 and STAT6 exon 18....

[Study of genetic variants in 169 non-small cell lung cancer patients].

Formanti Alonso(L),Atienza Cuevas(L),Romero … Rev Esp Patol 2023-00-00

...NF1 (30%), EGFR (18%), CCND1 (9%), MYC (9%) and KRAS (7%). In women, SNV in EGFR are more frequent than in men (P<.0001)...

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