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[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …
Topoisomerase IIα in chromosome instability and personalized cancer therapy
Genome instability is a hallmark of cancer cells. Chromosome instability (CIN), which is often
mutually exclusive from hypermutation genotypes, represents a distinct subtype of genome …
mutually exclusive from hypermutation genotypes, represents a distinct subtype of genome …
Deleterious germline mutations in patients with apparently sporadic pancreatic adenocarcinoma
Purpose Deleterious germline mutations contribute to pancreatic cancer susceptibility and
are well documented in families in which multiple members have had pancreatic cancer …
are well documented in families in which multiple members have had pancreatic cancer …
A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases
K Neveling, I Feenstra, C Gilissen… - Human …, 2013 - Wiley Online Library
The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …
the genetic diagnosis and research of rare diseases that involve a large number of genes …
[HTML][HTML] Exome sequencing identifies biallelic MSH3 germline mutations as a recessive subtype of colorectal adenomatous polyposis
R Adam, I Spier, B Zhao, M Kloth, J Marquez… - The American Journal of …, 2016 - cell.com
In∼ 30% of families affected by colorectal adenomatous polyposis, no germline mutations
have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and …
have been identified in the previously implicated genes APC, MUTYH, POLE, POLD1, and …
Validation of recently proposed colorectal cancer susceptibility gene variants in an analysis of families and patients—a systematic review
High-throughput sequencing analysis has accelerated searches for genes associated with
risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1 …
risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1 …
Genetic predisposition to colorectal cancer: where we stand and future perspectives
L Valle - World journal of gastroenterology: WJG, 2014 - pmc.ncbi.nlm.nih.gov
The development of colorectal cancer (CRC) can be influenced by genetic factors in both
familial cases and sporadic cases. Familial CRC has been associated with genetic changes …
familial cases and sporadic cases. Familial CRC has been associated with genetic changes …
[HTML][HTML] Recent discoveries in the genetics of familial colorectal cancer and polyposis
L Valle - Clinical Gastroenterology and Hepatology, 2017 - Elsevier
The development of genome-wide massively parallel sequencing, ie, whole-genome and
whole-exome sequencing, and copy number approaches has raised high expectations for …
whole-exome sequencing, and copy number approaches has raised high expectations for …
Correlation of BUB1 and BUB1B with the development and prognosis of endometrial cancer
H Zhang, Y Li, H Lu - Scientific Reports, 2024 - nature.com
This study aimed to evaluate the expression and clinical significance of budding uninhibited
by benzimidazole 1 (BUB1) and BUB1 mitotic checkpoint serine/threonine kinase B …
by benzimidazole 1 (BUB1) and BUB1 mitotic checkpoint serine/threonine kinase B …
Colon cancer transcriptome
Over the last four decades, methodological innovations have continuously changed
transcriptome profiling. It is now feasible to sequence and quantify the transcriptional outputs …
transcriptome profiling. It is now feasible to sequence and quantify the transcriptional outputs …