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Hidden dangers: a cryptic exon disrupts BRCA2 mRNA.

Fackenthal(James D),Lee(Younghee),Olopade(... Clin Cancer Res 2013-03-22

...BRCA2 mRNA by including a novel, cryptic exon is reported in this issue. The mutation lies deep within an intron and wou...

Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongu...

Moreira(Miguel A M),Bobrovnitchaia(Irina G... Fam Cancer 2013-04-23

We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referre...

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testic...

Smetsers(Stephanie),Muter(Joanne),Bristow(... Fam Cancer 2013-04-23

...BRCA2, FANCJ/BRIP1, FANCN/PALB2, RAD51C/FANCO and link the FA pathway to inherited breast and ovarian cancer. We describ...

The impact of FANCD2 deficiency on formaldehyde-induced toxicity in human lym...

Ren(Xuefeng),Ji(Zhiying),McHale(Cliona M),... Arch Toxicol 2013-06-07

...BRCA2 was compromised in FANCD2-deficient PD20 cells, potentially reducing the capacity to repair DPCs. Together, these ...

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast ca...

Ozcelik(Hilmi),Shi(Xuejiang),Chang(Martin ... J Mol Diagn 2013-01-03

Individuals and families carrying mutations in BRCA1 and BRCA2 (BRCA1/2) have a markedly elevated risk of developing bre...

Genetic testing by cancer site: ovary.

Weissman(Scott M),Weiss(Shelly M),Newlin(A... Cancer J 2013-01-30

...BRCA2 genes), Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), and Peutz-Jeghers syndr...

Genetic testing by cancer site: pancreas.

Axilbund(Jennifer E),Wiley(Elizabeth A) Cancer J 2013-01-30

...BRCA2, and PALB2), CDKN2A, hereditary pancreatitis, hereditary nonpolyposis colorectal cancer, and Peutz-Jeghers syndrom...

Genetic testing by cancer site: stomach.

Chun(Nicki),Ford(James M) Cancer J 2013-01-30

...BRCA2 mutations, in familial adenomatous polyposis caused by germline APC mutations, in Li-Fraumeni syndrome due to germ...

Constitutive promoter methylation of BRCA1 and RAD51C in patients with famili...

Hansmann(Tamara),Pliushch(Galyna),Leubner(... Hum Mol Genet 2013-04-03

Genetic defects in breast cancer (BC) susceptibility genes, most importantly BRCA1 and BRCA2, account for ~40% of heredi...

Routine TP53 testing for breast cancer under age 30: ready for prime time?

McCuaig(Jeanna M),Armel(Susan R),Novokmet(... Fam Cancer 2013-04-23

...BRCA2 genes; however, few are offered genetic testing for mutations in the TP53 gene. There is a concern that overly res...

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