Detalhe da pesquisa
1.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130695
2.
Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.
BMC Med Genet
; 17: 11, 2016 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26852130
3.
Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development.
Mol Syndromol
; 15(2): 167-174, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585550
4.
Null Mismatch Repair Proteins Expression Reveals the Temporal Molecular Events in Lynch Syndrome-Related Cancers.
Diagnostics (Basel)
; 14(9)2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38732303
5.
Metabolic Clues to Bile Acid Patterns and Prolonged Survival in Patients with Metastatic Soft-Tissue Sarcoma Treated with Trabectedin.
Metabolites
; 13(10)2023 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37887360
6.
Integrated analysis of unclassified variants in mismatch repair genes.
Genet Med
; 13(2): 115-24, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21239990
7.
Association between hsa-mir-146a genotype and tumor age-of-onset in BRCA1/BRCA2-negative familial breast and ovarian cancer patients.
Carcinogenesis
; 31(12): 2124-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20810544
8.
Different molecular mechanisms underlie genomic deletions in the MLH1 Gene.
Hum Mutat
; 20(5): 368-74, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12402334
9.
Amsterdam criteria II and endometrial cancer index cases for an accurate selection of HNPCC families.
Tumori
; 88(1): 18-20, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12004844
10.
Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations.
Genes Chromosomes Cancer
; 45(9): 791-7, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16715518
11.
Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.
Breast Cancer Res Treat
; 81(1): 71-9, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-14531499