Detalhe da pesquisa
1.
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
J Neurooncol
; 137(1): 33-38, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29230670
2.
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
3.
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Hum Mol Genet
; 20(16): 3304-21, 2011 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21593217
4.
A CLEIA Antigen Assay in Diagnosis and Follow-Up of SARS-CoV-2-Positive Subjects.
Microbiol Spectr
; 10(3): e0103221, 2022 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499325
5.
Exploring the link between MORF4L1 and risk of breast cancer.
Breast Cancer Res
; 13(2): R40, 2011 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-21466675
6.
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil.
Pharmacol Res
; 64(3): 242-8, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21536130
7.
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.
Breast Cancer Res Treat
; 117(3): 497-504, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18821011
8.
Lack of association between TNF-alpha polymorphisms and Alzheimer's disease in an Italian cohort.
Neurosci Lett
; 446(2-3): 139-42, 2008 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18834925
9.
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.
J Mol Diagn
; 20(1): 87-94, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29061375
10.
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.
Genet Test
; 9(1): 14-9, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15857181
11.
Donor-Specific Anti-HLA Antibodies in Huntington's Disease Recipients of Human Fetal Striatal Grafts.
Cell Transplant
; 24(5): 811-7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24380491
12.
Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene.
Inflamm Bowel Dis
; 10(6): 705-8, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15626886
13.
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
PLoS One
; 9(2): e86924, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516540
14.
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Cancer Epidemiol Biomarkers Prev
; 21(1): 134-47, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22144499
15.
A PALB2 germline mutation associated with hereditary breast cancer in Italy.
Fam Cancer
; 9(2): 181-5, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763884
16.
Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report.
Cancer Genet Cytogenet
; 195(1): 75-9, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19837273