Detalhe da pesquisa
1.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum Mutat
; 39(5): 729-741, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460995
2.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet Med
; 20(4): 452-457, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837162
3.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27060066
4.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24569164
5.
De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?
Tumori
; 110(1): 69-73, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691472
6.
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Hum Mutat
; 34(10): 1424-31, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23893897
7.
Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm.
Endocr Pathol
; 33(3): 400-410, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342838
8.
Analysis of Italian BRCA1/2 Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy.
Cancers (Basel)
; 13(3)2021 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33573335
9.
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Cancers (Basel)
; 11(3)2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30832263
10.
Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.
Hum Mutat
; 24(5): 400-7, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15459955
11.
Evidences for association of the CASP8 -652 6N del promoter polymorphism with age at diagnosis in familial breast cancer cases.
Breast Cancer Res Treat
; 113(3): 607-8, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18343995
12.
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
PLoS One
; 8(2): e57173, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23451180
13.
The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases.
Cancer Detect Prev
; 32(2): 140-3, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18640791
14.
The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors.
J Pediatr Hematol Oncol
; 28(12): 791-7, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17164647
15.
Bilateral preaxial polydactyly in a WAGR syndrome patient.
Am J Med Genet A
; 134(4): 426-9, 2005 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15742368
16.
Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case.
Am J Med Genet A
; 143A(1): 85-8, 2007 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17163536