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1.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35979650
2.
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Hum Mutat
; 39(4): 515-526, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29280214
3.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat
; 39(12): 2025-2039, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30204945
4.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27008870
5.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27060066
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24569164
7.
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
Int J Cancer
; 134(9): 2088-97, 2014 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24130102
8.
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.
Breast Cancer Res Treat
; 147(1): 133-43, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25086635
9.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem
; 60(2): 341-52, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24212087
10.
Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.
Acta Paediatr
; 108(4): 763-765, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30536735
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23893897
12.
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Hum Mutat
; 34(12): 1615-8, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24027083
13.
Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria.
Dermatology
; 227(3): 238-42, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24135682
14.
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Breast Cancer Res Treat
; 132(3): 1009-23, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21769658
15.
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Front Genet
; 9: 366, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30233647
16.
Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.
PLoS One
; 9(3): e93306, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24686251
17.
CDK redundancy guarantees cell cycle progression in Rb-negative tumor cells independently of their p16 status.
Cell Cycle
; 7(13): 1962-72, 2008 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18604173
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