Detalles de la búsqueda
1.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
J Med Genet
; 59(10): 1017-1023, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-35121649
2.
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
J Med Genet
; 56(2): 63-74, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30472649
3.
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Hum Mutat
; 40(12): 2296-2317, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31343793
4.
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.
Hum Mutat
; 40(9): 1593-1611, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31112341
5.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants.
Hum Mutat
; 40(9): 1546-1556, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31294896
6.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat
; 40(9): 1557-1578, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31131967
7.
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Breast Cancer Res Treat
; 174(2): 543-550, 2019 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-30552643
8.
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
9.
Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism.
Apoptosis
; 20(3): 371-82, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25398538
10.
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
11.
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
12.
Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.
Gynecol Oncol
; 131(2): 460-3, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23911796
13.
Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.
Breast Cancer Res Treat
; 133(1): 273-83, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22434521
14.
Sperm gene expression profile is related to pregnancy rate after insemination and is predictive of low fecundity in normozoospermic men.
Hum Reprod
; 27(6): 1556-67, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22447625
15.
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro.
Mol Ther Nucleic Acids
; 30: 493-505, 2022 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-36420221
16.
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Cancer Genet
; 258-259: 10-17, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34237702
17.
Clinical consequences of BRCA2 hypomorphism.
NPJ Breast Cancer
; 7(1): 117, 2021 Sep 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34504103
18.
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
19.
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
J Cancer Res Clin Oncol
; 144(12): 2495-2513, 2018 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-30306255
20.
A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.
EMBO Mol Med
; 10(12)2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30377213