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1.
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.
Article
in English
| MEDLINE | ID: mdl-30472649
2.
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.
Article
in English
| MEDLINE | ID: mdl-31343793
3.
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.
Article
in English
| MEDLINE | ID: mdl-30552643
4.
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.
Article
in English
| MEDLINE | ID: mdl-24130102
5.
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.
Article
in English
| MEDLINE | ID: mdl-24212087
6.
Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.
Gynecol Oncol
; 131(2): 460-3, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23911796
7.
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.
J Mol Diagn
; 25(9): 692-701, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37356622
8.
A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Genes (Basel)
; 13(8)2022 08 08.
Article
in English
| MEDLINE | ID: mdl-36011323
9.
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Cancers (Basel)
; 13(13)2021 Jul 03.
Article
in English
| MEDLINE | ID: mdl-34283047
10.
BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Cancer Genet
; 258-259: 10-17, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34237702
11.
Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.
Breast Cancer Res Treat
; 123(2): 587-90, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-20232139
12.
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.
Article
in English
| MEDLINE | ID: mdl-30306255
13.
Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
J Cancer Res Clin Oncol
; 139(3): 529-32, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23371468
14.
Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.
Oncol Lett
; 2(6): 1287-1289, 2011 Nov.
Article
in English
| MEDLINE | ID: mdl-22848303
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