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/vufind/Search/Results?lookfor=%22Del+Valle%2C+Jes%C3%BAs%22&type=Person&sort=year
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PubPharm (67)
1
Tumor analysis of MMR genes in Lynch-like syndrome : Challenges associated with results interpretation
enthalten in:
Cancer medicine
| 2024
von
Rofes, P.
|
Dueñas, N.
|
Del Valle, J.
| +10
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2
The BRCA2 R2645G variant increases DNA binding and induces hyper-recombination
enthalten in:
Nucleic acids research
| 2023
von
Alvaro-Aranda, L.
|
Petitalot, A.
|
Djeghmoum, Y.
| +20
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3
Solving the enigma of POLD1 p.V295M as a potential cause of increased cancer risk
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Mur, P.
|
Magraner-Pardo, L.
|
García-Mulero, S.
| +9
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4
Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer
enthalten in:
Journal of medical genetics
| 2022
von
Moreno-Cabrera, J.
|
Del Valle, J.
|
Feliubadaló, L.
| +9
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5
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
enthalten in:
Journal of the National Cancer Institute
| 2022
von
Barnes, D.
|
Silvestri, V.
|
Leslie, G.
| +99
CommentIn: J Urol. 2022 Mar;207(3):735-738. - PMID 34915718
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6
Variants of uncertain significance (VUS) in cancer predisposing genes : What are we learning from multigene panels?
enthalten in:
European journal of medical genetics
| 2022
von
Lucci-Cordisco, E.
|
Amenta, S.
|
Panfili, A.
| +4
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7
Mosaicism in PTEN-new case and comment on the literature
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Rofes, P.
|
Teulé, .
|
Feliubadaló, L.
| +9
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8
Genetic screening for TLR7 variants in young and previously healthy men with severe COVID-19: a case series
enthalten in:
bioRxiv.org
| 2021
von
Solanich, X.
|
Vargas-Parra, G.
|
van der Made, C.
| +15
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9
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant
enthalten in:
Scientific reports
| 2021
von
Rofes, P.
|
Pineda, M.
|
Feliubadaló, L.
| +8
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10
CNVfilteR : an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools
enthalten in:
Bioinformatics (Oxford, England)
| 2021
von
Moreno-Cabrera, J.
|
Del Valle, J.
|
Castellanos, E.
| +6
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Breast cancer research and treatment
5
Human mutation
4
European journal of human genetics : EJHG
4
Familial cancer
3
Cancers
3
International journal of cancer
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European journal of cancer (Oxford, England : 1...
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1
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1
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1
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1
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1
Genes
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Thema
39
Journal Article
29
Research Support, Non-U.S. Gov't
12
Lynch syndrome
7
BRCA1 Protein
7
BRCA2 Protein
7
RNA
7
VUS
6
BRCA2 protein, human
6
Splicing
5
BRCA1 protein, human
5
Case Reports
5
EC 3.6.1.3
5
HBOCS
5
MLPA
5
Mismatch repair
4
BRCA1
4
Breast cancer
4
Constitutional mismatch repair deficiency
4
DNA-Binding Proteins
4
Ovarian cancer
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Erscheinungszeitraum
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2020-
38
2010-2019
5
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