231 related articles for article (PubMed ID: 34846068)
1. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
Valenzuela-Palomo A; Bueno-Martínez E; Sanoguera-Miralles L; Lorca V; Fraile-Bethencourt E; Esteban-Sánchez A; Gómez-Barrero S; Carvalho S; Allen J; García-Álvarez A; Pérez-Segura P; Dorling L; Easton DF; Devilee P; Vreeswijk MP; de la Hoya M; Velasco EA
J Pathol; 2022 Mar; 256(3):321-334. PubMed ID: 34846068
[TBL] [Abstract][Full Text] [Related]
2. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.
Bueno-Martínez E; Sanoguera-Miralles L; Valenzuela-Palomo A; Esteban-Sánchez A; Lorca V; Llinares-Burguet I; Allen J; García-Álvarez A; Pérez-Segura P; Durán M; Easton DF; Devilee P; Vreeswijk MP; de la Hoya M; Velasco-Sampedro EA
J Pathol; 2022 Sep; 258(1):83-101. PubMed ID: 35716007
[TBL] [Abstract][Full Text] [Related]
3. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
[TBL] [Abstract][Full Text] [Related]
4. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
Sanoguera-Miralles L; Valenzuela-Palomo A; Bueno-Martínez E; Esteban-Sánchez A; Lorca V; Llinares-Burguet I; García-Álvarez A; Pérez-Segura P; Infante M; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco-Sampedro EA
Clin Chem; 2024 Jan; 70(1):319-338. PubMed ID: 37725924
[TBL] [Abstract][Full Text] [Related]
5. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA
J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759
[TBL] [Abstract][Full Text] [Related]
6. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I; Leman R; Behar R; Lattimore V; Pearson JF; Castéra L; Martins A; Vaur D; Goardon N; Davy G; Garre P; García-Barberán V; Llovet P; Pérez-Segura P; Díaz-Rubio E; Caldés T; Hruska KS; Hsuan V; Wu S; Pesaran T; Karam R; Vallon-Christersson J; Borg A; ; Valenzuela-Palomo A; Velasco EA; Southey M; Vreeswijk MPG; Devilee P; Kvist A; Spurdle AB; Walker LC; Krieger S; de la Hoya M
J Med Genet; 2019 Jul; 56(7):453-460. PubMed ID: 30890586
[TBL] [Abstract][Full Text] [Related]
7. Splicing Analysis of 16
Valenzuela-Palomo A; Sanoguera-Miralles L; Bueno-Martínez E; Esteban-Sánchez A; Llinares-Burguet I; García-Álvarez A; Pérez-Segura P; Gómez-Barrero S; de la Hoya M; Velasco-Sampedro EA
Cancers (Basel); 2022 Sep; 14(18):. PubMed ID: 36139699
[TBL] [Abstract][Full Text] [Related]
8. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Sanoguera-Miralles L; Llinares-Burguet I; Bueno-Martínez E; Ramadane-Morchadi L; Stuani C; Valenzuela-Palomo A; García-Álvarez A; Pérez-Segura P; Buratti E; de la Hoya M; Velasco-Sampedro EA
J Pathol; 2024 Apr; 262(4):395-409. PubMed ID: 38332730
[TBL] [Abstract][Full Text] [Related]
9. Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene
Sanoguera-Miralles L; Bueno-Martínez E; Valenzuela-Palomo A; Esteban-Sánchez A; Llinares-Burguet I; Pérez-Segura P; García-Álvarez A; de la Hoya M; Velasco-Sampedro EA
Cancers (Basel); 2022 Jun; 14(12):. PubMed ID: 35740625
[TBL] [Abstract][Full Text] [Related]
10. Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the
Sanoguera-Miralles L; Valenzuela-Palomo A; Bueno-Martínez E; Llovet P; Díez-Gómez B; Caloca MJ; Pérez-Segura P; Fraile-Bethencourt E; Colmena M; Carvalho S; Allen J; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco EA
Cancers (Basel); 2020 Dec; 12(12):. PubMed ID: 33333735
[TBL] [Abstract][Full Text] [Related]
11. Minigene Splicing Assays Identify 12 Spliceogenic Variants of
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Caloca MJ; Gómez-Barrero S; Velasco EA
Front Genet; 2019; 10():503. PubMed ID: 31191615
[TBL] [Abstract][Full Text] [Related]
12.
Bueno-Martínez E; Sanoguera-Miralles L; Valenzuela-Palomo A; Lorca V; Gómez-Sanz A; Carvalho S; Allen J; Infante M; Pérez-Segura P; Lázaro C; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco EA
Cancers (Basel); 2021 Jun; 13(11):. PubMed ID: 34200360
[No Abstract] [Full Text] [Related]
13. Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Acedo A; Velasco EA
Front Genet; 2018; 9():188. PubMed ID: 29881398
[TBL] [Abstract][Full Text] [Related]
14. Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Duran-Lozano L; Montalban G; Bonache S; Moles-Fernández A; Tenés A; Castroviejo-Bermejo M; Carrasco E; López-Fernández A; Torres-Esquius S; Gadea N; Stjepanovic N; Balmaña J; Gutiérrez-Enríquez S; Diez O
Breast Cancer Res Treat; 2019 Apr; 174(2):543-550. PubMed ID: 30552643
[TBL] [Abstract][Full Text] [Related]
15. Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.
Acedo A; Hernández-Moro C; Curiel-García Á; Díez-Gómez B; Velasco EA
Hum Mutat; 2015 Feb; 36(2):210-21. PubMed ID: 25382762
[TBL] [Abstract][Full Text] [Related]
16. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
Acedo A; Sanz DJ; Durán M; Infante M; Pérez-Cabornero L; Miner C; Velasco EA
Breast Cancer Res; 2012 May; 14(3):R87. PubMed ID: 22632462
[TBL] [Abstract][Full Text] [Related]
17. Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using
Tubeuf H; Caputo SM; Sullivan T; Rondeaux J; Krieger S; Caux-Moncoutier V; Hauchard J; Castelain G; Fiévet A; Meulemans L; Révillion F; Léoné M; Boutry-Kryza N; Delnatte C; Guillaud-Bataille M; Cleveland L; Reid S; Southon E; Soukarieh O; Drouet A; Di Giacomo D; Vezain M; Bonnet-Dorion F; Bourdon V; Larbre H; Muller D; Pujol P; Vaz F; Audebert-Bellanger S; Colas C; Venat-Bouvet L; Solano AR; Stoppa-Lyonnet D; Houdayer C; Frebourg T; Gaildrat P; Sharan SK; Martins A
Cancer Res; 2020 Sep; 80(17):3593-3605. PubMed ID: 32641407
[No Abstract] [Full Text] [Related]
18. Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer.
Toh MR; Low CE; Chong ST; Chan SH; Ishak NDB; Courtney E; Kolinjivadi AM; Rodrigue A; Masson JY; Ngeow J
Fam Cancer; 2020 Apr; 19(2):123-131. PubMed ID: 32048105
[TBL] [Abstract][Full Text] [Related]
19. 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.
de la Hoya M; Soukarieh O; López-Perolio I; Vega A; Walker LC; van Ierland Y; Baralle D; Santamariña M; Lattimore V; Wijnen J; Whiley P; Blanco A; Raponi M; Hauke J; Wappenschmidt B; Becker A; Hansen TV; Behar R; Investigators K; Niederacher D; Arnold N; Dworniczak B; Steinemann D; Faust U; Rubinstein W; Hulick PJ; Houdayer C; Caputo SM; Castera L; Pesaran T; Chao E; Brewer C; Southey MC; van Asperen CJ; Singer CF; Sullivan J; Poplawski N; Mai P; Peto J; Johnson N; Burwinkel B; Surowy H; Bojesen SE; Flyger H; Lindblom A; Margolin S; Chang-Claude J; Rudolph A; Radice P; Galastri L; Olson JE; Hallberg E; Giles GG; Milne RL; Andrulis IL; Glendon G; Hall P; Czene K; Blows F; Shah M; Wang Q; Dennis J; Michailidou K; McGuffog L; Bolla MK; Antoniou AC; Easton DF; Couch FJ; Tavtigian S; Vreeswijk MP; Parsons M; Meeks HD; Martins A; Goldgar DE; Spurdle AB
Hum Mol Genet; 2016 Jun; 25(11):2256-2268. PubMed ID: 27008870
[TBL] [Abstract][Full Text] [Related]
20. Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.
Yang XR; Devi BCR; Sung H; Guida J; Mucaki EJ; Xiao Y; Best A; Garland L; Xie Y; Hu N; Rodriguez-Herrera M; Wang C; Jones K; Luo W; Hicks B; Tang TS; Moitra K; Rogan PK; Dean M
Breast Cancer Res Treat; 2017 Oct; 165(3):687-697. PubMed ID: 28664506
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
