242 related articles for article (PubMed ID: 35716007)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8.
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]
9. 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]
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. 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]
12. 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]
13. 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]
14. Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A; Bellanger D; Rieunier G; Dubois d'Enghien C; Sophie J; Calvas P; Carriere JP; Anheim M; Castrioto A; Flabeau O; Degos B; Ewenczyk C; Mahlaoui N; Touzot F; Suarez F; Hully M; Roubertie A; Aladjidi N; Tison F; Antoine-Poirel H; Dahan K; Doummar D; Nougues MC; Ioos C; Rougeot C; Masurel A; Bourjault C; Ginglinger E; Prieur F; Siri A; Bordigoni P; Nguyen K; Philippe N; Bellesme C; Demeocq F; Altuzarra C; Mathieu-Dramard M; Couderc F; Dörk T; Auger N; Parfait B; Abidallah K; Moncoutier V; Collet A; Stoppa-Lyonnet D; Stern MH
Hum Mutat; 2019 Oct; 40(10):1713-1730. PubMed ID: 31050087
[TBL] [Abstract][Full Text] [Related]
15. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M; Mesman RLS; Hansen TVO; Menendez M; Rossing M; Esteban-Sánchez A; Tudini E; Törngren T; Parsons MT; Pedersen IS; Teo SH; Kruse TA; Møller P; Borg Å; Jensen UB; Christensen LL; Singer CF; Muhr D; Santamarina M; Brandao R; Andresen BS; Feng BJ; Canson D; Richardson ME; Karam R; Pesaran T; LaDuca H; Conner BR; Abualkheir N; Hoang L; Calléja FMGR; Andrews L; James PA; Bunyan D; Hamblett A; Radice P; Goldgar DE; Walker LC; Engel C; Claes KBM; Macháčková E; Baralle D; Viel A; Wappenschmidt B; Lazaro C; Vega A; ; Vreeswijk MPG; de la Hoya M; Spurdle AB
Hum Mutat; 2022 Dec; 43(12):1921-1944. PubMed ID: 35979650
[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. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN; Telatar M; Becker-Catania S; Liang T; Onengüt S; Tolun A; Chessa L; Sanal O; Bernatowska E; Gatti RA; Concannon P
Am J Hum Genet; 1999 Jun; 64(6):1617-31. PubMed ID: 10330348
[TBL] [Abstract][Full Text] [Related]
18. Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder S; Wieland B; Ohlenbusch A; Yigit G; Altmüller J; Boltshauser E; Dörk T; Brockmann K
Am J Med Genet A; 2020 Dec; 182(12):2971-2975. PubMed ID: 32918381
[TBL] [Abstract][Full Text] [Related]
19. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Feliubadaló L; Moles-Fernández A; Santamariña-Pena M; Sánchez AT; López-Novo A; Porras LM; Blanco A; Capellá G; de la Hoya M; Molina IJ; Osorio A; Pineda M; Rueda D; de la Cruz X; Diez O; Ruiz-Ponte C; Gutiérrez-Enríquez S; Vega A; Lázaro C
Clin Chem; 2021 Mar; 67(3):518-533. PubMed ID: 33280026
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
