212 related articles for article (PubMed ID: 31191615)
21. 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]
22. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.
Whiley PJ; Pettigrew CA; Brewster BL; Walker LC; ; Spurdle AB; Brown MA
BMC Med Genet; 2010 May; 11():80. PubMed ID: 20507642
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Han Y; Zhao X; Wang S; Wang C; Tian D; Lang Y; Bottillo I; Wang X; Shao L
Endocrine; 2019 Jun; 64(3):708-718. PubMed ID: 30790175
[TBL] [Abstract][Full Text] [Related]
25. Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Mesman RLS; Calléja FMGR; de la Hoya M; Devilee P; van Asperen CJ; Vrieling H; Vreeswijk MPG
Genet Med; 2020 Aug; 22(8):1355-1365. PubMed ID: 32398771
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.
Campos B; Díez O; Domènech M; Baena M; Balmaña J; Sanz J; Ramírez A; Alonso C; Baiget M
Hum Mutat; 2003 Oct; 22(4):337. PubMed ID: 12955719
[TBL] [Abstract][Full Text] [Related]
28. Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A; Duran-Lozano L; Montalban G; Bonache S; López-Perolio I; Menéndez M; Santamariña M; Behar R; Blanco A; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Capellá G; Pineda M; Vega A; Lázaro C; de la Hoya M; Diez O; Gutiérrez-Enríquez S
Front Genet; 2018; 9():366. PubMed ID: 30233647
[No Abstract] [Full Text] [Related]
29. Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.
de Garibay GR; Acedo A; García-Casado Z; Gutiérrez-Enríquez S; Tosar A; Romero A; Garre P; Llort G; Thomassen M; Díez O; Pérez-Segura P; Díaz-Rubio E; Velasco EA; Caldés T; de la Hoya M
Hum Mutat; 2014 Jan; 35(1):53-7. PubMed ID: 24123850
[TBL] [Abstract][Full Text] [Related]
30.
Gailite L; Valenzuela-Palomo A; Sanoguera-Miralles L; Rots D; Kreile M; Velasco EA
Front Genet; 2020; 11():169. PubMed ID: 32211025
[TBL] [Abstract][Full Text] [Related]
31. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
Bonnet C; Krieger S; Vezain M; Rousselin A; Tournier I; Martins A; Berthet P; Chevrier A; Dugast C; Layet V; Rossi A; Lidereau R; Frébourg T; Hardouin A; Tosi M
J Med Genet; 2008 Jul; 45(7):438-46. PubMed ID: 18424508
[TBL] [Abstract][Full Text] [Related]
32. Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
Di Giacomo D; Gaildrat P; Abuli A; Abdat J; Frébourg T; Tosi M; Martins A
Hum Mutat; 2013 Nov; 34(11):1547-57. PubMed ID: 23983145
[TBL] [Abstract][Full Text] [Related]
33. Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
Tesoriero AA; Wong EM; Jenkins MA; Hopper JL; Brown MA; Chenevix-Trench G; Spurdle AB; Southey MC;
Hum Mutat; 2005 Nov; 26(5):495. PubMed ID: 16211554
[TBL] [Abstract][Full Text] [Related]
34. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Whiley PJ; Guidugli L; Walker LC; Healey S; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Couch FJ; Spurdle AB
Hum Mutat; 2011 Jun; 32(6):678-87. PubMed ID: 21394826
[TBL] [Abstract][Full Text] [Related]
35. Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Colombo M; De Vecchi G; Caleca L; Foglia C; Ripamonti CB; Ficarazzi F; Barile M; Varesco L; Peissel B; Manoukian S; Radice P
PLoS One; 2013; 8(2):e57173. PubMed ID: 23451180
[TBL] [Abstract][Full Text] [Related]
36. In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.
Rodríguez-Balada M; Roig B; Martorell L; Melé M; Salvat M; Vilella E; Borràs J; Gumà J
Cancer Genet; 2016 Nov; 209(11):487-492. PubMed ID: 27886673
[TBL] [Abstract][Full Text] [Related]
37. Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
Nix P; Mundt E; Coffee B; Goossen E; Warf BM; Brown K; Bowles K; Roa B
Fam Cancer; 2022 Jan; 21(1):7-19. PubMed ID: 33469799
[TBL] [Abstract][Full Text] [Related]
38. Screening of
Montalban G; Bonache S; Moles-Fernández A; Gisbert-Beamud A; Tenés A; Bach V; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Diez O; Gutiérrez-Enríquez S
J Med Genet; 2019 Feb; 56(2):63-74. PubMed ID: 30472649
[TBL] [Abstract][Full Text] [Related]
39. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Montalban G; Fraile-Bethencourt E; López-Perolio I; Pérez-Segura P; Infante M; Durán M; Alonso-Cerezo MC; López-Fernández A; Diez O; de la Hoya M; Velasco EA; Gutiérrez-Enríquez S
Hum Mutat; 2018 Sep; 39(9):1155-1160. PubMed ID: 29969168
[TBL] [Abstract][Full Text] [Related]
40. Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
Anczuków O; Buisson M; Salles MJ; Triboulet S; Longy M; Lidereau R; Sinilnikova OM; Mazoyer S
Genes Chromosomes Cancer; 2008 May; 47(5):418-26. PubMed ID: 18273839
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
