327 related articles for article (PubMed ID: 26761715)
21. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
22. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
Sanz DJ; Acedo A; Infante M; Durán M; Pérez-Cabornero L; Esteban-Cardeñosa E; Lastra E; Pagani F; Miner C; Velasco EA
Clin Cancer Res; 2010 Mar; 16(6):1957-67. PubMed ID: 20215541
[TBL] [Abstract][Full Text] [Related]
23. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
[TBL] [Abstract][Full Text] [Related]
24. BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.
Mafficini A; Simbolo M; Parisi A; Rusev B; Luchini C; Cataldo I; Piazzola E; Sperandio N; Turri G; Franchi M; Tortora G; Bovo C; Lawlor RT; Scarpa A
Oncotarget; 2016 Jan; 7(2):1076-83. PubMed ID: 26745875
[TBL] [Abstract][Full Text] [Related]
25. Functional analysis of the CTNS gene exonic variants predicted to affect splicing.
Li C; Zhang R; Pan F; Xin Q; Shi X; Guo W; Qiao D; Wang Z; Zhang Y; Liu X; Zhang Y; Shao L
Clin Genet; 2024 Mar; 105(3):323-328. PubMed ID: 38009794
[TBL] [Abstract][Full Text] [Related]
26. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
Scott A; Petrykowska HM; Hefferon T; Gotea V; Elnitski L
J Cyst Fibros; 2012 Dec; 11(6):511-7. PubMed ID: 22591852
[TBL] [Abstract][Full Text] [Related]
27. Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
Byers H; Wallis Y; van Veen EM; Lalloo F; Reay K; Smith P; Wallace AJ; Bowers N; Newman WG; Evans DG
Eur J Hum Genet; 2016 Nov; 24(11):1591-1597. PubMed ID: 27273131
[TBL] [Abstract][Full Text] [Related]
28. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
Gaildrat P; Krieger S; Di Giacomo D; Abdat J; Révillion F; Caputo S; Vaur D; Jamard E; Bohers E; Ledemeney D; Peyrat JP; Houdayer C; Rouleau E; Lidereau R; Frébourg T; Hardouin A; Tosi M; Martins A
J Med Genet; 2012 Oct; 49(10):609-17. PubMed ID: 22962691
[TBL] [Abstract][Full Text] [Related]
29. A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.
Mucaki EJ; Caminsky NG; Perri AM; Lu R; Laederach A; Halvorsen M; Knoll JH; Rogan PK
BMC Med Genomics; 2016 Apr; 9():19. PubMed ID: 27067391
[TBL] [Abstract][Full Text] [Related]
30. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
Gonzalez-Paredes FJ; Ramos-Trujillo E; Claverie-Martin F
Gene; 2014 Aug; 546(2):243-9. PubMed ID: 24907393
[TBL] [Abstract][Full Text] [Related]
31. Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.
Aissat A; de Becdelièvre A; Golmard L; Vasseur C; Costa C; Chaoui A; Martin N; Costes B; Goossens M; Girodon E; Fanen P; Hinzpeter A
Hum Mutat; 2013 Jun; 34(6):873-81. PubMed ID: 23420618
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
Aznarez I; Zielenski J; Rommens JM; Blencowe BJ; Tsui LC
J Med Genet; 2007 May; 44(5):341-6. PubMed ID: 17475917
[TBL] [Abstract][Full Text] [Related]
34. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C; Caux-Moncoutier V; Krieger S; Barrois M; Bonnet F; Bourdon V; Bronner M; Buisson M; Coulet F; Gaildrat P; Lefol C; Léone M; Mazoyer S; Muller D; Remenieras A; Révillion F; Rouleau E; Sokolowska J; Vert JP; Lidereau R; Soubrier F; Sobol H; Sevenet N; Bressac-de Paillerets B; Hardouin A; Tosi M; Sinilnikova OM; Stoppa-Lyonnet D
Hum Mutat; 2012 Aug; 33(8):1228-38. PubMed ID: 22505045
[TBL] [Abstract][Full Text] [Related]
35. Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.
Hernández-Imaz E; Martín Y; de Conti L; Melean G; Valero A; Baralle M; Hernández-Chico C
PLoS One; 2015; 10(10):e0141735. PubMed ID: 26509978
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
Gabaldó Barrios X; Sarabia Meseguer MD; Marín Vera M; Sánchez Bermúdez AI; Macías Cerrolaza JA; Sánchez Henarejos P; Zafra Poves M; García Hernández MR; Cuevas Tortosa E; Aliaga Baño Á; Castillo Guardiola V; Martínez Hernández P; Tovar Zapata I; Martínez Barba E; Ayala de la Peña F; Alonso Romero JL; Noguera Velasco JA; Ruiz Espejo F
Fam Cancer; 2017 Oct; 16(4):477-489. PubMed ID: 28477318
[TBL] [Abstract][Full Text] [Related]
39. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
[TBL] [Abstract][Full Text] [Related]
40. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
Fackenthal JD; Yoshimatsu T; Zhang B; de Garibay GR; Colombo M; De Vecchi G; Ayoub SC; Lal K; Olopade OI; Vega A; Santamariña M; Blanco A; Wappenschmidt B; Becker A; Houdayer C; Walker LC; López-Perolio I; Thomassen M; Parsons M; Whiley P; Blok MJ; Brandão RD; Tserpelis D; Baralle D; Montalban G; Gutiérrez-Enríquez S; Díez O; Lazaro C; ; Spurdle AB; Radice P; de la Hoya M
J Med Genet; 2016 Aug; 53(8):548-58. PubMed ID: 27060066
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
