281 related articles for article (PubMed ID: 20522429)
21. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M; Blanco A; Montagna M; Hansen TV; Pedersen IS; Gutiérrez-Enríquez S; Menéndez M; Fachal L; Santamariña M; Steffensen AY; Jønson L; Agata S; Whiley P; Tognazzo S; Tornero E; Jensen UB; Balmaña J; Kruse TA; Goldgar DE; Lázaro C; Diez O; Spurdle AB; Vega A
Breast Cancer Res Treat; 2012 Apr; 132(3):1009-23. PubMed ID: 21769658
[TBL] [Abstract][Full Text] [Related]
22. A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.
Gonçalves V; Theisen P; Antunes O; Medeira A; Ramos JS; Jordan P; Isidro G
Mutat Res; 2009 Mar; 662(1-2):33-6. PubMed ID: 19111562
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
[TBL] [Abstract][Full Text] [Related]
25. Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families.
Montagna M; Santacatterina M; Torri A; Menin C; Zullato D; Chieco-Bianchi L; D'Andrea E
Oncogene; 1999 Jul; 18(28):4160-5. PubMed ID: 10435598
[TBL] [Abstract][Full Text] [Related]
26. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
Shiga N; Takeshima Y; Sakamoto H; Inoue K; Yokota Y; Yokoyama M; Matsuo M
J Clin Invest; 1997 Nov; 100(9):2204-10. PubMed ID: 9410897
[TBL] [Abstract][Full Text] [Related]
27. Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.
Yang Y; Swaminathan S; Martin BK; Sharan SK
Hum Mol Genet; 2003 Sep; 12(17):2121-31. PubMed ID: 12915465
[TBL] [Abstract][Full Text] [Related]
28. The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.
Gutiérrez-Enríquez S; Coderch V; Masas M; Balmaña J; Diez O
Breast Cancer Res Treat; 2009 Sep; 117(2):461-5. PubMed ID: 18712473
[TBL] [Abstract][Full Text] [Related]
29. Identification of a novel BRCA1 large genomic rearrangement in a Spanish breast/ovarian cancer family.
Palanca Suela S; Esteban Cardeñosa E; Barragán González E; Oltra Soler S; de Juan Jiménez I; Chirivella González I; Segura Huerta A; Guillén Ponce C; Martínez de Dueñas E; Bolufer Gilabert P;
Breast Cancer Res Treat; 2008 Nov; 112(1):63-7. PubMed ID: 18060491
[TBL] [Abstract][Full Text] [Related]
30. The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping.
Hansen TV; Steffensen AY; Jønson L; Andersen MK; Ejlertsen B; Nielsen FC
Breast Cancer Res Treat; 2010 Feb; 119(3):547-50. PubMed ID: 19267246
[TBL] [Abstract][Full Text] [Related]
31. Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.
Pettigrew CA; Wayte N; Wronski A; Lovelock PK; Spurdle AB; Brown MA
Breast Cancer Res Treat; 2008 Jul; 110(2):227-34. PubMed ID: 17899372
[TBL] [Abstract][Full Text] [Related]
32. Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.
Vitale L; Frabetti F; Huntsman SA; Canaider S; Casadei R; Lenzi L; Facchin F; Carinci P; Zannotti M; Coppola D; Strippoli P
BMC Cancer; 2007 Apr; 7():66. PubMed ID: 17442112
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
Duponchel C; Djenouhat K; Frémeaux-Bacchi V; Monnier N; Drouet C; Tosi M
Hum Mutat; 2006 Mar; 27(3):295-6. PubMed ID: 16470590
[TBL] [Abstract][Full Text] [Related]
35. Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.
Beristain E; Martínez-Bouzas C; Guerra I; Viguera N; Moreno J; Ibañez E; Díez J; Rodríguez F; Mallabiabarrena G; Luján S; Gorostiaga J; De Pablo JL; Mendizabal JL; Tejada MI
Breast Cancer Res Treat; 2007 Dec; 106(2):255-62. PubMed ID: 17262179
[TBL] [Abstract][Full Text] [Related]
36. A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation.
Hartikainen JM; Pirskanen MM; Arffman AH; Ristonmaa UK; Mannermaa AJ
Hum Mutat; 2000 Jan; 15(1):120. PubMed ID: 10612843
[No Abstract] [Full Text] [Related]
37. A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17.
Puget N; Torchard D; Serova-Sinilnikova OM; Lynch HT; Feunteun J; Lenoir GM; Mazoyer S
Cancer Res; 1997 Mar; 57(5):828-31. PubMed ID: 9041180
[TBL] [Abstract][Full Text] [Related]
38. BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.
Malacrida S; Agata S; Callegaro M; Casella C; Barana D; Scaini MC; Manoukian S; Oliani C; Radice P; Barile M; Menin C; D'Andrea E; Montagna M
J Clin Oncol; 2008 Jan; 26(1):26-31. PubMed ID: 18165637
[TBL] [Abstract][Full Text] [Related]
39. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.
Spurdle AB; Lakhani SR; Healey S; Parry S; Da Silva LM; Brinkworth R; Hopper JL; Brown MA; Babikyan D; Chenevix-Trench G; Tavtigian SV; Goldgar DE;
J Clin Oncol; 2008 Apr; 26(10):1657-63. PubMed ID: 18375895
[TBL] [Abstract][Full Text] [Related]
40. A missense variant within BRCA1 exon 23 causing exon skipping.
Rouleau E; Lefol C; Moncoutier V; Castera L; Houdayer C; Caputo S; Bièche I; Buisson M; Mazoyer S; Stoppa-Lyonnet D; Noguès C; Lidereau R
Cancer Genet Cytogenet; 2010 Oct; 202(2):144-6. PubMed ID: 20875879
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
