237 related articles for article (PubMed ID: 30101128)
1. Quantitative Analysis of
Farber-Katz S; Hsuan V; Wu S; Landrith T; Vuong H; Xu D; Li B; Hoo J; Lam S; Nashed S; Toppmeyer D; Gray P; Haynes G; Lu HM; Elliott A; Tippin Davis B; Karam R
Front Oncol; 2018; 8():286. PubMed ID: 30101128
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
Montalban G; Bonache S; Moles-Fernández A; Gadea N; Tenés A; Torres-Esquius S; Carrasco E; Balmaña J; Diez O; Gutiérrez-Enríquez S
Hum Mutat; 2019 Dec; 40(12):2296-2317. PubMed ID: 31343793
[TBL] [Abstract][Full Text] [Related]
4. BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.
Montalban G; Bonache S; Bach V; Gisbert-Beamud A; Tenés A; Moles-Fernández A; López-Fernández A; Carrasco E; Balmaña J; Diez O; Gutiérrez-Enríquez S
Cancer Genet; 2021 Nov; 258-259():10-17. PubMed ID: 34237702
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.
Rodríguez-Balada M; Roig B; Melé M; Albacar C; Serrano S; Salvat M; Querol M; Borràs J; Martorell L; Gumà J
Clin Biochem; 2020 Feb; 76():17-23. PubMed ID: 31786208
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Diagnostic mRNA splicing assay for variants in
Wangensteen T; Felde CN; Ahmed D; Mæhle L; Ariansen SL
Hered Cancer Clin Pract; 2019; 17():14. PubMed ID: 31143303
[TBL] [Abstract][Full Text] [Related]
9. Investigation of Experimental Factors That Underlie
Lattimore VL; Pearson JF; Currie MJ; Spurdle AB; ; Robinson BA; Walker LC
Front Oncol; 2018; 8():140. PubMed ID: 29774201
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Identification of twenty-nine novel germline unclassified variants of BRCA1 and BRCA2 genes in 1400 Italian individuals.
Santonocito C; Scapaticci M; Guarino D; Bartolini A; Minucci A; Concolino P; Scambia G; Paris I; Capoluongo E
Breast; 2017 Dec; 36():74-78. PubMed ID: 29020660
[TBL] [Abstract][Full Text] [Related]
13. Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
Gambino G; Tancredi M; Falaschi E; Aretini P; Caligo MA
Int J Mol Med; 2015 Apr; 35(4):950-6. PubMed ID: 25683334
[TBL] [Abstract][Full Text] [Related]
14. Reclassifying BRCA1 c.4358-2A > G and BRCA2 c.475 + 5G > C variants from "Uncertain Significance" to "Pathogenic" based on minigene assays and clinical evidence.
Ning Y; Zhang Y; Tian T; Chen Y; Wang J; Lei K; Cui Z
J Cancer Res Clin Oncol; 2024 Feb; 150(2):62. PubMed ID: 38300310
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Genetic variants of prospectively demonstrated phenocopies in
Dominguez-Valentin M; Evans DGR; Nakken S; Tubeuf H; Vodak D; Ekstrøm PO; Nissen AM; Morak M; Holinski-Feder E; Martins A; Møller P; Hovig E
Hered Cancer Clin Pract; 2018; 16():4. PubMed ID: 29371908
[TBL] [Abstract][Full Text] [Related]
18. Characterization of Synonymous
Li J; Wang P; Zhang C; Han S; Xiao H; Liu Z; Wang X; Liu W; Wei B; Ma J; Li H; Guo Y
Front Oncol; 2021; 11():812656. PubMed ID: 35087763
[TBL] [Abstract][Full Text] [Related]
19. Germline
Mehta A; Vasudevan S; Sharma SK; Kumar D; Panigrahi M; Suryavanshi M; Gupta G
Cancer Manag Res; 2018; 10():6505-6516. PubMed ID: 30555256
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]