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Results: 1 to 20 of 105

Similar articles for PubMed (Select 21719596)

1.

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

Biswas K, Das R, Alter BP, Kuznetsov SG, Stauffer S, North SL, Burkett S, Brody LC, Meyer S, Byrd RA, Sharan SK.

Blood. 2011 Sep 1;118(9):2430-42. doi: 10.1182/blood-2010-12-324541. Epub 2011 Jun 30.

2.

Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle.

Pausch H, Schwarzenbacher H, Burgstaller J, Flisikowski K, Wurmser C, Jansen S, Jung S, Schnieke A, Wittek T, Fries R.

BMC Genomics. 2015 Apr 18;16:312. doi: 10.1186/s12864-015-1483-7.

3.

Brca2 deficiency leads to T cell loss and immune dysfunction.

Jeong JH, Jo A, Park P, Lee H, Lee HO.

Mol Cells. 2015 Mar;38(3):251-8. doi: 10.14348/molcells.2015.2302. Epub 2015 Feb 4.

4.

Genome annotation by shotgun inactivation of a native gene in hemizygous cells: application to BRCA2 with implication of hypomorphic variants.

Ghosh S, Bhunia AK, Paun BC, Gilbert SF, Dhru U, Patel K, Kern SE.

Hum Mutat. 2015 Feb;36(2):260-9. doi: 10.1002/humu.22736.

PMID:
25451944
5.

BRCA2-associated therapy-related acute myeloid leukemia.

Rashidi A, Amarillo I, Fisher SI.

Med Oncol. 2015 Jan;32(1):371. doi: 10.1007/s12032-014-0371-3. Epub 2014 Nov 27. No abstract available.

PMID:
25428384
6.

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. doi: 10.1002/humu.22725.

7.

An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

Hendriks G, Morolli B, Calléja FM, Plomp A, Mesman RL, Meijers M, Sharan SK, Vreeswijk MP, Vrieling H.

Hum Mutat. 2014 Nov;35(11):1382-91. doi: 10.1002/humu.22678. Epub 2014 Sep 11.

PMID:
25146914
8.

A novel splice site mutation in the noncoding region of BRCA2: implications for Fanconi anemia and familial breast cancer diagnostics.

Bakker JL, Thirthagiri E, van Mil SE, Adank MA, Ikeda H, Verheul HM, Meijers-Heijboer H, de Winter JP, Sharan SK, Waisfisz Q.

Hum Mutat. 2014 Apr;35(4):442-6. doi: 10.1002/humu.22505. Epub 2014 Feb 15.

9.

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

Parsons MT, Whiley PJ, Beesley J, Drost M, de Wind N, Thompson BA, Marquart L, Hopper JL, Jenkins MA; Australasian Colorectal Cancer Family Registry, Brown MA, Tucker K, Warwick L, Buchanan DD, Spurdle AB.

Mol Carcinog. 2015 Jul;54(7):513-22. doi: 10.1002/mc.22116. Epub 2013 Dec 2.

PMID:
24302565
10.

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Degrolard-Courcet E, Sokolowska J, Padeano MM, Guiu S, Bronner M, Chery C, Coron F, Lepage C, Chapusot C, Loustalot C, Jouve JL, Hatem C, Ferrant E, Martin L, Coutant C, Baurand A, Couillault G, Delignette A, El Chehadeh S, Lizard S, Arnould L, Fumoleau P, Callier P, Mugneret F, Philippe C, Frebourg T, Jonveaux P, Faivre L.

Eur J Hum Genet. 2014 Aug;22(8):979-87. doi: 10.1038/ejhg.2013.278. Epub 2013 Dec 4. Review.

PMID:
24301060
11.

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling.

Meyer S, Tischkowitz M, Chandler K, Gillespie A, Birch JM, Evans DG.

J Med Genet. 2014 Feb;51(2):71-5. doi: 10.1136/jmedgenet-2013-101642. Epub 2013 Nov 20. Review.

PMID:
24259538
12.

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. doi: 10.1002/humu.22456. Epub 2013 Oct 28.

PMID:
24123850
13.

Interleukin-2-induced graft-versus-leukemia for the treatment of AML in a BRCA2 Fanconi anemia patient.

Yeo CJ, Gilman AL.

J Pediatr Hematol Oncol. 2014 Mar;36(2):e78-80. doi: 10.1097/MPH.0b013e31828e5c56.

PMID:
23619121
14.

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. doi: 10.1136/jmedgenet-2012-100965. Epub 2012 Sep 7.

PMID:
22962691
15.

[Evaluation of variants of unknown significance in the BRCA2 gene].

Heczková M, Macháčková E, Jirsa M, Spičák J, Foretová L, Hucl T.

Klin Onkol. 2012;25 Suppl:S87-95. Review. Czech.

PMID:
22920214
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 25;14(3):R87.

17.

An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Muller D, Rouleau E, Schultz I, Caputo S, Lefol C, Bièche I, Caron O, Noguès C, Limacher JM, Demange L, Lidereau R, Fricker JP, Abecassis J.

BMC Med Genet. 2011 Sep 22;12:121. doi: 10.1186/1471-2350-12-121.

18.

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. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.

PMID:
21769658
19.

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

Théry JC, Krieger S, Gaildrat P, Révillion F, Buisine MP, Killian A, Duponchel C, Rousselin A, Vaur D, Peyrat JP, Berthet P, Frébourg T, Martins A, Hardouin A, Tosi M.

Eur J Hum Genet. 2011 Oct;19(10):1052-8. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15.

20.

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA.

Pediatr Blood Cancer. 2012 Mar;58(3):462-5. doi: 10.1002/pbc.23168. Epub 2011 May 5.

PMID:
21548014
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