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Items: 25

1.

gwasrapidd: an R package to query, download and wrangle GWAS Catalog data.

Magno R, Maia AT.

Bioinformatics. 2019 Aug 2. pii: btz605. doi: 10.1093/bioinformatics/btz605. [Epub ahead of print]

PMID:
31373609
2.

Epigenetic therapy in urologic cancers: an update on clinical trials.

Faleiro I, Leão R, Binnie A, de Mello RA, Maia AT, Castelo-Branco P.

Oncotarget. 2017 Feb 14;8(7):12484-12500. doi: 10.18632/oncotarget.14226. Review.

3.

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Peterlongo P, Chang-Claude J, Moysich KB, Rudolph A, Schmutzler RK, Simard J, Soucy P, Eeles RA, Easton DF, Hamann U, Wilkening S, Chen B, Rookus MA, Schmidt MK, van der Baan FH, Spurdle AB, Walker LC, Lose F, Maia AT, Montagna M, Matricardi L, Lubinski J, Jakubowska A, Gómez Garcia EB, Olopade OI, Nussbaum RL, Nathanson KL, Domchek SM, Rebbeck TR, Arun BK, Karlan BY, Orsulic S, Lester J, Chung WK, Miron A, Southey MC, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Ding YC, Neuhausen SL, Hansen TV, Gerdes AM, Ejlertsen B, Jønson L, Osorio A, Martínez-Bouzas C, Benitez J, Conway EE, Blazer KR, Weitzel JN, Manoukian S, Peissel B, Zaffaroni D, Scuvera G, Barile M, Ficarazzi F, Mariette F, Fortuzzi S, Viel A, Giannini G, Papi L, Martayan A, Tibiletti MG, Radice P, Vratimos A, Fostira F, Garber JE, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Davidson R, Hodgson SV, Ellis S, Cole T; EMBRACE, Godwin AK, Claes K, Van Maerken T, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Plendl H, Kast K, Rhiem K, Ditsch N, Arnold N, Varon-Mateeva R, Wappenschmidt B, Wang-Gohrke S, Bressac-de Paillerets B, Buecher B, Delnatte C, Houdayer C, Stoppa-Lyonnet D, Damiola F, Coupier I, Barjhoux L, Venat-Bouvet L, Golmard L, Boutry-Kryza N, Sinilnikova OM, Caron O, Pujol P, Mazoyer S, Belotti M; GEMO Study Collaborators, Piedmonte M, Friedlander ML, Rodriguez GC, Copeland LJ, de la Hoya M, Segura PP, Nevanlinna H, Aittomäki K, van Os TA, Meijers-Heijboer HE, van der Hout AH, Vreeswijk MP, Hoogerbrugge N, Ausems MG, van Doorn HC, Collée JM; HEBON, Olah E, Diez O, Blanco I, Lazaro C, Brunet J, Feliubadalo L, Cybulski C, Gronwald J, Durda K, Jaworska-Bieniek K, Sukiennicki G, Arason A, Chiquette J, Teixeira MR, Olswold C, Couch FJ, Lindor NM, Wang X, Szabo CI, Offit K, Corines M, Jacobs L, Robson ME, Zhang L, Joseph V, Berger A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Greene MH, Mai PL, Rennert G, Mulligan AM, Glendon G, Tchatchou S, Andrulis IL, Toland AE, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Laitman Y, Rantala J, von Wachenfeldt A, Ehrencrona H, Askmalm MS, Borg Å, Kuchenbaecker KB, McGuffog L, Barrowdale D, Healey S, Lee A, Pharoah PD, Chenevix-Trench G; KConFab Investigators, Antoniou AC, Friedman E.

Cancer Epidemiol Biomarkers Prev. 2015 Jan;24(1):308-16. doi: 10.1158/1055-9965.EPI-14-0532. Epub 2014 Oct 21.

4.

TOX3 mutations in breast cancer.

Jones JO, Chin SF, Wong-Taylor LA, Leaford D, Ponder BA, Caldas C, Maia AT.

PLoS One. 2013 Sep 19;8(9):e74102. doi: 10.1371/journal.pone.0074102. eCollection 2013.

5.

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.

French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E, Beesley J, Tyrer J, Maia AT, Beck A, Knoblauch NW, Chen C, Kraft P, Barnes D, González-Neira A, Alonso MR, Herrero D, Tessier DC, Vincent D, Bacot F, Luccarini C, Baynes C, Conroy D, Dennis J, Bolla MK, Wang Q, Hopper JL, Southey MC, Schmidt MK, Broeks A, Verhoef S, Cornelissen S, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Fasching PA, Loehberg CR, Ekici AB, Beckmann MW, Peto J, dos Santos Silva I, Johnson N, Aitken Z, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guénel P, Truong T, Laurent-Puig P, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Zamora MP, Arias Perez JI, Benitez J, Anton-Culver H, Brenner H, Müller H, Arndt V, Stegmaier C, Meindl A, Lichtner P, Schmutzler RK, Engel C, Brauch H, Hamann U, Justenhoven C; GENICA Network, Aaltonen K, Heikkilä P, Aittomäki K, Blomqvist C, Matsuo K, Ito H, Iwata H, Sueta A, Bogdanova NV, Antonenkova NN, Dörk T, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM; kConFab Investigators, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Lambrechts D, Peeters S, Smeets A, Floris G, Chang-Claude J, Rudolph A, Nickels S, Flesch-Janys D, Radice P, Peterlongo P, Bonanni B, Sardella D, Couch FJ, Wang X, Pankratz VS, Lee A, Giles GG, Severi G, Baglietto L, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Simard J, Goldberg MS, Labrèche F, Dumont M, Teo SH, Yip CH, Ng CH, Vithana EN, Kristensen V, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Devilee P, Seynaeve C, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Klevebring D, Schoof N, Hooning MJ, Martens JW, Collée JM, Tilanus-Linthorst M, Hall P, Li J, Liu J, Humphreys K, Shu XO, Lu W, Gao YT, Cai H, Cox A, Balasubramanian SP, Blot W, Signorello LB, Cai Q, Pharoah PD, Healey CS, Shah M, Pooley KA, Kang D, Yoo KY, Noh DY, Hartman M, Miao H, Sng JH, Sim X, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Sangrajrang S, Gaborieau V, McKay J, Toland AE, Ambrosone CB, Yannoukakos D, Godwin AK, Shen CY, Hsiung CN, Wu PE, Chen ST, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, Ponder BA, Nevanlinna H, Brown MA, Chenevix-Trench G, Easton DF, Dunning AM.

Am J Hum Genet. 2013 Apr 4;92(4):489-503. doi: 10.1016/j.ajhg.2013.01.002. Epub 2013 Mar 27.

6.

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.

Maia AT, Antoniou AC, O'Reilly M, Samarajiwa S, Dunning M, Kartsonaki C, Chin SF, Curtis CN, McGuffog L, Domchek SM; EMBRACE, Easton DF, Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Eccles D; GEMO Study Collaborators, Sinilnikova OM, Mazoyer S, Stoppa-Lyonnet D, Gauthier-Villars M, Faivre L, Venat-Bouvet L, Delnatte C, Nevanlinna H, Couch FJ, Godwin AK, Caligo MA; SWE-BRCA, Barkardottir RB; kConFab Investigators, Chen X, Beesley J, Healey S, Caldas C, Chenevix-Trench G, Ponder BA.

Breast Cancer Res. 2012 Apr 18;14(2):R63.

7.

Allele-specific expression analysis methods for high-density SNP microarray data.

Liu R, Maia AT, Russell R, Caldas C, Ponder BA, Ritchie ME.

Bioinformatics. 2012 Apr 15;28(8):1102-8. doi: 10.1093/bioinformatics/bts089. Epub 2012 Feb 21.

PMID:
22355082
8.

A functional variant at a prostate cancer predisposition locus at 8q24 is associated with PVT1 expression.

Meyer KB, Maia AT, O'Reilly M, Ghoussaini M, Prathalingam R, Porter-Gill P, Ambs S, Prokunina-Olsson L, Carroll J, Ponder BA.

PLoS Genet. 2011 Jul;7(7):e1002165. doi: 10.1371/journal.pgen.1002165. Epub 2011 Jul 21.

9.

Common germ-line polymorphism of C1QA and breast cancer survival.

Azzato EM, Lee AJ, Teschendorff A, Ponder BA, Pharoah P, Caldas C, Maia AT.

Br J Cancer. 2010 Apr 13;102(8):1294-9. doi: 10.1038/sj.bjc.6605625. Epub 2010 Mar 23.

10.

Fine scale mapping of the breast cancer 16q12 locus.

Udler MS, Ahmed S, Healey CS, Meyer K, Struewing J, Maranian M, Kwon EM, Zhang J, Tyrer J, Karlins E, Platte R, Kalmyrzaev B, Dicks E, Field H, Maia AT, Prathalingam R, Teschendorff A, McArthur S, Doody DR, Luben R, Caldas C, Bernstein L, Kolonel LK, Henderson BE, Wu AH, Le Marchand L, Ursin G, Press MF, Lindblom A, Margolin S, Shen CY, Yang SL, Hsiung CN, Kang D, Yoo KY, Noh DY, Ahn SH, Malone KE, Haiman CA, Pharoah PD, Ponder BA, Ostrander EA, Easton DF, Dunning AM.

Hum Mol Genet. 2010 Jun 15;19(12):2507-15. doi: 10.1093/hmg/ddq122. Epub 2010 Mar 23.

11.

Identification of a 0.4 Kb deletion region in 10q26 associated with endometrial carcinoma.

Alves M, Carreira I, Liberato P, Ramos S, Mafra M, Inverno AS, Maia AT, Martins AP, Brito M, Monteiro C.

Oncol Rep. 2010 Feb;23(2):519-22.

PMID:
20043116
12.

Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.

Maia AT, Spiteri I, Lee AJ, O'Reilly M, Jones L, Caldas C, Ponder BA.

Breast Cancer Res. 2009;11(6):R88. doi: 10.1186/bcr2458. Epub 2009 Dec 10.

13.

Association of ESR1 gene tagging SNPs with breast cancer risk.

Dunning AM, Healey CS, Baynes C, Maia AT, Scollen S, Vega A, Rodríguez R, Barbosa-Morais NL, Ponder BA; SEARCH, Low YL, Bingham S; EPIC, Haiman CA, Le Marchand L; MEC, Broeks A, Schmidt MK; ABCS, Hopper J, Southey M; ABCFS, Beckmann MW, Fasching PA; BBCC, Peto J, Johnson N; BBCS, Bojesen SE, Nordestgaard B; CGPS, Milne RL, Benitez J; CNIO-BCS, Hamann U, Ko Y; GENICA, Schmutzler RK, Burwinkel B; GC-HBOC, Schürmann P, Dörk T; HABCS, Heikkinen T, Nevanlinna H; HEBCS, Lindblom A, Margolin S; KARBAC, Mannermaa A, Kosma VM; KBCS, Chen X, Spurdle A; kConFab and the AOCS Management Group, Change-Claude J, Flesch-Janys D; MARIE, Couch FJ, Olson JE; for MCBCS, Severi G, Baglietto L; MCCS, Børresen-Dale AL, Kristensen V; NBCS, Hunter DJ, Hankinson SE; NHS, Devilee P, Vreeswijk M; ORIGO, Lissowska J, Brinton L; PBCS, Liu J, Hall P; SASBAC, Kang D, Yoo KY; SEBCS, Shen CY, Yu JC; TWBCS, Anton-Culver H, Ziogoas A; UCIBCS, Sigurdson A, Struewing J; USRTS, Easton DF, Garcia-Closas M, Humphreys MK, Morrison J, Pharoah PD, Pooley KA, Chenevix-Trench G; BCAC.

Hum Mol Genet. 2009 Mar 15;18(6):1131-9. doi: 10.1093/hmg/ddn429. Epub 2009 Jan 6.

14.

Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer.

Barber M, Murrell A, Ito Y, Maia AT, Hyland S, Oliveira C, Save V, Carneiro F, Paterson AL, Grehan N, Dwerryhouse S, Lao-Sirieix P, Caldas C, Fitzgerald RC.

J Pathol. 2008 Nov;216(3):295-306. doi: 10.1002/path.2426.

PMID:
18788075
15.

Somatically acquired hypomethylation of IGF2 in breast and colorectal cancer.

Ito Y, Koessler T, Ibrahim AE, Rai S, Vowler SL, Abu-Amero S, Silva AL, Maia AT, Huddleston JE, Uribe-Lewis S, Woodfine K, Jagodic M, Nativio R, Dunning A, Moore G, Klenova E, Bingham S, Pharoah PD, Brenton JD, Beck S, Sandhu MS, Murrell A.

Hum Mol Genet. 2008 Sep 1;17(17):2633-43. doi: 10.1093/hmg/ddn163. Epub 2008 Jun 9.

16.

Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.

Meyer KB, Maia AT, O'Reilly M, Teschendorff AE, Chin SF, Caldas C, Ponder BA.

PLoS Biol. 2008 May 6;6(5):e108. doi: 10.1371/journal.pbio.0060108.

17.

Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer.

Udler M, Maia AT, Cebrian A, Brown C, Greenberg D, Shah M, Caldas C, Dunning A, Easton D, Ponder B, Pharoah P.

J Clin Oncol. 2007 Jul 20;25(21):3015-23.

PMID:
17634480
18.

Metabolic consequences of p300 gene deletion in human colon cancer cells.

Bundy JG, Iyer NG, Gentile MS, Hu DE, Kettunen M, Maia AT, Thorne NP, Brenton JD, Caldas C, Brindle KM.

Cancer Res. 2006 Aug 1;66(15):7606-14.

19.

Identification of preleukemic precursors of hyperdiploid acute lymphoblastic leukemia in cord blood.

Maia AT, Tussiwand R, Cazzaniga G, Rebulla P, Colman S, Biondi A, Greaves M.

Genes Chromosomes Cancer. 2004 May;40(1):38-43.

PMID:
15034866
20.

Protracted postnatal natural histories in childhood leukemia.

Maia AT, Koechling J, Corbett R, Metzler M, Wiemels JL, Greaves M.

Genes Chromosomes Cancer. 2004 Apr;39(4):335-40.

PMID:
14978794
21.

Pre-natal, clonal origin of acute lymphoblastic leukaemia in triplets.

Zuna J, Muzikova K, Ford AM, Maia AT, Krejci O, Tousovska K, Oravkinova I, Greaves M, Trka J.

Leuk Lymphoma. 2003 Dec;44(12):2099-102.

PMID:
14959854
22.

Prenatal origin of hyperdiploid acute lymphoblastic leukemia in identical twins.

Maia AT, van der Velden VH, Harrison CJ, Szczepanski T, Williams MD, Griffiths MJ, van Dongen JJ, Greaves MF.

Leukemia. 2003 Nov;17(11):2202-6.

PMID:
12931229
23.

Leukemia in twins: lessons in natural history.

Greaves MF, Maia AT, Wiemels JL, Ford AM.

Blood. 2003 Oct 1;102(7):2321-33. Epub 2003 Jun 5. Review.

PMID:
12791663
24.

In utero origin of t(8;21) AML1-ETO translocations in childhood acute myeloid leukemia.

Wiemels JL, Xiao Z, Buffler PA, Maia AT, Ma X, Dicks BM, Smith MT, Zhang L, Feusner J, Wiencke J, Pritchard-Jones K, Kempski H, Greaves M.

Blood. 2002 May 15;99(10):3801-5.

PMID:
11986239
25.

Molecular tracking of leukemogenesis in a triplet pregnancy.

Maia AT, Ford AM, Jalali GR, Harrison CJ, Taylor GM, Eden OB, Greaves MF.

Blood. 2001 Jul 15;98(2):478-82.

PMID:
11435320

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