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Items: 10

1.

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium.

Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8.

2.

Germline mutation in the RAD51B gene confers predisposition to breast cancer.

Golmard L, Caux-Moncoutier V, Davy G, Al Ageeli E, Poirot B, Tirapo C, Michaux D, Barbaroux C, d'Enghien CD, Nicolas A, Castéra L, Sastre-Garau X, Stern MH, Houdayer C, Stoppa-Lyonnet D.

BMC Cancer. 2013 Oct 19;13:484. doi: 10.1186/1471-2407-13-484.

3.

Ploidy and large-scale genomic instability consistently identify basal-like breast carcinomas with BRCA1/2 inactivation.

Popova T, Manié E, Rieunier G, Caux-Moncoutier V, Tirapo C, Dubois T, Delattre O, Sigal-Zafrani B, Bollet M, Longy M, Houdayer C, Sastre-Garau X, Vincent-Salomon A, Stoppa-Lyonnet D, Stern MH.

Cancer Res. 2012 Nov 1;72(21):5454-62. doi: 10.1158/0008-5472.CAN-12-1470. Epub 2012 Aug 29.

4.

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Paligo M, Aretini P; SWE-BRCA, Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON, Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P; EMBRACE, Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B; GEMO Study Collaborators, Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Preisler-Adams S, Simard J, Soucy P, Durocher F, Chenevix-Trench G, Beesley J, Chen X; KConFab, Rebbeck T, Couch F, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Bonanni B, Fortuzzi S, Peissel B, Szabo C, Mai PL, Loud JT, Lubinski J; CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer.

Br J Cancer. 2012 Jun 5;106(12):2016-24. doi: 10.1038/bjc.2012.160. Epub 2012 May 15.

5.

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Putignano AL, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Birk Jensen U, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B, Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona H, Melin B; SWE-BRCA, Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A, Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A, Ramón y Cajal T, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P, Meijers-Heijboer HE, Gómez Garcia EB; HEBON, Peock S, Cook M, Frost D, Platte R, Leyland J, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D, Ong KR, Cook J, Douglas F, Paterson J, Kennedy MJ, Miedzybrodzka Z; EMBRACE, Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol P, Coupier I, Frénay M; CEMO Study Collaborators, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry, Singer CF, Tea MK, Pfeiler G, Dressler AC, Hansen Tv, Jønson L, Ejlertsen B, Barkardottir RB, Kirchhoff T, Offit K, Piedmonte M, Rodriguez G, Small L, Boggess J, Blank S, Basil J, Azodi M, Toland AE, Montagna M, Tognazzo S, Agata S, Imyanitov E, Janavicius R, Lazaro C, Blanco I, Pharoah PD, Sucheston L, Karlan BY, Walsh CS, Olah E, Bozsik A, Teo SH, Seldon JL, Beattie MS, van Rensburg EJ, Sluiter MD, Diez O, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ruehl I, Varon-Mateeva R, Kast K, Deissler H, Niederacher D, Arnold N, Gadzicki D, Schönbuchner I, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Dumont M, Chiquette J, Tischkowitz M, Chen X, Beesley J, Spurdle AB; kConFab investigators, Neuhausen SL, Chun Ding Y, Fredericksen Z, Wang X, Pankratz VS, Couch F, Simard J, Easton DF, Chenevix-Trench G; CIMBA.

Hum Mol Genet. 2011 Aug 15;20(16):3304-21. doi: 10.1093/hmg/ddr226. Epub 2011 May 18.

6.

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Caux-Moncoutier V, Castéra L, Tirapo C, Michaux D, Rémon MA, Laugé A, Rouleau E, De Pauw A, Buecher B, Gauthier-Villars M, Viovy JL, Stoppa-Lyonnet D, Houdayer C.

Hum Mutat. 2011 Mar;32(3):325-34. doi: 10.1002/humu.21414. Epub 2011 Feb 8.

PMID:
21120943
7.

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Walker LC, Fredericksen ZS, Wang X, Tarrell R, Pankratz VS, Lindor NM, Beesley J, Healey S, Chen X; kConFab, Stoppa-Lyonnet D, Tirapo C, Giraud S, Mazoyer S, Muller D, Fricker JP, Delnatte C; GEMO Study Collaborators, Schmutzler RK, Wappenschmidt B, Engel C, Schönbuchner I, Deissler H, Meindl A, Hogervorst FB, Verheus M, Hooning MJ, van den Ouweland AM, Nelen MR, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gerrits MM, Waisfisz Q; HEBON, Szabo CI; ModSQuaD, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Eccles D, Ong KR, Cook J; EMBRACE, Rebbeck T, Nathanson KL, Domchek SM, Singer CF, Gschwantler-Kaulich D, Dressler AC, Pfeiler G, Godwin AK, Heikkinen T, Nevanlinna H, Agnarsson BA, Caligo MA, Olsson H, Kristoffersson U, Liljegren A, Arver B, Karlsson P, Melin B; SWE-BRCA, Sinilnikova OM, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Couch FJ.

Breast Cancer Res. 2010;12(6):R102. doi: 10.1186/bcr2785. Epub 2010 Nov 29.

8.

Contribution of CDKN2A/P16 ( INK4A ), P14 (ARF), CDK4 and BRCA1/2 germline mutations in individuals with suspected genetic predisposition to uveal melanoma.

Buecher B, Gauthier-Villars M, Desjardins L, Lumbroso-Le Rouic L, Levy C, De Pauw A, Bombled J, Tirapo C, Houdayer C, Bressac-de Paillerets B, Stoppa-Lyonnet D.

Fam Cancer. 2010 Dec;9(4):663-7. doi: 10.1007/s10689-010-9379-9.

PMID:
20842456
9.

[Improving pain management in the elderly patient].

Tirapo C; Equipe du Centre intégré de soins palliatifs.

Rev Infirm. 2008 Jul-Aug;(142):33-5. French. No abstract available.

PMID:
18709839
10.

[Dying at home, between desire and reality....].

Javel P, Nativel C, Tirapo C.

Soins. 2003 Sep;(678):63-6. French. No abstract available.

PMID:
14535005

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