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Year Number of Results
1960 1
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1970 3
1985 1
1986 1
1997 1
1998 4
2000 1
2001 3
2002 3
2003 2
2004 3
2005 2
2006 6
2007 5
2008 5
2009 8
2010 11
2011 21
2012 9
2013 11
2014 4
2015 16
2016 15
2017 10
2018 9
2019 8
2020 12
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2022 6
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2024 11
2025 11

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193 results

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Page 1
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, Leslie G, Aalfs CM, Abugattas J, Adlard J, Agata S, Aittomäki K, Andrews L, Andrulis IL, Arason A, Arnold N, Arun BK, Asseryanis E, Auerbach L, Azzollini J, Balmaña J, Barile M, Barkardottir RB, Barrowdale D, Benitez J, Berger A, Berger R, Blanco AM, Blazer KR, Blok MJ, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caldes T, Caliebe A, Caligo MA, Campbell I, Caputo SM, Chiquette J, Chung WK, Claes KBM, Collée JM, Cook J, Davidson R, de la Hoya M, De Leeneer K, de Pauw A, Delnatte C, Diez O, Ding YC, Ditsch N, Domchek SM, Dorfling CM, Velazquez C, Dworniczak B, Eason J, Easton DF, Eeles R, Ehrencrona H, Ejlertsen B; EMBRACE; Engel C, Engert S, Evans DG, Faivre L, Feliubadaló L, Ferrer SF, Foretova L, Fowler J, Frost D, Galvão HCR, Ganz PA, Garber J, Gauthier-Villars M, Gehrig A; GEMO Study Collaborators; Gerdes AM, Gesta P, Giannini G, Giraud S, Glendon G, Godwin AK, Greene MH, Gronwald J, Gutierrez-Barrera A, Hahnen E, Hauke J… See abstract for full author list ➔ Rebbeck TR, et al. Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12. Hum Mutat. 2018. PMID: 29446198 Free PMC article.
Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugières L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaïti-Pellié C, Tinat J, Baert-Desurmont S, Frebourg T. Bougeard G, et al. J Clin Oncol. 2015 Jul 20;33(21):2345-52. doi: 10.1200/JCO.2014.59.5728. Epub 2015 May 26. J Clin Oncol. 2015. PMID: 26014290
Neuromuscular blockers in early acute respiratory distress syndrome.
Papazian L, Forel JM, Gacouin A, Penot-Ragon C, Perrin G, Loundou A, Jaber S, Arnal JM, Perez D, Seghboyan JM, Constantin JM, Courant P, Lefrant JY, Guérin C, Prat G, Morange S, Roch A; ACURASYS Study Investigators. Papazian L, et al. N Engl J Med. 2010 Sep 16;363(12):1107-16. doi: 10.1056/NEJMoa1005372. N Engl J Med. 2010. PMID: 20843245 Free article. Clinical Trial.
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frébourg T, Sobol H, Lasset C, Bonaïti-Pellié C; French Cancer Genetics Network. Bonadona V, et al. JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743. JAMA. 2011. PMID: 21642682
Enteral versus parenteral early nutrition in ventilated adults with shock: a randomised, controlled, multicentre, open-label, parallel-group study (NUTRIREA-2).
Reignier J, Boisramé-Helms J, Brisard L, Lascarrou JB, Ait Hssain A, Anguel N, Argaud L, Asehnoune K, Asfar P, Bellec F, Botoc V, Bretagnol A, Bui HN, Canet E, Da Silva D, Darmon M, Das V, Devaquet J, Djibre M, Ganster F, Garrouste-Orgeas M, Gaudry S, Gontier O, Guérin C, Guidet B, Guitton C, Herbrecht JE, Lacherade JC, Letocart P, Martino F, Maxime V, Mercier E, Mira JP, Nseir S, Piton G, Quenot JP, Richecoeur J, Rigaud JP, Robert R, Rolin N, Schwebel C, Sirodot M, Tinturier F, Thévenin D, Giraudeau B, Le Gouge A; NUTRIREA-2 Trial Investigators; Clinical Research in Intensive Care and Sepsis (CRICS) group. Reignier J, et al. Lancet. 2018 Jan 13;391(10116):133-143. doi: 10.1016/S0140-6736(17)32146-3. Epub 2017 Nov 8. Lancet. 2018. PMID: 29128300 Clinical Trial.
Timing of Renal-Replacement Therapy in Patients with Acute Kidney Injury and Sepsis.
Barbar SD, Clere-Jehl R, Bourredjem A, Hernu R, Montini F, Bruyère R, Lebert C, Bohé J, Badie J, Eraldi JP, Rigaud JP, Levy B, Siami S, Louis G, Bouadma L, Constantin JM, Mercier E, Klouche K, du Cheyron D, Piton G, Annane D, Jaber S, van der Linden T, Blasco G, Mira JP, Schwebel C, Chimot L, Guiot P, Nay MA, Meziani F, Helms J, Roger C, Louart B, Trusson R, Dargent A, Binquet C, Quenot JP; IDEAL-ICU Trial Investigators and the CRICS TRIGGERSEP Network. Barbar SD, et al. N Engl J Med. 2018 Oct 11;379(15):1431-1442. doi: 10.1056/NEJMoa1803213. N Engl J Med. 2018. PMID: 30304656 Free article. Clinical Trial.
Pregnancy After Breast Cancer in Young BRCA Carriers: An International Hospital-Based Cohort Study.
Lambertini M, Blondeaux E, Agostinetto E, Hamy AS, Kim HJ, Di Meglio A, Bernstein Molho R, Hilbers F, Pogoda K, Carrasco E, Punie K, Bajpai J, Ignatiadis M, Moore HCF, Phillips KA, Toss A, Rousset-Jablonski C, Peccatori FA, Renaud T, Ferrari A, Paluch-Shimon S, Fruscio R, Cui W, Wong SM, Vernieri C, Ruddy KJ, Dieci MV, Matikas A, Rozenblit M, Villarreal-Garza C, De Marchis L, Del Mastro L, Puglisi F, Del Pilar Estevez-Diz M, Rodriguez-Wallberg KA, Mrinakova B, Meister S, Livraghi L, Clatot F, Yerushalmi R, De Angelis C, Sánchez-Bayona R, Meattini I, Cichowska-Cwalinska N, Berlière M, Salama M, De Giorgi U, Sonnenblick A, Chiodi C, Lee YJ, Maria C, Azim HA Jr, Boni L, Partridge AH; BRCA BCY Collaboration. Lambertini M, et al. JAMA. 2024 Jan 2;331(1):49-59. doi: 10.1001/jama.2023.25463. JAMA. 2024. PMID: 38059899 Free PMC article.
Reply to V. Bonadona et al.
Engel C, Vasen HF. Engel C, et al. J Clin Oncol. 2013 Jun 10;31(17):2230. doi: 10.1200/JCO.2013.49.0433. J Clin Oncol. 2013. PMID: 23901422 No abstract available.
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, Edery P, Bottani A, Layet V, Caron O, Gilbert-Dussardier B, Delnatte C, Dugast C, Fricker JP, Bonneau D, Sevenet N, Longy M, Caux F; French Cowden Disease Network. Bubien V, et al. J Med Genet. 2013 Apr;50(4):255-63. doi: 10.1136/jmedgenet-2012-101339. Epub 2013 Jan 18. J Med Genet. 2013. PMID: 23335809 Free article.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M, Lecerf C, Le … See abstract for full author list ➔ Caputo SM, et al. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 Free PMC article.
193 results