Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 206

1.

Oral anticoagulants for left atrial thrombus resolution in nonvalvular atrial fibrillation or flutter: Building the pyramid of evidence for off-label drug use.

Hussain A, Katz WE, Genuardi MV, Bhonsale A, Jain SK, Kancharla K, Saba S, Shalaby AA, Voigt AH, Wang NC.

Pacing Clin Electrophysiol. 2019 Oct 10. doi: 10.1111/pace.13808. [Epub ahead of print] No abstract available.

PMID:
31599452
2.

A Case Report of Cardiac Transplantation for Isolated Cardiomyopathy Associated With Propionic Acidemia.

Genuardi MV, Kagawa H, Minervini M, Mathier MA, Sciortino C.

Prog Transplant. 2019 Sep 2:1526924819874390. doi: 10.1177/1526924819874390. [Epub ahead of print] No abstract available.

PMID:
31476933
3.

Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias.

Narducci ML, Pelargonio G, La Rosa G, Inzani F, d'Amati G, Novelli V, Marano R, Perna F, Bencardino G, Pinnacchio G, Genuardi M, Cammarano M, Palmieri V, Zeppilli P, Crea F.

Heart Rhythm. 2019 Aug 28. pii: S1547-5271(19)30809-4. doi: 10.1016/j.hrthm.2019.08.022. [Epub ahead of print]

PMID:
31470130
4.

Non-vitamin K oral anticoagulants versus warfarin for left atrial appendage thrombus resolution in nonvalvular atrial fibrillation or flutter.

Hussain A, Katz WE, Genuardi MV, Bhonsale A, Jain SK, Kancharla K, Saba S, Shalaby AA, Voigt AH, Wang NC.

Pacing Clin Electrophysiol. 2019 Sep;42(9):1183-1190. doi: 10.1111/pace.13765. Epub 2019 Aug 6.

PMID:
31355470
5.

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Vaisfeld A, Calicchia M, Pomponi MG, Lucci-Cordisco E, Reggiani-Bonetti L, Genuardi M.

Fam Cancer. 2019 Oct;18(4):421-427. doi: 10.1007/s10689-019-00139-3.

PMID:
31292797
6.

An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.

Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M.

Genet Med. 2019 Jun 17. doi: 10.1038/s41436-019-0577-z. [Epub ahead of print]

PMID:
31204389
7.

Recommendations for the implementation of BRCA testing in ovarian cancer patients and their relatives.

Gori S, Barberis M, Bella MA, Buttitta F, Capoluongo E, Carrera P, Colombo N, Cortesi L, Genuardi M, Gion M, Guarneri V, Incorvaia L, La Verde N, Lorusso D, Marchetti A, Marchetti P, Normanno N, Pasini B, Pensabene M, Pignata S, Radice P, Ricevuto E, Sapino A, Tagliaferri P, Tassone P, Trevisiol C, Truini M, Varesco L, Russo A; AIOM-SIGU-SIBIOC-SIAPEC-IAP Working Group.

Crit Rev Oncol Hematol. 2019 Aug;140:67-72. doi: 10.1016/j.critrevonc.2019.05.012. Epub 2019 May 25. Review.

8.

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.

Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R.

Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3.

PMID:
31053777
9.

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Leoni C, Onesimo R, Resta N, Patti ML, De Santis R, Bagnulo R, Russo L, Manfredi R, Genuardi M, Zampino G.

Clin Genet. 2019 Jul;96(1):102-103. doi: 10.1111/cge.13550. Epub 2019 Apr 22.

PMID:
31012097
10.

Distinct plasma gradients of microRNA-204 in the pulmonary circulation of patients suffering from WHO Groups I and II pulmonary hypertension.

Estephan LE, Genuardi MV, Kosanovich CM, Risbano MG, Zhang Y, Petro N, Watson A, Al Aaraj Y, Sembrat JC, Rojas M, Goncharov DA, Simon MA, Goncharova EA, Vaidya A, Smith A, Mazurek J, Han Y, Chan SY.

Pulm Circ. 2019 Apr-Jun;9(2):2045894019840646. doi: 10.1177/2045894019840646.

11.

Association of Short Sleep Duration and Atrial Fibrillation.

Genuardi MV, Ogilvie RP, Saand AR, DeSensi RS, Saul MI, Magnani JW, Patel SR.

Chest. 2019 Sep;156(3):544-552. doi: 10.1016/j.chest.2019.01.033. Epub 2019 Feb 27.

PMID:
30825445
12.

Workload measurement for molecular genetics laboratory: A survey study.

Tagliafico E, Bernardis I, Grasso M, D'Apice MR, Lapucci C, Botta A, Giachino DF, Marinelli M, Primignani P, Russo S, Sani I, Seia M, Fini S, Rimessi P, Tenedini E, Ravani A, Genuardi M, Ferlini A; Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU.

PLoS One. 2018 Nov 27;13(11):e0206855. doi: 10.1371/journal.pone.0206855. eCollection 2018.

13.

Is re-challenge still an option as salvage therapy in multiple myeloma? The case of REal-life BOrtezomib re-Use as secoND treatment for relapsed patients exposed frontline to bortezomib-based therapies (the REBOUND Study).

Musto P, Simeon V, Cascavilla N, Falcone A, Petrucci MT, Cesini L, Di Raimondo F, Conticello C, Ria R, Catalano L, Salvatore D, Mastrullo L, Gagliardi A, Villani O, Pietrantuono G, D'Arena G, Mansueto G, Bringhen S, Genuardi M, Di Renzo N, Reddiconto G, Fragasso A, Caravita T, Scapicchio D, Marziano G, Boccadoro M, Mangiacavalli S, Corso A.

Ann Hematol. 2019 Feb;98(2):361-367. doi: 10.1007/s00277-018-3524-1. Epub 2018 Oct 23.

PMID:
30353388
14.

Correction to: Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.

Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, Pomponi MG, Angelini S, Alfieri S, Genuardi M, Zamboni G, Ricci R.

Virchows Arch. 2019 Feb;474(2):265. doi: 10.1007/s00428-018-2472-4.

PMID:
30306267
15.

Primary constitutional MLH1 epimutations: a focal epigenetic event.

Dámaso E, Castillejo A, Arias MDM, Canet-Hermida J, Navarro M, Del Valle J, Campos O, Fernández A, Marín F, Turchetti D, García-Díaz JD, Lázaro C, Genuardi M, Rueda D, Alonso Á, Soto JL, Hitchins M, Pineda M, Capellá G.

Br J Cancer. 2018 Oct;119(8):978-987. doi: 10.1038/s41416-018-0019-8. Epub 2018 Oct 4.

16.

Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.

Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, Pomponi MG, Angelini S, Alfieri S, Genuardi M, Zamboni G, Ricci R.

Virchows Arch. 2019 Feb;474(2):259-264. doi: 10.1007/s00428-018-2462-6. Epub 2018 Oct 1. Erratum in: Virchows Arch. 2018 Oct 10;:.

PMID:
30276464
17.

Exploring the mechanisms of the racial disparity in drowsy driving.

Genuardi MV, Althouse AD, Sharbaugh MS, Ogilvie RP, Patel SR.

Sleep Health. 2018 Aug;4(4):331-338. doi: 10.1016/j.sleh.2018.04.003. Epub 2018 Apr 24.

18.

Atrial arrhythmias are associated with increased mortality in pulmonary arterial hypertension.

Smith B, Genuardi MV, Koczo A, Zou RH, Thoma FW, Handen A, Craig E, Hogan CM, Girard T, Althouse AD, Chan SY.

Pulm Circ. 2018 Jul-Sep;8(3):2045894018790316. doi: 10.1177/2045894018790316. Epub 2018 Jul 3.

19.

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

Weren RDA, van der Post RS, Vogelaar IP, van Krieken JH, Spruijt L, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Oliveira C, Kamping EJ, Schackert HK, Ranzani GN, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Cats A, Bjørnevoll I, Hoogerbrugge N, Ligtenberg MJL.

J Med Genet. 2018 Oct;55(10):669-674. doi: 10.1136/jmedgenet-2017-104962. Epub 2018 Jan 12.

20.

Autologous transplant for myeloma: when the old meets the new.

Gay F, Genuardi M, Boccadoro M.

Oncotarget. 2017 Oct 8;8(53):90618-90619. doi: 10.18632/oncotarget.21605. eCollection 2017 Oct 31. No abstract available.

21.

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

Borghesi A, Mencarelli MA, Memo L, Ferrero GB, Bartuli A, Genuardi M, Stronati M, Villani A, Renieri A, Corsello G; their respective Scientific Societies.

Ital J Pediatr. 2017 Nov 3;43(1):100. doi: 10.1186/s13052-017-0418-0. Review.

22.

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.

Seppälä T, Pylvänäinen K, Evans DG, Järvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Genuardi M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Frayling IM, Plazzer JP, Sampson JR, Capella G, Möslein G, Mecklin JP, Møller P; Mallorca Group.

Hered Cancer Clin Pract. 2017 Oct 10;15:18. doi: 10.1186/s13053-017-0078-5. eCollection 2017.

23.

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Vogelaar IP, van der Post RS, van Krieken JHJ, Spruijt L, van Zelst-Stams WA, Kets CM, Lubinski J, Jakubowska A, Teodorczyk U, Aalfs CM, van Hest LP, Pinheiro H, Oliveira C, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, de Ligt J, Vissers LELM, Hoischen A, Gilissen C, van de Vorst M, Goeman JJ, Schackert HK, Ranzani GN, Molinaro V, Gómez García EB, Hes FJ, Holinski-Feder E, Genuardi M, Ausems MGEM, Sijmons RH, Wagner A, van der Kolk LE, Bjørnevoll I, Høberg-Vetti H, van Kessel AG, Kuiper RP, Ligtenberg MJL, Hoogerbrugge N.

Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.

24.

Temporal Associations Between Smoking and Cardiovascular Disease, 1971 to 2006 (from the Framingham Heart Study).

Burke GM, Genuardi M, Shappell H, D'Agostino RB Sr, Magnani JW.

Am J Cardiol. 2017 Nov 15;120(10):1787-1791. doi: 10.1016/j.amjcard.2017.07.087. Epub 2017 Aug 8.

25.

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.

Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group.

Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.

26.

Immuno-oncologic Approaches: CAR-T Cells and Checkpoint Inhibitors.

Gay F, D'Agostino M, Giaccone L, Genuardi M, Festuccia M, Boccadoro M, Bruno B.

Clin Lymphoma Myeloma Leuk. 2017 Aug;17(8):471-478. doi: 10.1016/j.clml.2017.06.014. Epub 2017 Jun 17. Review.

PMID:
28689001
27.

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

D'ippolito S, Di Simone N, Orteschi D, Pomponi MG, Genuardi M, Sisti LG, Castellani R, Rossi ED, Scambia G, Zollino M.

PLoS One. 2017 Jun 12;12(6):e0178113. doi: 10.1371/journal.pone.0178113. eCollection 2017.

28.

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A, Bruselles A, Meccia E, Fornasarig M, Quaia M, Canzonieri V, Policicchio E, Urso ED, Agostini M, Genuardi M, Lucci-Cordisco E, Venesio T, Martayan A, Diodoro MG, Sanchez-Mete L, Stigliano V, Mazzei F, Grasso F, Giuliani A, Baiocchi M, Maestro R, Giannini G, Tartaglia M, Alexandrov LB, Bignami M.

EBioMedicine. 2017 Jun;20:39-49. doi: 10.1016/j.ebiom.2017.04.022. Epub 2017 Apr 13.

29.

Minimal residual disease after transplantation or lenalidomide-based consolidation in myeloma patients: a prospective analysis.

Oliva S, Gambella M, Gilestro M, Muccio VE, Gay F, Drandi D, Ferrero S, Passera R, Pautasso C, Bernardini A, Genuardi M, Patriarca F, Saraci E, Petrucci MT, Pescosta N, Liberati AM, Caravita T, Conticello C, Rocci A, Musto P, Boccadoro M, Palumbo A, Omedè P.

Oncotarget. 2017 Jan 24;8(4):5924-5935. doi: 10.18632/oncotarget.12641.

30.

Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

Tricarico R, Kasela M, Mareni C, Thompson BA, Drouet A, Staderini L, Gorelli G, Crucianelli F, Ingrosso V, Kantelinen J, Papi L, De Angioletti M, Berardi M, Gaildrat P, Soukarieh O, Turchetti D, Martins A, Spurdle AB, Nyström M, Genuardi M; InSiGHT Variant Interpretation Committee.

Hum Mutat. 2017 Jan;38(1):64-77. doi: 10.1002/humu.23117. Epub 2016 Oct 17.

31.

The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death.

Tiziano FD, Palmieri V, Genuardi M, Zeppilli P.

Front Cardiovasc Med. 2016 Aug 26;3:28. doi: 10.3389/fcvm.2016.00028. eCollection 2016. Review.

32.

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.

Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Möslein G, Sampson JR, Capella G; Mallorca Group (http://mallorca-group.org).

Gut. 2017 Sep;66(9):1657-1664. doi: 10.1136/gutjnl-2016-311403. Epub 2016 Jun 3.

33.

Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.

Pinto C, Bella MA, Capoluongo E, Carrera P, Clemente C, Colombo N, Cortesi L, De Rosa G, Fenizia F, Genuardi M, Gori S, Guarneri V, Marchetti A, Marchetti P, Normanno N, Pasini B, Pignata S, Radice P, Ricevuto E, Russo A, Tagliaferri P, Tassone P, Truini M, Varesco L.

Future Oncol. 2016 Sep;12(18):2071-5. doi: 10.2217/fon-2016-0189. Epub 2016 May 31. Review. No abstract available.

34.

A phase 2 study of three low-dose intensity subcutaneous bortezomib regimens in elderly frail patients with untreated multiple myeloma.

Larocca A, Bringhen S, Petrucci MT, Oliva S, Falcone AP, Caravita T, Villani O, Benevolo G, Liberati AM, Morabito F, Montefusco V, Passera R, De Rosa L, Omedé P, Vincelli ID, Spada S, Carella AM, Ponticelli E, Derudas D, Genuardi M, Guglielmelli T, Nozzoli C, Aghemo E, De Paoli L, Conticello C, Musolino C, Offidani M, Boccadoro M, Sonneveld P, Palumbo A.

Leukemia. 2016 Jun;30(6):1320-6. doi: 10.1038/leu.2016.36. Epub 2016 Feb 22.

35.

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.

Aceto GM, Fantini F, De Iure S, Di Nicola M, Palka G, Valanzano R, Di Gregorio P, Stigliano V, Genuardi M, Battista P, Cama A, Curia MC.

J Exp Clin Cancer Res. 2015 Oct 28;34:131. doi: 10.1186/s13046-015-0244-4.

36.

Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis.

Tricarico R, Cortellino S, Riccio A, Jagmohan-Changur S, Van der Klift H, Wijnen J, Turner D, Ventura A, Rovella V, Percesepe A, Lucci-Cordisco E, Radice P, Bertario L, Pedroni M, Ponz de Leon M, Mancuso P, Devarajan K, Cai KQ, Klein-Szanto AJ, Neri G, Møller P, Viel A, Genuardi M, Fodde R, Bellacosa A.

Oncotarget. 2015 Dec 15;6(40):42892-904. doi: 10.18632/oncotarget.5740.

37.

Observations: A Pilot Study of Multiple Simultaneous Critical Care Simulations.

Fraser TN, Genuardi M, McCullough SA, Peloquin G, Currier PF, Miloslavsky EM.

J Grad Med Educ. 2015 Jun;7(2):303. doi: 10.4300/JGME-D-15-00074.1. No abstract available.

38.

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone GL, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P.

Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30.

39.

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

Ponzi E, Asaro A, Orteschi D, Genuardi M, Zollino M, Gurrieri F.

Eur J Med Genet. 2015 Aug;58(8):400-5. doi: 10.1016/j.ejmg.2015.06.001. Epub 2015 Jun 24.

PMID:
26117585
40.

Towards a European consensus for reporting incidental findings during clinical NGS testing.

Hehir-Kwa JY, Claustres M, Hastings RJ, van Ravenswaaij-Arts C, Christenhusz G, Genuardi M, Melegh B, Cambon-Thomsen A, Patsalis P, Vermeesch J, Cornel MC, Searle B, Palotie A, Capoluongo E, Peterlin B, Estivill X, Robinson PN.

Eur J Hum Genet. 2015 Dec;23(12):1601-6. doi: 10.1038/ejhg.2015.111. Epub 2015 Jun 3.

41.

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde KJ, Kuiper J, Thompson BA, Plazzer JP, van Valkenhoef G, de Haan M, Jongbloed JD, Wijmenga C, de Koning TJ, Abbott KM, Sinke R, Spurdle AB, Macrae F, Genuardi M, Sijmons RH, Swertz MA; InSiGHT Group.

Hum Mutat. 2015 Jul;36(7):712-9. doi: 10.1002/humu.22798. Epub 2015 May 20.

42.

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, Mazoyer S, Chenevix-Trench G, Easton DF, Antoniou AC, Nathanson KL; CIMBA Consortium, Laitman Y, Kushnir A, Paluch-Shimon S, Berger R, Zidan J, Friedman E, Ehrencrona H, Stenmark-Askmalm M, Einbeigi Z, Loman N, Harbst K, Rantala J, Melin B, Huo D, Olopade OI, Seldon J, Ganz PA, Nussbaum RL, Chan SB, Odunsi K, Gayther SA, Domchek SM, Arun BK, Lu KH, Mitchell G, Karlan BY, Walsh C, Lester J, Godwin AK, Pathak H, Ross E, Daly MB, Whittemore AS, John EM, Miron A, Terry MB, Chung WK, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, Neuhausen SL, Ding YC, Ejlertsen B, Gerdes AM, Hansen Tv, Ramón y Cajal T, Osorio A, Benitez J, Godino J, Tejada MI, Duran M, Weitzel JN, Bobolis KA, Sand SR, Fontaine A, Savarese A, Pasini B, Peissel B, Bonanni B, Zaffaroni D, Vignolo-Lutati F, Scuvera G, Giannini G, Bernard L, Genuardi M, Radice P, Dolcetti R, Manoukian S, Pensotti V, Gismondi V, Yannoukakos D, Fostira F, Garber J, Torres D, Rashid MU, Hamann U, Peock S, Frost D, Platte R, Evans DG, Eeles R, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Izatt L, Adlard J, Donaldson A, Ellis S, Sharma P, Schmutzler RK, Wappenschmidt B, Becker A, Rhiem K, Hahnen E, Engel C, Meindl A, Engert S, Ditsch N, Arnold N, Plendl HJ, Mundhenke C, Niederacher D, Fleisch M, Sutter C, Bartram CR, Dikow N, Wang-Gohrke S, Gadzicki D, Steinemann D, Kast K, Beer M, Varon-Mateeva R, Gehrig A, Weber BH, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S, Houdayer C, Belotti M, Gauthier-Villars M, Damiola F, Boutry-Kryza N, Lasset C, Sobol H, Peyrat JP, Muller D, Fricker JP, Collonge-Rame MA, Mortemousque I, Nogues C, Rouleau E, Isaacs C, De Paepe A, Poppe B, Claes K, De Leeneer K, Piedmonte M, Rodriguez G, Wakely K, Boggess J, Blank SV, Basil J, Azodi M, Phillips KA, Caldes T, de la Hoya M, Romero A, Nevanlinna H, Aittomäki K, van der Hout AH, Hogervorst FB, Verhoef S, Collée JM, Seynaeve C, Oosterwijk JC, Gille JJ, Wijnen JT, Gómez Garcia EB, Kets CM, Ausems MG, Aalfs CM, Devilee P, Mensenkamp AR, Kwong A, Olah E, Papp J, Diez O, Lazaro C, Darder E, Blanco I, Salinas M, Jakubowska A, Lubinski J, Gronwald J, Jaworska-Bieniek K, Durda K, Sukiennicki G, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Złowocka-Perłowska E, Menkiszak J, Arason A, Barkardottir RB, Simard J, Laframboise R, Montagna M, Agata S, Alducci E, Peixoto A, Teixeira MR, Spurdle AB, Lee MH, Park SK, Kim SW, Friebel TM, Couch FJ, Lindor NM, Pankratz VS, Guidugli L, Wang X, Tischkowitz M, Foretova L, Vijai J, Offit K, Robson M, Rau-Murthy R, Kauff N, Fink-Retter A, Singer CF, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Berger A, Greene MH, Mai PL, Imyanitov EN, Toland AE, Senter L, Bojesen A, Pedersen IS, Skytte AB, Sunde L, Thomassen M, Moeller ST, Kruse TA, Jensen UB, Caligo MA, Aretini P, Teo SH, Selkirk CG, Hulick PJ, Andrulis I.

JAMA. 2015 Apr 7;313(13):1347-61. doi: 10.1001/jama.2014.5985. Erratum in: JAMA. 2015 Aug 11;314(6):628.

43.

Anti-miR21 oligonucleotide enhances chemosensitivity of T98G cell line to doxorubicin by inducing apoptosis.

Giunti L, da Ros M, Vinci S, Gelmini S, Iorio AL, Buccoliero AM, Cardellicchio S, Castiglione F, Genitori L, de Martino M, Giglio S, Genuardi M, Sardi I.

Am J Cancer Res. 2014 Dec 15;5(1):231-42. eCollection 2015.

44.

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.

Crucianelli F, Tricarico R, Turchetti D, Gorelli G, Gensini F, Sestini R, Giunti L, Pedroni M, Ponz de Leon M, Civitelli S, Genuardi M.

Epigenetics. 2014 Oct;9(10):1431-8. doi: 10.4161/15592294.2014.970080.

45.

Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.

Forte G, Grossi V, Celestini V, Lucisano G, Scardapane M, Varvara D, Patruno M, Bagnulo R, Loconte D, Giunti L, Petracca A, Giglio S, Genuardi M, Pellegrini F, Resta N, Simone C.

BMC Cancer. 2014 Sep 11;14:661. doi: 10.1186/1471-2407-14-661.

46.

Autologous transplantation and maintenance therapy in multiple myeloma.

Palumbo A, Cavallo F, Gay F, Di Raimondo F, Ben Yehuda D, Petrucci MT, Pezzatti S, Caravita T, Cerrato C, Ribakovsky E, Genuardi M, Cafro A, Marcatti M, Catalano L, Offidani M, Carella AM, Zamagni E, Patriarca F, Musto P, Evangelista A, Ciccone G, Omedé P, Crippa C, Corradini P, Nagler A, Boccadoro M, Cavo M.

N Engl J Med. 2014 Sep 4;371(10):895-905. doi: 10.1056/NEJMoa1402888.

47.

Pharmacophore modeling technique applied for the discovery of proteasome inhibitors.

Pautasso C, Troia R, Genuardi M, Palumbo A.

Expert Opin Drug Discov. 2014 Aug;9(8):931-43. doi: 10.1517/17460441.2014.923838. Epub 2014 May 30. Review.

PMID:
24877566
48.

Carfilzomib, cyclophosphamide, and dexamethasone in patients with newly diagnosed multiple myeloma: a multicenter, phase 2 study.

Bringhen S, Petrucci MT, Larocca A, Conticello C, Rossi D, Magarotto V, Musto P, Boccadifuoco L, Offidani M, Omedé P, Gentilini F, Ciccone G, Benevolo G, Genuardi M, Montefusco V, Oliva S, Caravita T, Tacchetti P, Boccadoro M, Sonneveld P, Palumbo A.

Blood. 2014 Jul 3;124(1):63-9. doi: 10.1182/blood-2014-03-563759. Epub 2014 May 22.

PMID:
24855212
49.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M.

Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.

50.

The growing complexity of the intestinal polyposis syndromes.

Lucci-Cordisco E, Risio M, Venesio T, Genuardi M.

Am J Med Genet A. 2013 Nov;161A(11):2777-87. doi: 10.1002/ajmg.a.36253. Epub 2013 Oct 3. Review.

PMID:
24124059

Supplemental Content

Loading ...
Support Center