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Items: 1 to 20 of 21

1.

Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

Azzollini J, Scuvera G, Bruno E, Pasanisi P, Zaffaroni D, Calvello M, Pasini B, Ripamonti CB, Colombo M, Pensotti V, Radice P, Peissel B, Manoukian S.

Eur J Intern Med. 2016 Apr 6. pii: S0953-6205(16)30030-9. doi: 10.1016/j.ejim.2016.03.010. [Epub ahead of print]

PMID:
27062684
2.

Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

Caleca L, Putignano AL, Colombo M, Congregati C, Sarkar M, Magliery TJ, Ripamonti CB, Foglia C, Peissel B, Zaffaroni D, Manoukian S, Tondini C, Barile M, Pensotti V, Bernard L, Papi L, Radice P.

PLoS One. 2014 Feb 6;9(2):e86924. doi: 10.1371/journal.pone.0086924. eCollection 2014.

3.

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

Colombo M, De Vecchi G, Caleca L, Foglia C, Ripamonti CB, Ficarazzi F, Barile M, Varesco L, Peissel B, Manoukian S, Radice P.

PLoS One. 2013;8(2):e57173. doi: 10.1371/journal.pone.0057173. Epub 2013 Feb 22.

4.

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.

Ripamonti CB, Colombo M, Mondini P, Siranoush M, Peissel B, Bernard L, Radice P, Carcangiu ML.

BMC Cancer. 2013 Feb 1;13:46. doi: 10.1186/1471-2407-13-46.

5.

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.

Maxwell CA, Benítez J, Gómez-Baldó L, Osorio A, Bonifaci N, Fernández-Ramires R, Costes SV, Guinó E, Chen H, Evans GJ, Mohan P, Català I, Petit A, Aguilar H, Villanueva A, Aytes A, Serra-Musach J, Rennert G, Lejbkowicz F, Peterlongo P, Manoukian S, Peissel B, Ripamonti CB, Bonanni B, Viel A, Allavena A, Bernard L, Radice P, Friedman E, Kaufman B, Laitman Y, Dubrovsky M, Milgrom R, Jakubowska A, Cybulski C, Gorski B, Jaworska K, Durda K, Sukiennicki G, Lubiński J, Shugart YY, Domchek SM, Letrero R, Weber BL, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, Roozendaal CE; HEBON; EMBRACE, Easton DF, Peock S, Cook M, Oliver C, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Eccles D, Douglas F, Brewer C, Nevanlinna H, Heikkinen T, Couch FJ, Lindor NM, Wang X, Godwin AK, Caligo MA, Lombardi G, Loman N, Karlsson P, Ehrencrona H, Wachenfeldt Av; SWE-BRCA, Barkardottir RB, Hamann U, Rashid MU, Lasa A, Caldés T, Andrés R, Schmitt M, Assmann V, Stevens K, Offit K, Curado J, Tilgner H, Guigó R, Aiza G, Brunet J, Castellsagué J, Martrat G, Urruticoechea A, Blanco I, Tihomirova L, Goldgar DE, Buys S, John EM, Miron A, Southey M, Daly MB; BCFR, Schmutzler RK, Wappenschmidt B, Meindl A, Arnold N, Deissler H, Varon-Mateeva R, Sutter C, Niederacher D, Imyamitov E, Sinilnikova OM, Stoppa-Lyonne D, Mazoyer S, Verny-Pierre C, Castera L, de Pauw A, Bignon YJ, Uhrhammer N, Peyrat JP, Vennin P, Fert Ferrer S, Collonge-Rame MA, Mortemousque I; GEMO Study Collaborators, Spurdle AB, Beesley J, Chen X, Healey S; kConFab, Barcellos-Hoff MH, Vidal M, Gruber SB, Lázaro C, Capellá G, McGuffog L, Nathanson KL, Antoniou AC, Chenevix-Trench G, Fleisch MC, Moreno V, Pujana MA.

PLoS Biol. 2011 Nov;9(11):e1001199. doi: 10.1371/journal.pbio.1001199. Epub 2011 Nov 15.

6.

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers.

Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM, Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Mai PL, Greene MH, Piedmonte M, Rubinstein WS; HEBON, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Asperen CJ, Meijers-Heijboer HE, Van Roozendaal CE, Caldes T, Perez-Segura P, Jakubowska A, Lubinski J, Huzarski T, Blecharz P, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Barkardottir RB, Montagna M, D'Andrea E; kConFab, Devilee P, Olopade OI, Neuhausen SL, Peissel B, Bonanni B, Peterlongo P, Singer CF, Rennert G, Lejbkowicz F, Andrulis IL, Glendon G, Ozcelik H; Ontario Cancer Genetics Network, Toland AE, Caligo MA; SWE-BRCA, Beattie MS, Chan S; UKFOCR, Domchek SM, Nathanson KL, Rebbeck TR, Phelan C, Narod S, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Hansen TV, Osorio A, Benitez J, Durán M, Weitzel JN, Garber J, Hamann U; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Eeles R, Izatt L, Paterson J, Brewer C, Hodgson S, Morrison PJ, Porteous M, Walker L, Rogers MT, Side LE, Godwin AK, Schmutzler RK, Wappenschmidt B, Laitman Y, Meindl A, Deissler H, Varon-Mateeva R, Preisler-Adams S, Kast K, Venat-Bouvet L, Stoppa-Lyonnet D, Chenevix-Trench G, Easton DF, Klein RJ, Daly MJ, Friedman E, Dean M, Clark AG, Altshuler DM, Antoniou AC, Couch FJ, Offit K, Gold B.

Hum Genet. 2011 Nov;130(5):685-99. doi: 10.1007/s00439-011-1003-z. Epub 2011 May 20.

7.

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers.

Catucci I, Verderio P, Pizzamiglio S, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Ripamonti CB, Pasini B, Barile M, Viel A, Giannini G, Papi L, Varesco L, Martayan A, Riboni M, Volorio S, Radice P, Peterlongo P.

Breast Cancer Res Treat. 2011 Feb;125(3):855-60. doi: 10.1007/s10549-010-1068-8. Epub 2010 Jul 22.

PMID:
20652397
8.

HMGA1 protein expression in familial breast carcinoma patients.

Chiappetta G, Ottaiano A, Vuttariello E, Monaco M, Galdiero F, Gallipoli A, Pilotti S, Jodice G, Siranoush M, Colombo M, Ripamonti CB, Pallante PL, Radice P, Fusco A.

Eur J Cancer. 2010 Jan;46(2):332-9. doi: 10.1016/j.ejca.2009.10.015. Epub 2009 Nov 5.

PMID:
19896837
9.

An unusual BRCA2 allele carrying two splice site mutations.

Colombo M, Ripamonti CB, Pensotti V, Foglia C, Peissel B, Pierotti MA, Manoukian S, Radice P.

Ann Oncol. 2009 Jun;20(6):1143-4. doi: 10.1093/annonc/mdp241. Epub 2009 May 7. No abstract available.

10.

Total serum tryptase: a predictive marker for KIT mutation in acute myeloid leukemia.

Cairoli R, Ripamonti CB, Beghini A, Granata S, Grillo G, Brioschi M, Nadali G, Viola A, Cattaneo C, Inropido L, Ravelli E, Bertani G, Pezzetti L, Nichelatti M, Marocchi A, Rossi G, Pizzolo G, Ferrara F, Nosari AM, Morra E.

Leuk Res. 2009 Sep;33(9):1282-4. doi: 10.1016/j.leukres.2009.03.043. Epub 2009 Apr 29.

PMID:
19406474
11.

Molecular analysis of PDGFRA and PDGFRB genes by rapid single-strand conformation polymorphism (SSCP) in patients with core-binding factor leukaemias with KIT or FLT3 mutation.

Trojani A, Ripamonti CB, Penco S, Beghini A, Nadali G, Di Bona E, Viola A, Castagnola C, Colapietro P, Grillo G, Pezzetti L, Ravelli E, Patrosso MC, Marocchi A, Cuneo A, Ferrara F, Lazzarino M, Pizzolo G, Cairoli R, Morra E.

Anticancer Res. 2008 Sep-Oct;28(5A):2745-51.

12.

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B.

Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17.

13.

Cyclin D1 expression analysis in familial breast cancers may discriminate BRCAX from BRCA2-linked cases.

Colombo M, Giarola M, Mariani L, Ripamonti CB, De Benedetti V, Sardella M, Losa M, Manoukian S, Peissel B, Pierotti MA, Pilotti S, Radice P.

Mod Pathol. 2008 Oct;21(10):1262-70. doi: 10.1038/modpathol.2008.43. Epub 2008 Mar 7.

14.

Prognostic impact of c-KIT mutations in core binding factor leukemias: an Italian retrospective study.

Cairoli R, Beghini A, Grillo G, Nadali G, Elice F, Ripamonti CB, Colapietro P, Nichelatti M, Pezzetti L, Lunghi M, Cuneo A, Viola A, Ferrara F, Lazzarino M, Rodeghiero F, Pizzolo G, Larizza L, Morra E.

Blood. 2006 May 1;107(9):3463-8. Epub 2005 Dec 29.

15.

KIT activating mutations: incidence in adult and pediatric acute myeloid leukemia, and identification of an internal tandem duplication.

Beghini A, Ripamonti CB, Cairoli R, Cazzaniga G, Colapietro P, Elice F, Nadali G, Grillo G, Haas OA, Biondi A, Morra E, Larizza L.

Haematologica. 2004 Aug;89(8):920-5.

16.

C-Kit point mutations in core binding factor leukemias: correlation with white blood cell count and the white blood cell index.

Cairoli R, Grillo G, Beghini A, Tedeschi A, Ripamonti CB, Larizza L, Morra E.

Leukemia. 2003 Feb;17(2):471-2. No abstract available.

PMID:
12592353
17.

Molecular genetics of male infertility: stem cell factor/c-kit system.

Grimaldi P, Rossi P, Dolci S, Ripamonti CB, Geremia R.

Am J Reprod Immunol. 2002 Jul;48(1):27-33.

PMID:
12322893
18.
19.

RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia.

Beghini A, Ripamonti CB, Peterlongo P, Roversi G, Cairoli R, Morra E, Larizza L.

Hum Mol Genet. 2000 Sep 22;9(15):2297-304.

20.

Trisomy 4 leading to duplication of a mutated KIT allele in acute myeloid leukemia with mast cell involvement.

Beghini A, Ripamonti CB, Castorina P, Pezzetti L, Doneda L, Cairoli R, Morra E, Larizza L.

Cancer Genet Cytogenet. 2000 May;119(1):26-31.

PMID:
10812167
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