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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. Peterlongo P, et al. Among authors: radice p. Hum Mol Genet. 2015 Sep 15;24(18):5345-55. doi: 10.1093/hmg/ddv251. Epub 2015 Jun 30. Hum Mol Genet. 2015. PMID: 26130695 Free PMC article.
SacI identifies an additional RFLP at the D11S12 locus.
Radice P, Borrello MG, De Benedetti V, Mondini P, Pierotti MA, Della Porta G. Radice P, et al. Nucleic Acids Res. 1991 Apr 11;19(7):1717. doi: 10.1093/nar/19.7.1717-a. Nucleic Acids Res. 1991. PMID: 1674134 Free PMC article.
Human TRK proto-oncogene maps to chromosome 1q32-q41.
Miozzo M, Pierotti MA, Sozzi G, Radice P, Bongarzone I, Spurr NK, Della Porta G. Miozzo M, et al. Among authors: radice p. Oncogene. 1990 Sep;5(9):1411-4. Oncogene. 1990. PMID: 2216464
Onco-suppressor genes in human cancer.
Della Porta G, Radice P, Pierotti MA. Della Porta G, et al. Among authors: radice p. Tumori. 1989 Aug 31;75(4):329-36. doi: 10.1177/030089168907500406. Tumori. 1989. PMID: 2573189 Review.
Loss of heterozygosity in human germinal tumors.
Radice P, Pierotti MA, Lacerenza S, Mondini P, Radice MT, Pilotti S, Della Porta G. Radice P, et al. Among authors: radice mt. Cytogenet Cell Genet. 1989;52(1-2):72-6. doi: 10.1159/000132843. Cytogenet Cell Genet. 1989. PMID: 2612217
BglII polymorphism of the epidermal growth factor receptor (EGF-R) gene.
Biunno I, Pozzi MR, Radice P, Mondini P, Pierotti MA, Haley J, Waterfield MD, Della Porta G. Biunno I, et al. Among authors: radice p. Nucleic Acids Res. 1988 Aug 11;16(15):7753. doi: 10.1093/nar/16.15.7753. Nucleic Acids Res. 1988. PMID: 2901067 Free PMC article.
417 results