PUTIGNANO, ANNA LAURA

PUTIGNANO, ANNA LAURA  

Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'  

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Titolo Data di pubblicazione Autore(i) File
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency 2017 Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L.
A PALB2 germline mutation associated with hereditary breast cancer in Italy. 2009 L. Papi;A. L. Putignano;C. Congregati;I. Piaceri;I. Zanna;F. Sera;D. Morrone;M. Genuardi;D. Palli
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphisms in primary colorectal cancer patients 2004 Morganti, M; Ciantelli, M; Giglioni, B; Putignano, Al; Nobili, S; Papi, L; Landini, I; Napoli, C; Valanzano, R; Cianchi, F; Boddi, V; Tonelli, F; Cortesini, C; Mazzei, T; Genuardi, M; Mini, E.
Correlation between thymidylate synthase (TS) mRNA expression and TS gene promoter polymorphysms in primary colorectal cancer patients. 2004 Morganti M, Ciantelli M, Giglioni B, Putignano AL, Nobili S, Papi L, Landini I, Napoli C, Valanzano R, Cianchi F, Boddi V, Tonelli F, Cortesini C, Mazzei T, Genuardi M, Mini E
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit 2019 Capone, GL; Putignano, AL; Patuelli, A; Paganini, I; Sestini, R; Gensini, F; Marozza, A; Porfirio, B; Papi, L
Donor-specific anti-HLA antibodies in Huntington’s disease recipients of human fetal striatal grafts 2015 B Porfirio; M Paganini; B Mazzanti; S Bagnoli; S Bucciantini; E Ghelli; B Nacmias; AL Putignano; G Rombolà; R Saccardi; L Lombardini; N Di Lorenzo; GB Vannelli; P Gallina
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma 2018 Paganini I; Capone GL; Vitte J; Sestini R; Putignano AL; Giovannini M; Papi L.
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection 2018 Capone, Gabriele Lorenzo; Putignano, Anna Laura; Saavedra, Sharon Trujillo; Paganini, Irene; Sestini, Roberta; Gensini, Francesca; De Rienzo, Irene; Papi, Laura; Porfirio, Berardino
Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report. 2009 L.Papi; D.Palli; L.Masi; A.L.Putignano; C.Congregati; I.Zanna; F. Marini; F.Giusti; E.Luzi; F.Tonelli; M.Genuardi; M.L.Brandi; A.Falchetti
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients 2019 Paganini, I; Capone, GL; Putignano, A; Sestini, R; Gensini, F; Porfirio, B; Marozza, A; Papi, L
Thymidylate synthase expression and genotype have no major impact on the clinical outcome of colorectal cancer patients treated with 5-fluorouracil 2011 M. Vignoli; S. Nobili; C. Napoli; A.L. Putignano; M. Morganti; L. Papi; R. Valanzano; F. Cianchi; F. Tonelli; T. Mazzei; E. Mini; M. Genuardi.