PUTIGNANO, ANNA LAURA
PUTIGNANO, ANNA LAURA
Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'
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.
| 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. |