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Published in Journal of clinical medicine (01.08.2024)
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Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
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Cava, Francesco, Micolonghi, Caterina, Musumeci, Maria Beatrice, Petrucci, Simona, Savio, Camilla, Fabiani, Marco, Tini, Giacomo, Germani, Aldo, Libi, Fabio, Rossi, Carla, Visco, Vincenzo, Pizzuti, Antonio, Volpe, Massimo, Autore, Camillo, Rubattu, Speranza, Piane, Maria
Published in Frontiers in cardiovascular medicine (05.04.2023)
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Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers
Germani, Aldo, Petrucci, Simona, De Marchis, Laura, Libi, Fabio, Savio, Camilla, Amanti, Claudio, Bonifacino, Adriana, Campanella, Barbara, Capalbo, Carlo, Lombardi, Augusto, Maggi, Stefano, Mattei, Mauro, Osti, Mattia Falchetto, Pellegrini, Patrizia, Speranza, Annarita, Stanzani, Gianluca, Vitale, Valeria, Pizzuti, Antonio, Torrisi, Maria Rosaria, Piane, Maria
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Published in Journal of clinical medicine (17.09.2020)
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Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline
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Published in Oncotarget (14.09.2018)
Published in Oncotarget (14.09.2018)
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Heterozygous Pathogenic Nonsense Variant in the IATM/I Gene in a Family with Unusually High Gastric Cancer Susceptibility
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Published in Biomedicines (01.07.2023)
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A New ISMAD4/I Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome
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NK cell activity controls human herpesvirus 8 latent infection and is restored upon highly active antiretroviral therapy in AIDS patients with regressing Kaposi's sarcoma
Sirianni, Maria Caterina, Vincenzi, Laura, Topino, Simone, Giovannetti, Antonello, Mazzetta, Francesca, Libi, Fabio, Scaramuzzi, Donato, Andreoni, Massimo, Pinter, Elena, Baccarini, Sara, Rezza, Giovanni, Monini, Paolo, Ensoli, Barbara
Published in European journal of immunology (01.10.2002)
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Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A)
Capurso, Gabriele, Sbrozzi-Vanni, Andrea, Piane, Maria, Begini, Paola, Panzuto, Francesco, Libi, Fabio, Margagnoni, Giovanna, Capotondi, Carlo, Marignani, Massimo, Chessa, Luciana, Delle Fave, Gianfranco
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Sirianni, Maria Caterina, Libi, Fabio, Campagna, Massimo, Rossi, Davide, Capello, Daniela, Sciaranghella, Gaia, Carbone, Antonino, Simonelli, Cecilia, Monini, Paolo, Gaidano, Gianluca, Ensoli, Barbara
Published in British journal of haematology (01.07.2005)
Published in British journal of haematology (01.07.2005)
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Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
Guadagnolo, Daniele, Mastromoro, Gioia, Marchionni, Enrica, Germani, Aldo, Libi, Fabio, Sadeghi, Soha, Savio, Camilla, Petrucci, Simona, De Marchis, Laura, Piane, Maria, Pizzuti, Antonio
Published in Biomedicines (22.07.2023)
Published in Biomedicines (22.07.2023)
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A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome
Micolonghi, Caterina, Piane, Maria, Germani, Aldo, Sadeghi, Soha, Libi, Fabio, Savio, Camilla, Fabiani, Marco, Mancini, Rita, Ranieri, Danilo, Pizzuti, Antonio, Corleto, Vito Domenico, Parisi, Pasquale, Visco, Vincenzo, Di Nardo, Giovanni, Petrucci, Simona
Published in Diagnostics (Basel, Switzerland) (04.11.2022)
Published in Diagnostics (Basel, Switzerland) (04.11.2022)
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