Functional Characterization of the Human BRCA1 ∆11 Splicing Isoforms in Yeast von Galli, Alvaro, Bellè, Francesca, Fargnoli, Arcangelo, Caligo, Maria Adelaide, Cervelli, Tiziana

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Aberrant expression of BARD1 in breast and ovarian cancers with poor prognosis von Wu, Jian‐Yu, Vlastos, Anne‐Therese, Pelte, Marie‐Françoise, Caligo, Maria‐Adelaide, Bianco, Andrea, Krause, Karl‐Heinz, Laurent, Geoffrey J., Irminger‐Finger, Irmgard

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Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants von Bellè, Francesca, Mercatanti, Alberto, Lodovichi, Samuele, Congregati, Caterina, Guglielmi, Chiara, Tancredi, Mariella, Caligo, Maria Adelaide, Cervelli, Tiziana, Galli, Alvaro

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The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times von Aretini, Paolo, Presciuttini, Silvano, Pastore, Aldo, Galli, Alvaro, Panepinto, Sara, Tancredi, Mariella, Ghilli, Matteo, Guglielmi, Chiara, Sidoti, Diletta, Congregati, Caterina, Caligo, Maria Adelaide

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The challenge of the differential diagnosis between brown tumors and metastases in parathyroid carcinoma: a case report von Dinoi, Elisa, Prete, Alessandro, Sardella, Chiara, Pierotti, Laura, Della Valentina, Simone, Dal Lago, Anna, Borsari, Simona, Pardi, Elena, Caligo, Maria Adelaide, Michelucci, Angela, Torregrossa, Liborio, Rossi, Piercarlo, Cetani, Filomena

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Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome von Pierotti, Laura, Pardi, Elena, Dinoi, Elisa, Piaggi, Paolo, Borsari, Simona, Della Valentina, Simone, Sardella, Chiara, Michelucci, Angela, Caligo, Maria Adelaide, Bogazzi, Fausto, Marcocci, Claudio, Cetani, Filomena

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Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions von Guglielmi, Chiara, Scarpitta, Rosa, Gambino, Gaetana, Conti, Eleonora, Belle, Francesca, Tancredi, Mariella, Cervelli, Tiziana, Falaschi, Elisabetta, Cosini, Cinzia, Aretini, Paolo, Congregati, Caterina, Marino, Marco, Patruno, Margherita, Pilato, Brunella, Spina, Francesca, Balestrino, Luisa, Tenedini, Elena, Carnevali, Ileana, Cortesi, Laura, Tagliafico, Enrico, Tibiletti, Maria Grazia, Tommasi, Stefania, Ghilli, Matteo, Vivanet, Caterina, Galli, Alvaro, Caligo, Maria Adelaide

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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report von Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo

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Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review von Bertolucci, Giulia, Tyutyusheva, Nina, Sepich, Margherita, Baldinotti, Fulvia, Caligo, Maria Adelaide, Sessa, Maria Rita, Peroni, Diego Giampiero, Bertelloni, Silvano

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Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome von Aretini, Paolo, Mazzanti, Chiara Maria, La Ferla, Marco, Franceschi, Sara, Lessi, Francesca, De Gregorio, Veronica, Nesti, Claudia, Valetto, Angelo, Bertini, Veronica, Toschi, Benedetta, Battini, Roberta, Caligo, Maria Adelaide

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Functional Interaction Between BRCA1 and DNA Repair in Yeast May Uncover a Role of RAD50, RAD51, MRE11A , and MSH6 Somatic Variants in Cancer Development von Maresca, Luisa, Lodovichi, Samuele, Lorenzoni, Alessandra, Cervelli, Tiziana, Monaco, Rossella, Spugnesi, Laura, Tancredi, Mariella, Falaschi, Elisabetta, Zavaglia, Katia, Landucci, Elisabetta, Roncella, Manuela, Congregati, Caterina, Gadducci, Angiolo, Naccarato, Antonio Giuseppe, Caligo, Maria Adelaide, Galli, Alvaro

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Effect of the overexpression of BRCA2 unclassified missense variants on spontaneous homologous recombination in human cells von Balia, Cristina, Galli, Alvaro, Caligo, Maria Adelaide

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Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype von Bertelloni, Silvano, Tyutyusheva, Nina, Valiani, Margherita, D'Alberton, Franco, Baldinotti, Fulvia, Caligo, Maria Adelaide, Baroncelli, Giampiero I., Peroni, Diego G.

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A Novel Breast Cancer–Associated BRIP1 (FANCJ/BACH1) Germ-line Mutation Impairs Protein Stability and Function von De Nicolo, Arcangela, Tancredi, Mariella, Lombardi, Grazia, Flemma, Cristina Chantal, Barbuti, Serena, Di Cristofano, Claudio, Sobhian, Bijan, Bevilacqua, Generoso, Drapkin, Ronny, Caligo, Maria Adelaide

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High level of messenger RNA for BRMS1 in primary breast carcinomas is associated with poor prognosis von Lombardi, Grazia, Di Cristofano, Claudio, Capodanno, Alessandra, Iorio, Maria Carla, Aretini, Paolo, Isola, Patrizia, Tancredi, Mariella, Collecchi, Paola, Naccarato, Antonio Giuseppe, Porta, Romana Prosperi, Bevilacqua, Generoso, Caligo, Maria Adelaide

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Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants von Di Cecco, Leontina, Melissari, Erika, Mariotti, Veronica, Iofrida, Caterina, Galli, Alvaro, Guidugli, Lucia, Lombardi, Grazia, Caligo, Maria Adelaide, Iacopetti, Paola, Pellegrini, Silvia

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The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers von Laitman, Yael, Kuchenbaecker, Karoline B., Rantala, Johanna, Hogervorst, Frans, Peock, Susan, Godwin, Andrew K., Arason, Adalgeir, Kirchhoff, Tomas, Offit, Kenneth, Isaacs, Claudine, Schmutzler, Rita K., Wappenschmidt, Barbara, Nevanlinna, Heli, Chen, Xiaoqing, Chenevix-Trench, Georgia, Healey, Sue, Couch, Fergus, Peterlongo, Paolo, Radice, Paolo, Nathanson, Katherine L., Caligo, Maria Adelaide, Neuhausen, Susan L., Ganz, Patricia, Sinilnikova, Olga M., McGuffog, Lesley, Easton, Douglas F., Antoniou, Antonis C., Wolf, Ido, Friedman, Eitan

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Long-term efficacy and safety of rifampin in the treatment of a patient carrying a CYP24A1 loss-of-function variant von Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Semeraro, Antonella, Borsari, Simona, Sardella, Chiara, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

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Lung Function Longitudinal Study by Phenotype and Genotype in Primary Ciliary Dyskinesia von Pifferi, Massimo, Bush, Andrew, Mariani, Francesca, Piras, Martina, Michelucci, Angela, Cangiotti, Angela, Di Cicco, Maria, Caligo, Maria Adelaide, Miccoli, Mario, Boner, Attilio L., Peroni, Diego

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Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types? von Brancatella, Alessandro, Cappellani, Daniele, Kaufmann, Martin, Borsari, Simona, Piaggi, Paolo, Baldinotti, Fulvia, Caligo, Maria Adelaide, Jones, Glenville, Marcocci, Claudio, Cetani, Filomena

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