يعرض 1 - 10 نتائج من 31 نتيجة بحث عن '"Maffè, Antonella"', وقت الاستعلام: 1.01s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience

    المؤلفون: Pepe, Francesco, Russo, Gianluca, Venuta, Alessandro, Scimone, Claudia, Nacchio, Mariantonia, Pisapia, Pasquale, Goteri, Gaia, Barbisan, Francesca, Chiappetta, Caterina, Pernazza, Angelina, Campagna, Domenico, Giordano, Marco, Perrone, Giuseppe, Sabarese, Giovanna, Altimari, Annalisa, de Biase, Dario, Tallini, Giovanni, Calistri, Daniele, Chiadini, Elisa, Capelli, Laura, Santinelli, Alfredo, Gulini, Anna Elisa, Pierpaoli, Elisa, Badiali, Manuela, Murru, Stefania, Murgia, Riccardo, Guerini Rocco, Elena, Venetis, Konstantinos, Fusco, Nicola, Morotti, Denise, Gianatti, Andrea, Furlan, Daniela, Rossi, Giulio, Melocchi, Laura, Russo, Maria, De Luca, Caterina, Palumbo, Lucia, Simonelli, Saverio, Maffè, Antonella, Francia di Celle, Paola, Venesio, Tiziana, Scatolini, Maria, Grosso, Enrico, Orecchia, Sara, Fassan, Matteo, Balistreri, Mariangela, Zulato, Elisabetta, Reghellin, Daniela, Lazzari, Elena, Santacatterina, Maria

    المساهمون: Regione Campania, Ministero della Salute

    المصدر: Oncology and Therapy ; ISSN 2366-1070 2366-1089

    مصطلحات موضوعية: Oncology

    الإتاحة: https://doi.org/10.1007/s40487-023-00252-5Test

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  2. 2
    دورية أكاديمية
    Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

    المؤلفون: Sculco, Marika, La Vecchia, Marta, Aspesi, Anna, Clavenna, Michela Giulia, Salvo, Michela, Borgonovi, Giulia, Pittaro, Alessandra, Witel, Gianluca, Napoli, Francesca, Listì, Angela, Grosso, Federica, Libener, Roberta, Maconi, Antonio, Rena, Ottavio, Boldorini, Renzo, Giachino, Daniela, Bironzo, Paolo, Maffè, Antonella, Alì, Greta, Elefanti, Lisa, Menin, Chiara, Righi, Luisella, Tampieri, Cristian, Scagliotti, Giorgio Vittorio, Dianzani, Caterina, Ferrante, Daniela, Migliore, Enrica, Magnani, Corrado, Mirabelli, Dario, Matullo, Giuseppe, Dianzani, Irma

    المساهمون: Sculco, Marika, La Vecchia, Marta, Aspesi, Anna, Clavenna, Michela Giulia, Salvo, Michela, Borgonovi, Giulia, Pittaro, Alessandra, Witel, Gianluca, Napoli, Francesca, Listì, Angela, Grosso, Federica, Libener, Roberta, Maconi, Antonio, Rena, Ottavio, Boldorini, Renzo, Giachino, Daniela, Bironzo, Paolo, Maffè, Antonella, Alì, Greta, Elefanti, Lisa, Menin, Chiara, Righi, Luisella, Tampieri, Cristian, Scagliotti, Giorgio Vittorio, Dianzani, Caterina, Ferrante, Daniela, Migliore, Enrica, Magnani, Corrado, Mirabelli, Dario, Matullo, Giuseppe, Dianzani, Irma

    مصطلحات موضوعية: BAP1-TPDS, cancer genome, diagnostic, germline variant, immunohistochemistry, melanoma, mesothelioma

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35885614; info:eu-repo/semantics/altIdentifier/wos/WOS:000833091400001; volume:12; issue:7; firstpage:1; lastpage:20; numberofpages:20; journal:DIAGNOSTICS; https://hdl.handle.net/2318/1878603Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137375230

    الإتاحة: https://doi.org/10.3390/diagnostics12071710Test
    https://hdl.handle.net/2318/1878603Test

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  3. 3
    دورية أكاديمية
    Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants

    المؤلفون: Dell’Elice, Anastasia, Cini, Giulia, Fornasarig, Mara, Armelao, Franco, Barana, Daniela, Bianchi, Francesca, Casalis Cavalchini, Guido Claudio, Maffè, Antonella, Mammi, Isabella, Pedroni, Monica, Percesepe, Antonio, Sorrentini, Italo, Tibiletti, Mariagrazia, Maestro, Roberta, Quaia, Michele, Viel, Alessandra

    المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 12 ; ISSN 2324-9269 2324-9269

    الإتاحة: https://doi.org/10.1002/mgg3.1831Test

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  4. 4
    دورية أكاديمية
    Update of penetrance estimates in Birt-Hogg-Dubé syndrome

    المؤلفون: Bruinsma, Fiona Jane, Dowty, James G, Win, Aung Ko, Goddard, Laura C, Agrawal, Prachi, Attina', Domenico, Bissada, Nabil, De Luise, Monica, Eisen, Daniel B, Furuya, Mitsuko, Gasparre, Giuseppe, Genuardi, Maurizio, Gerdes, Anne-Marie, Hansen, Thomas Van Overeem, Houweling, Arjan C, Johannesma, Paul Christiaan, Lencastre, André, Lim, Derek, Lindor, Noralane M, Luzzi, Valentina, Lynch, Maeve, Maffé, Antonella, Menko, Fred H, Michels, Guido, Pulido, Jose S, Jay, Ryu H, Sattler, Elke C, Steinlein, Ortrud K, Tomassetti, Sara, Tucker, Kathy, Turchetti, Daniela, van de Beek, Irma, van Riel, Lore, van Steensel, Maurice, Zenone, Thierry, Zompatori, Maurizo, Walsh, Jennifer, Bondavalli, Davide, Maher, Eamonn R, Winship, Ingrid M

    المساهمون: Bruinsma, Fiona Jane, Dowty, James G, Win, Aung Ko, Goddard, Laura C, Agrawal, Prachi, Attina', Domenico, Bissada, Nabil, De Luise, Monica, Eisen, Daniel B, Furuya, Mitsuko, Gasparre, Giuseppe, Genuardi, Maurizio, Gerdes, Anne-Marie, Hansen, Thomas Van Overeem, Houweling, Arjan C, Johannesma, Paul Christiaan, Lencastre, André, Lim, Derek, Lindor, Noralane M, Luzzi, Valentina, Lynch, Maeve, Maffé, Antonella, Menko, Fred H, Michels, Guido, Pulido, Jose S, Jay, Ryu H, Sattler, Elke C, Steinlein, Ortrud K, Tomassetti, Sara, Tucker, Kathy, Turchetti, Daniela, van de Beek, Irma, van Riel, Lore, van Steensel, Maurice, Zenone, Thierry, Zompatori, Maurizo, Walsh, Jennifer, Bondavalli, Davide, Maher, Eamonn R, Winship, Ingrid M

    مصطلحات موضوعية: Gene Expression, Genetic Predisposition to Disease, Genetic Research, Human Genetics

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36849229; volume:60; issue:4; firstpage:317; lastpage:326; numberofpages:10; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11585/923311Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150751788

    الإتاحة: https://doi.org/10.1136/jmg-2022-109104Test
    https://hdl.handle.net/11585/923311Test

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  5. 5
    دورية أكاديمية
    Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

    المؤلفون: DI GREGORIO, ELEONORA, RIBERI, EVELISE, BELLIGNI, ELGA FABIA, BIAMINO, ELISA, Spielmann, Malte, ALA, UGO, CALCIA, ALESSANDRO, BAGNASCO, Irene, Carli, Diana, GAI, GIORGIA, Giordano, Mara, Guala, Andrea, KELLER, ROBERTO, MANDRILE, Giorgia, Arduino, Carlo, Maffè, Antonella, NARETTO, VALERIA GIORGIA, SIRCHIA, Fabio, SORASIO, LORENA, Ungari, Silvana, ZONTA, Andrea, Zacchetti, Giulia, Talarico, Flavia, Pappi, Patrizia, CAVALIERI, Simona, GIORGIO, ELISA, MANCINI, CECILIA, FERRERO, MARTA, BRUSSINO, Alessandro, Savin, Elisa, GANDIONE, Marina, Pelle, Alessandra, GIACHINO, Daniela Francesca, DE MARCHI, Mario, restagno, gabriella, PROVERO, Paolo, Silengo, Margherita Cirillo, Grosso, Enrico, Buxbaum, Joseph D, PASINI, Barbara, De Rubeis, Silvia, BRUSCO, Alfredo, FERRERO, Giovanni Battista

    المساهمون: DI GREGORIO, Eleonora, Riberi, Evelise, Belligni, ELGA FABIA, Biamino, Elisa, Spielmann, Malte, Ala, Ugo, Calcia, Alessandro, Bagnasco, Irene, Carli, Diana, Gai, Giorgia, Giordano, Mara, Guala, Andrea, Keller, Roberto, Mandrile, Giorgia, Arduino, Carlo, Maffè, Antonella, Naretto, VALERIA GIORGIA, Sirchia, Fabio, Sorasio, Lorena, Ungari, Silvana, Zonta, Andrea, Zacchetti, Giulia, Talarico, Flavia, Pappi, Patrizia, Cavalieri, Simona, Giorgio, Elisa, Mancini, Cecilia, Ferrero, Marta, Brussino, Alessandro, Savin, Elisa, Gandione, Marina, Pelle, Alessandra, Giachino, Daniela Francesca, DE MARCHI, Mario, Restagno, Gabriella, Provero, Paolo, Silengo, Margherita Cirillo, Grosso, Enrico, Buxbaum, Joseph D, Pasini, Barbara, De Rubeis, Silvia, Brusco, Alfredo, Ferrero, Giovanni Battista

    مصطلحات موضوعية: CNV, array-CGH, autism spectrum disorder, developmental delay, genomic disorder, intellectual disability

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28295210; info:eu-repo/semantics/altIdentifier/wos/WOS:000411478400008; volume:92; issue:4; firstpage:415; lastpage:422; numberofpages:8; journal:CLINICAL GENETICS; http://hdl.handle.net/2318/1631611Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026304485

    الإتاحة: https://doi.org/10.1111/cge.13009Test
    http://hdl.handle.net/2318/1631611Test

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  6. 6
    دورية أكاديمية
    Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

    المؤلفون: Dell'Elice, Anastasia, Cini, Giulia, Fornasarig, Mara, Armelao, Franco, Barana, Daniela, Bianchi, Francesca, Casalis Cavalchini, Guido Claudio, Maffè, Antonella, Mammi, Isabella, Pedroni, Monica, Percesepe, Antonio, Sorrentini, Italo, Tibiletti, Mariagrazia, Maestro, Roberta, Quaia, Michele, Viel, Alessandra

    المصدر: Molecular Genetics & Genomic Medicine; Dec2021, Vol. 9 Issue 12, p1-13, 13p

    مصطلحات موضوعية: GENETIC disorder diagnosis, PROMOTERS (Genetics)

    النص الكامل

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  7. 7
    دورية أكاديمية
    Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes

    المؤلفون: Betti, Marta, Aspesi, Anna, Ferrante, Daniela, Sculco, Marika, Righi, Luisella, Mirabelli, Dario, Napoli, Francesca, Rondón-Lagos, Milena, Casalone, Elisabetta, Vignolo Lutati, Francesca, OGLIARA, PAOLA, Bironzo, Paolo, Gironi, C. Laura, Savoia, Paola, Maffè, Antonella, Ungari, Silvana, Grosso, Federica, Libener, Roberta, Boldorini, Renzo, Valiante, Michele, Pasini, Barbara, Matullo, Giuseppe, Scagliotti, Giorgio, Magnani, Corrado, Dianzani, Irma

    المساهمون: Betti, Marta*, Aspesi, Anna, Ferrante, Daniela, Sculco, Marika, Righi, Luisella, Mirabelli, Dario, Napoli, Francesca, Rondón-Lagos, Milena, Casalone, Elisabetta, Vignolo Lutati, Francesca, Ogliara, Paola, Bironzo, Paolo, Gironi, C. Laura, Savoia, Paola, Maffè, Antonella, Ungari, Silvana, Grosso, Federica, Libener, Roberta, Boldorini, Renzo, Valiante, Michele, Pasini, Barbara, Matullo, Giuseppe, Scagliotti, Giorgio, Magnani, Corrado, Dianzani, Irma

    مصطلحات موضوعية: BAP1, BAP1-TPDS, cumulative asbestos exposure, DNA repair gene, germline variant, mesothelioma, Adult, Asbesto, Cohort Studie, DNA Repair, Environmental Exposure, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Human, Italy, Male, Middle Aged, Tumor Suppressor Protein, Ubiquitin Thiolesterase, Genetic, Cancer Research

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30338612; info:eu-repo/semantics/altIdentifier/wos/WOS:000447757100006; volume:57; issue:11; firstpage:573; lastpage:583; numberofpages:11; journal:GENES, CHROMOSOMES & CANCER; http://hdl.handle.net/2318/1689567Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055073569; http://onlinelibrary.wiley.com/journal/10.1002Test/(ISSN)1098-2264

    الإتاحة: https://doi.org/10.1002/gcc.22670Test
    http://hdl.handle.net/2318/1689567Test

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  8. 8
    دورية أكاديمية
    Amplification of repeat-containing transcribed sequences (ARTS): a transcriptome fingerprinting strategy to detect functionally relevant microsatellite mutations in cancer

    المؤلفون: Olivero, Martina, Ruggiero, Tina, Coltella, Nadia, Maffe’, Antonella, Calogero, Raffaele, Medico, Enzo, Di Renzo, Maria Flavia

    مصطلحات موضوعية: NAR Methods Online

    وصف الملف: text/html

    العلاقة: http://nar.oxfordjournals.org/cgi/content/short/31/7/e33Test; http://dx.doi.org/10.1093/nar/gng033Test

    الإتاحة: https://doi.org/10.1093/nar/gng033Test
    http://nar.oxfordjournals.org/cgi/content/short/31/7/e33Test

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  9. 9
    دورية أكاديمية
    Pulmonary features of Birt-Hogg-Dubé syndrome: Cystic lesions and pulmonary histiocytoma.

    المؤلفون: Tomassetti, Sara, Carloni, Angelo, Chilosi, Marco, Maffè, Antonella, Ungari, Silvana, Gurioli, Carlo, Casoni, Gian Luca, Romagnoli, Micaela, Gurioli, Christian, Ravaglia, Claudia, Poletti, Venerino, SVERZELLATI, Nicola

    المساهمون: Tomassetti, Sara, Carloni, Angelo, Chilosi, Marco, Maffè, Antonella, Ungari, Silvana, Sverzellati, Nicola, Gurioli, Carlo, Casoni, Gian Luca, Romagnoli, Micaela, Gurioli, Christian, Ravaglia, Claudia, Poletti, Venerino

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21356586; info:eu-repo/semantics/altIdentifier/wos/WOS:000289814000016; volume:105; issue:5; firstpage:768; lastpage:774; numberofpages:7; journal:RESPIRATORY MEDICINE; http://hdl.handle.net/11381/2338407Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79953023515; http://dx.doi.org/10.1016/j.rmed.2011.01.002Test

    الإتاحة: https://doi.org/10.1016/j.rmed.2011.01.002Test
    http://hdl.handle.net/11381/2338407Test

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  10. 10
    دورية أكاديمية
    Hemoglobin A 2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.

    المؤلفون: Mahmud, Noraesah, Maffei, Massimo, Mogni, Massimo, Forni, Gian Luca, Pinto, Valeria Maria, Barberio, Giuseppina, Ungari, Silvana, Maffè, Antonella, Curcio, Cristina, Zanolli, Francesco, Paventa, Raffaella, Carta, Mariarosa, Caleffi, Alberta, Mercadanti, Mariella, Maoggi, Sauro, Ivaldi, Giovanni, Coviello, Domenico

    المصدر: Genes; Nov2021, Vol. 12 Issue 11, p1821, 1p

    مصطلحات موضوعية: SARS-CoV-2, GLOBIN genes, GENETIC variation, HIGH performance liquid chromatography, PREIMPLANTATION genetic diagnosis, HEMOGLOBINS

    مصطلحات جغرافية: NORTHERN Italy

    النص الكامل

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