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Maurizio Genuardi

catholic university of the sacred heart

53H指数
347论文数
1.2W被引数
收录论文 126
发表时间
Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant一个携带新型LEF1变异的无牙症家庭的临床和遗传特征
err2026-10-12
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errOAAI
errLudovica Fortuna; Roberto Bertozzi; Valentina Trevisan; Chiara Leoni; Angelo Minucci; Maurizio Genuardi; Gaetano Isola; Cristina Grippaudo; Elisabetta Tabolacci
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A Novel Variant of the CHD8 Gene in a Patient with Autism Spectrum Disorder自闭症谱系障碍患者中CHD8基因的一个新型变异体
errGenes
IF2.8
err2026-05-23
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errOAAI
errElena Falcone; Alessia Bauleo; Laura De Stefano; Rossella Brando; Sabrina Maietta; Elisabetta Tabolacci; Alberto Montesanto; Vincenza Pace; Rosalbina Apa; Domenica Puntorieri; Luca Cento; Giada Cuconato; Maria Grazia Muoio; Maurizio Genuardi
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NLRP12 as a Regulator of Inflammation: Insights into the Correlation with Autoinflammatory DisordersNLRP12作为炎症调节因子:关于其与自身炎症性疾病相关性的见解
errGenes
IF2.8
err2026-04-06
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errOAAI
errBeatrice Rosa; Elisabetta Tabolacci; Roberta Pietrobono; Eugenio Sangiorgi; Fiorella Gurrieri; Pietro Chiurazzi; Ludovico Luca Sicignano; Elena Verrecchia; Maurizio Genuardi; Donato Rigante; Raffaele Manna
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Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study优先考虑欧洲策略,以可持续方式获取癌症领域的高质量遗传咨询:一项德尔菲研究
err2026-02-13
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errOAAI
errJ. Matt McCrary; Els Van Valckenborgh; Denis Horgan; Evgenia Aleksandrova; Ralf Bargou; Regina Lohajova Behulova; Ivica Belina; Ann Liza Egesberg Bøhme; Joan Brunet; Florin Burada; Adela Chirita-Emandi; Andrada Ciuca; Chrystelle Colas; Anastasia Constantinidou; Razvan-Ovidiu Curca; Viorica Cursaru; Miriam Dalmas; Zanda Daneberga; Evandro de Azambuja; Antoine De Pauw; Robin De Putter; Turem Delikurt-Tuncalp; Deirdre Donnelly; Hans Ehrencrona; Lenka Foretova; Fabrizia Galli; Maurizio Genuardi; Rachel Giles; Claire Grima; Ramūnas Janavičius; Helena Kääriäinen; Barbara Klink; Mateja Krajc; Joanna Kufel-Grabowska; Baiba Lace; Liis Leitsalu; Christophe Le Tourneau; Marianne Lodahl; Francesca Mari; Erika Matos; Luca Mazzarella; Tamara Hussong Milagre; Martin Mistrik; Barbara Moss; Amy Nolan; Rosie O’Shea; Milena Paneque; Attila Patócs; Rebecka Pestoff; Hélène A. Poirel; Martine Risch; Manuel Rodrigues; Katharina M. Roetzer; Andrea Ros; Evelin Schröck; Gunda Schwaninger; Lucie Slámová; Kostas Stamatopoulos; Sonja Strang-Karlsson; Krzysztof Szczałuba; Virginie Szymczak; Philippe Theis; Jacqueline Turner; Olga Valcina; Christopher Vella; Wendy A. G. van Zelst-Stams; Karin A. W. Wadt; Johannes Zschocke; Joelle Ronez; Tim Ripperger; Marc Van Den Bulcke; Anke Katharina Bergmann
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A New Hypothesis on the Etiology of Down Syndrome: The Role of Anti-Zona Pellucida Antibodies as an Age-Independent Factor
err2026-01-19
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errGiuseppe Noia; Tina Pasciuto; Francesco Ria; Alfredo Pontecorvi; Monica Sacco; Emanuela Teveroni; Maurizio Genuardi; Francesca Mauro; Paolo Spina; Emilia Spina; Giada Castagna; Daniela Visconti; Antonio Lanzone; Marco De Santis
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Cascade counselling and testing. Recommendations of the European Society of Human Genetics级联咨询与检测。欧洲人类遗传学会建议
err2025-12-14
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errGuido de Wert; Carla G. van El; Angus Clarke; Christophe Cordier; Florence Fellmann; Maurizio Genuardi; Sabine Hentze; Hülya Kayserili; Milan Macek; Rhona MacLeod; Béla Melegh; Álvaro Mendes; Emmanuelle Rial-Sebbag; Vigdís Stefánsdóttir; Lisbeth Tranebjærg; Fiona Ulph; Francesca Forzano
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Lifestyle and environmental factors in women carrying BRCA pathogenic variants with and without cancer携带BRCA致病性变异的癌症患者与非癌症患者的女性生活方式及环境因素
err2025-12-01
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errOAAI
errFabi, Alessandra; Franco, Antonio; Cortesi, Laura; Lucci Cordisco, Emanuela; Rossi, Alessandro; Terribile, Daniela Andreina; Fiorio, Elena; Paris, Ida; Terrana, Giovanni; Mocini, Edoardo; Salutari, Vanda; Pavese, Francesco; L'Erario, Francesca Federica; Pasquetti, Domizia; Palazzo, Antonella; Di Guglielmo, Enrico; Sanchez, Alejandro Martin; D'Archi, Sabatino; Giontella, Elena; Di Leone, Alba; Cardinali, Ludovica; Saltarelli, Rosa; Scardina, Lorenzo; Ferretti, Elisabetta; Carbognin, Luisa; Milella, Michele; Baldari, Carlo; Bei, Roberto; Carcagni, Antonella; Garganese, Giorgia; Franceschini, Gianluca; Genuardi, Maurizio; Giannarelli, Diana; Migliaccio, Silvia
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Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer神经纤维瘤病1型相关乳腺癌的亚型分布、临床特征及分子谱
err2025-10-22
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errOAAI
errNiccolò Di Giosaffatte; Paola Daniele; Francesco Petrizzelli; Chiara Iacovino; Chiara Canciani; Maria Luisa Garau; Claudia Santoro; Valentina Trevisan; Arianna Panfili; Stefania Cavone; Valentina Guida; Maria Cecilia D’Asdia; Laura Bernardini; Silvia Majore; Alessandro Ferraris; Michele Valiante; Francesca Gensini; Francesca Clementina Radio; Giada Tortora; Matteo Cassina; Giuseppina Miele; Manuela Priolo; Fabio Sirchia; Ludovica Piccinno; Elisabetta Flex; Giuseppe Zampino; Maurizio Genuardi; Vincenzo Nigro; Leonardo Salviati; Laura Papi; Paola Grammatico; Chiara Leoni; Giulio Piluso; Sandra Giustini; Tommaso Mazza; Meena Upadhyaya; Marco Tartaglia; Eva Trevisson; Alessandro De Luca
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Practical tricks and recommendations on BRCA1/2 testing in prostate cancer: From therapy to cancer prevention关于前列腺癌中BRCA1/2检测的实用技巧和建议:从治疗到癌症预防
err2025-09-14
err0
PREAI
errMaria Grazia Tibiletti; Ileana Carnevali; Alessia Cimadamore; Cristina Oliani; Alberto Lapini; M. Genuardi; Sergio Bracarda; Pasquale Rescigno
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Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype诊断表型不一致的BWS双胞胎面临的挑战与陷阱
err2025-07-18
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errOAAI
errIacopo Bellani; Valentina Trevisan; Germana Viscogliosi; Maria Grazia Pomponi; Pietro Chiurazzi; Alessandro Mussa; Giuseppe Zampino; Maurizio Genuardi; Chiara Leoni
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The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS)PTEN错构瘤综合征(PHTS)中第二原发癌的风险
err2025-05-24
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errOAAI
errLinda A.J. Hendricks; Katja C.J. Verbeek; Janneke H.M. Schuurs-Hoeijmakers; Mirjam M. de Jong; Thera P. Links; Hilde Brems; Mio Aerden; Joan Brunet; Roser Lleuger-Pujol; Robert Hüneburg; Stefan Aretz; Chrystelle Colas; Marie-Charlotte Villy; Emma R. Woodward; D. Gareth Evans; Daniëlle G.M. Bosch; Stephany H. Donze; Lenka Foretová; Ana Blatnik; Edward M. Leter; Marc Tischkowitz; Arne Jahn; Robin de Putter; Juliette Dupont; Siri Briskemyr; Verena Steinke-Lange; Margherita Baldassarri; Violetta C. Anastasiadou; Arvīds Irmejs; Carla Oliveira; Rachel S. van der Post; Arjen R. Mensenkamp; Bianca Tesi; Ninni Mu; Patrick R. Benusiglio; Anna Gerasimenko; Giovanni Innella; Daniela Turchetti; Claude Houdayer; Maud Branchaud; Hildegunn Høberg Vetti; Marianne Tveit Haavind; Judith Balmaña; Maite Torres; Maurizio Genuardi; Arianna Panfili; Kjersti Jørgensen; Lovise Mæhle; Nicoline Hoogerbrugge; Janet R. Vos
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Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes
err2025-02-20
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errOAAI
errHinic, Snezana; Mensenkamp, Arjen R.; Schuurs-Hoeijmakers, Janneke H. M.; Brugnoletti, Fulvia; Vreede, Lilian; van Veen, Elke M.; Mijzen, Barend; van der Post, Rachel S.; Genuardi, Maurizio; Ligtenberg, Marjolijn J. L.; Hoogerbrugge, Nicoline; de Voer, Richarda M.
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Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course
err2024-11-21
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errStellacci, Emilia; Martinelli, Simone; Carbone, Pietro; Demuru, Elena; Genuardi, Maurizio; Ghiorzo, Paola; Novelli, Giuseppe; Di Pucchio, Alessandra; Regini, Federica Maria; Guerrera, Debora; Vittozzi, Andrea; Barbina, Donatella; Venanzi, Serenella; van den Bulcke, Marc; Boccia, Stefania; Mazzaccara, Alfonso; De Nicolo, Arcangela; De Angelis, Roberta
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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
err2024-11-01
err2
errOAAI
errYin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas v. O.; Pineda, Marta; Ritter, Deborah; de Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M.; Capella, Gabriel; Latchford, Andrew; Tavtigian, Sean, V; Maj, Carlo; Plon, Sharon E.; Greenblatt, Marc S.; Macrae, Finlay A.; Spier, Isabel; Aretz, Stefan
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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple cafe-au-lait maculesLZTR1中功能缺失变体的杂合性与孤立的多个cafe-au-lait斑疹相关
err2024-11-01
err0
PREAI
errMastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Curro, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Digilio, Maria Cristina; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro
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Multigenic panels in breast cancer: Clinical utility and management of patients with pathogenic variants other than BRCA1/2
err2024-09-01
err0
PREAI
errFabi, Alessandra; Cortesi, Laura; Duranti, Simona; Cordisco, Emanuela Lucci; Di Leone, Alba; Terribile, Daniela; Paris, Ida; de Belvis, Antonio Giulio; Orlandi, Armando; Marazzi, Fabio; Muratore, Margherita; Garganese, Giorgia; Fuso, Paola; Paoletti, Filippo; Dell'Aquila, Rossella; Minucci, Angelo; Scambia, Giovanni; Franceschini, Gianluca; Masetti, Riccardo; Genuardi, Maurizio
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ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome
err2024-07-31
err11
errOAAI
errGeilswijk, Marianne; Genuardi, Maurizio; Woodward, Emma R.; Nightingale, Katie; Huber, Jazzmin; Madsen, Mia Gebauer; van der Heij, Dieke; Lisseman, Ian; Marle-Ballange, Jenny; Mccarthy, Cormac; Menko, Fred H.; Moorselaar, R. Jeroen A. van; Radzikowska, Elzbieta; Richard, Stephane; Rajan, Neil; Sommerlund, Mette; Wetscherek, Maria T. A.; Di Donato, Nataliya; Maher, Eamonn R.; Brunet, Joan
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