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Paola Grammatico

Azienda Ospedaliera San Camillo-Forlanini
H指数:50
被引数:8,015

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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

The Breast
IF0
2025-10-220
OAAI
Niccolò 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
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

CDK13相关疾病：来自27例病例系列的新见解及临床管理建议

CLINICAL GENETICS
IF2.3
2025-02-190
OAAI
Gianluca Contrò; Maria Chiara Baroni; Stefano Giuseppe Caraffi; Manuela Napoli; Rosangela Artuso; Annarita Giliberti; Sara Bargiacchi; Giorgia Mancano; Giovanna Traficante; Mafalda Mucciolo; Francesca Clementina Radio; Viviana Cordeddu; Cecilia Mancini; Irene Bottillo; Federica Anna Pirro; Maria Teresa Bonati; Cord-Christian Becker; Diana Carli; Alessandro Mussa; Maria Isis Atallah Gonzalez; Inge Lore Ruiz-Arana; Camille Kumps; Isabelle Maystadt; Stephanie Moortgat; Alp Peker; Maria Piccione; Paola Grammatico; Nino Rostomashvili; Jonathan Lévy; Marcello Scala; Valeria Capra; Annalaura Torella; Clare van Eyk; Bertrand Isidor; Benjamin Cogne; Siddharth Srivastava; Aisling Quinlan; Alessandro Vaisfeld; Laura Licchetta; Daniele Frattini; Claudio Graziano; Giulia Severi; Isabelle Bacchi; Luca Soliani; Elliott H. Sherr; Emanuela Argilli; Himanshu Goel; Chiara De Luca; Silvia Leonardi; Francesco Brancati; Flavio Faletra; Catia Mio; Silvia Braibanti; Giancarlo Gargano; Carlo Fusco; Antonio Novelli; Marco Tartaglia; Livia Garavelli
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
IF4.7
2025-02-010
PRE
Bottillo, Irene; Ciccone, Maria Pia; Magliozzi, Monia; Pilichou, Kalliopi; Girotto, Giorgia; Girolami, Francesca; Cecconi, Massimiliano; D'Argenio, Valeria; Novelli, Valeria; Coiana, Alessandra; Formicola, Daniela; Micaglio, Emanuele; Tortora, Giada; Gualandi, Francesca; Petrucci, Simona; Castori, Marco; Resta, Nicoletta; Vestri, Anna Rita; Iascone, Maria; Grammatico, Paola
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta
CALCIFIED TISSUE INTERNATIONAL
IF3.2
2024-11-131
OAAI
Celli, Luca; Garrelfs, Mark R.; Sakkers, Ralph J. B.; Elting, Mariet W.; Celli, Mauro; Boekenkamp, Arend; Smits, Cas; Goderie, Thade; Smit, Jan Maerten; Schwarte, Lothar A.; Schober, Patrick R.; Lubbers, Wouter D.; Visser, Marieke C.; Kievit, Arthur J.; van Royen, Barend J.; Gilijamse, Marjolijn; Schreuder, Willem H.; Rustemeyer, Thomas; Pramana, Angela; Hendrickx, Jan-Jaap; Dahele, Max R.; Saeed, Peerooz; Moll, Annette C.; Curro-Tafili, Katie R.; Ghyczy, Ebba A. E.; Dickhoff, Chris; de Leeuw, Robert A.; Bonjer, Jaap H.; Nieuwenhuijzen, Jakko A.; Konings, Thelma C.; Engelsman, Anton F.; Eeckhout, Augustinus M.; van den Aardweg, Joost G.; Thoral, Patrick J.; Noske, David P.; Dubois, Leander; Teunissen, Berend P.; Semler, Oliver; Wekre, Lena Lande; Maasalu, Katre; Maertson, Aare; Sangiorgi, Luca; Versacci, Paolo; Riminucci, Mara; Grammatico, Paola; Zambrano, Anna; Martini, Lorena; Castori, Marco; Botman, Esmee; Westerheim, Ingunn; Zhytnik, Lidiia; Micha, Dimitra; Eekhoff, Elisabeth Marelise W.
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline

导致Myhre综合征的SMAD4突变在男性生殖系中处于阳性选择状态

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-09-013
OAAI
Wood, Katherine A.; Tong, R. Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R.; Bush, Stephen J.; Maxwell, Dale W.; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B.; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew O. M.; Lin, Angela E.; Cormier-Daire, Valerie; Twigg, Stephen R. F.; Tartaglia, Marco; Goriely, Anne
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
GENETICS IN MEDICINE
IF6.2
2022-02-012
OAAI
Micale, Lucia; Morlino, Silvia; Carbone, Annalucia; Carissimo, Annamaria; Nardella, Grazia; Fusco, Carmela; Palumbo, Orazio; Schirizzi, Annalisa; Russo, Federica; Mazzoccoli, Gianluigi; Breckpot, Jeroen; De Luca, Chiara; Ferraris, Alessandro; Giunta, Cecilia; Grammatico, Paola; Haanpaa, Maria K.; Mancano, Giorgia; Forzano, Giulia; Cacchiarelli, Davide; Van Esch, Hilde; Callewaert, Bert; Rohrbach, Marianne; Castori, Marco
Comparison of Two Blood-Based Genotyping Tests to Investigate the KRAS G12C Mutation in Patients with Non-Small-Cell Lung Cancer at Failure of First-Line Treatments

两种基于血液的基因分型检测在一线治疗失败的非小细胞肺癌患者中KRAS G12C突变的比较

DIAGNOSTICS
IF3.3
2021-11-254
OAAI
Nicolazzo, Chiara; Gelibter, Alain; Bottillo, Irene; Belardinilli, Francesca; Pisegna, Simona; De Renzi, Gianluigi; Marinelli, Daniele; Grammatico, Paola; Cortesi, Enrico; Giannini, Giuseppe; Gazzaniga, Paola
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

RFX家族转录因子的破坏会导致自闭症，注意力缺陷/多动障碍，智力障碍和行为失调

GENETICS IN MEDICINE
IF6.2
2021-06-0133
OAAI
Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E. H.; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; van Binsbergen, Ellen; Pfundt, Rolph; Gardeitchik, Thatjana; de Vries, Bert B. A.; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L., Jr.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Kury, Sebastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, Andre; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.

研究方向

暂未获取到该数据
M
Marco Castori
H 指数:55论文数:708被引数:1.6万
S
Silvia Majore
H 指数:22论文数:84被引数:1,831
I
Irene Bottillo
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F
Francesco Binni
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A
Antonio Novelli
H 指数:51论文数:565被引数:1.5万
C
Carmelilia De Bernardo
H 指数:19论文数:53被引数:1,079
F
Filippo Camerota
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H 指数:36论文数:134被引数:3,253
M
Mauro Picardo
H 指数:84论文数:529被引数:2.5万
M
Marco Tartaglia
H 指数:78论文数:684被引数:2.6万