CAROSELLI, SILVIA

CAROSELLI, SILVIA  

DIPARTIMENTO DI MEDICINA SPERIMENTALE  

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A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy 2023 Micolonghi, Caterina; Fabiani, Marco; Pagannone, Erika; Savio, Camilla; Ricci, Marta; Caroselli, Silvia; Gambioli, Vittoria; Musumeci, Maria Beatrice; Germani, Aldo; TINI MELATO, Giacomo; Autore, Camillo; Pizzuti, Antonio; Visco, Vincenzo; Rubattu, Speranza Donatella; Petrucci, Simona; Piane, Maria
Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population 2021 Capalbo, A; Fabiani, M; Caroselli, S; Poli, M; Girardi, L; Patassini, C; Favero, F; Cimadomo, D; Vaiarelli, A; Simon, C; Rienzi, Lf; Ubaldi, Fm
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies 2022 Capalbo, A; Gabbiato, I; Caroselli, S; Picchetta, L; Cavalli, P; Lonardo, F; Bianca, S; Giardina, E; Zuccarello, D
Discovery of the first human arylsulfatase a reversible inhibitor impairing mouse oocyte fertilization 2020 Caroselli, Silvia; Zwergel, Clemens; Pirolli, Adele; Sabatino, Manuela; Xu, Zhanjie; Kirsch, Gilbert; Mai, Antonello; Colotti, Gianni; Altieri, Fabio; Canipari, Rita; Valente, Sergio; Ragno, Rino
Implementing preconception expanded carrier screening in a universal health care system. A model-based cost-effectiveness analysis 2023 Busnelli, Andrea; Ciani, Oriana; Caroselli, Silvia; Figliuzzi, Matteo; Poli, Maurizio; Levi-Setti, Paolo Emanuele; Tarricone, Rosanna; Capalbo, Antonio
Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses 2023 Caroselli, S; Figliuzzi, M; Picchetta, L; Cogo, F; Zambon, P; Pergher, I; Girardi, L; Patassini, C; Poli, M; Bakalova, D; Cimadomo, D; Findikli, N; Coban, O; Serdarogullari, M; Favero, F; Bortolato, S; Anastasi, A; Capodanno, F; Gallinelli, A; Brancati, F; Capalbo, A
Incidence, origin, and predictive model for the detection and Clinical Management of segmental aneuploidies in human embryos 2020 Girardi, Laura; Serdarogullari, Munevver; Patassini, Cristina; Poli, Maurizio; Fabiani, Marco; Caroselli, Silvia; Coban, Onder; Findikli, Necati; Boynukalin, Fazilet Kubra; Bahceci, Mustafa; Chopra, Rupali; Canipari, Rita; Cimadomo, Danilo; Rienzi, Laura; Ubaldi, Filippo; Hoffmann, Eva; Rubio, Carmen; Simon, Carlos; Capalbo, Antonio
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest 2022 Capalbo, A; Buonaiuto, S; Figliuzzi, M; Damaggio, G; Girardi, L; Caroselli, S; Poli, M; Patassini, C; Cetinkaya, M; Yuksel, B; Azad, A; Grøndahl, Ml; Hoffmann, Er; Simón, C; Colonna, V; Kahraman, S
Molecular tools for the genomic assessment of oocyte's reproductive competence 2022 Picchetta, L; Caroselli, S; Figliuzzi, M; Cogo, F; Zambon, P; Costa, M; Pergher, I; Patassini, C; Cortellessa, F; Zuccarello, D; Poli, M; Capalbo, A
Re-analysis of next-generation sequencing data in patients with hypertrophic cardiomyopathy: contribution of spliceogenic MYBPC3 variants in an italian cohort 2025 Caroselli, Silvia; Fabiani, Marco; Micolonghi, Caterina; Savio, Camilla; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; Germani, Aldo; Libi, Fabio; Visco, Vincenzo; Pizzuti, Antonio; Autore, Camillo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria
The role of genetic testing in suspected fulminant myocarditis: a case report 2023 Mistrulli, Raffaella; Micolonghi, Caterina; Follesa, Federico; Fabiani, Marco; Pagannone, Erika; D'Amati, Giulia; Giordano, Carla; Caroselli, Silvia; Savio, Camilla; Germani, Aldo; Pizzuti, Antonio; Visco, Vincenzo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria; Autore, Camillo
The use of copy number loads to designate mosaicism in blastocyst stage PGT-A cycles: fewer is better 2023 Girardi, L; Figliuzzi, M; Poli, M; Serdarogullari, M; Patassini, C; Caroselli, S; Pergher, I; Cogo, F; Coban, O; Boynukalin, F K; Bahceci, M; Navarro, R; Rubio, C; Findikli, N; Simón, C; Capalbo, A
Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review 2024 Micolonghi, Caterina; Perrone, Federica; Fabiani, Marco; Caroselli, Silvia; Savio, Camilla; Pizzuti, Antonio; Germani, Aldo; Visco, Vincenzo; Petrucci, Simona; Rubattu, Speranza; Piane, Maria