Pubblicazioni

Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in ChildrenâA Literature Review and Case Report

2024 - CHILDREN

Panvino, Fabiola; Paparella, Roberto; Gambuti, Luisiana; Cerrito, Andrea; Menghi, Michela; Micangeli, Ginevra; Petrella, Carla; Fiore, Marco; Tarani, Luigi; Ardizzone, Ignazio

Mosaic genomeâwide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

2023 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Torres, Barbara; Goldoni, Marina; Onori, Annamaria; Bernardini, Laura; De Luca, Alessandro; Torrente, Isabella; Pizzuti, Antonio

Identification of a robust DNA methylation signature for Fanconi anemia

2023 - AMERICAN JOURNAL OF HUMAN GENETICS

Pagliara, Daria; Ciolfi, Andrea; Pedace, Lucia; Haghshenas, Sadegheh; Ferilli, Marco; Levy, Michael A; Miele, Evelina; Nardini, Claudia; Cappelletti, Camilla; Relator, Raissa; Pitisci, Angela; De Vito, Rita; Pizzi, Simone; Kerkhof, Jennifer; Mcconkey, Haley; Nazio, Francesca; Kant, Sarina G; Di Donato, Maddalena; Agolini, Emanuele; Matraxia, Marta; Pasini, Barbara; Pelle, Alessandra; Galluccio, Tiziana; Novelli, Antonio; Barakat, Tahsin Stefan; Andreani, Marco; Rossi, Francesca; Mecucci, Cristina; Savoia, Anna; Sadikovic, Bekim; Locatelli, Franco; Tartaglia, Marco

A 3-level impaction technique for dorsal reshaping and reduction without dorsal soft tissue envelope dissection

2021 - AESTHETIC SURGERY JOURNAL

Finocchi, Valerio; Vellone, Valentino; Giorgio, Mattioli Rubens; Daniel, Rollin K

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial

2021 - AMERICAN JOURNAL OF HUMAN GENETICS

Capalbo, A.; Poli, M.; Rienzi, L.; Girardi, L.; Patassini, C.; Fabiani, M.; Cimadomo, D.; Benini, F.; Farcomeni, A.; Cuzzi, J.; Rubio, C.; Albani, E.; Sacchi, L.; Vaiarelli, A.; Figliuzzi, M.; Findikli, N.; Coban, O.; Boynukalin, F. K.; Vogel, I.; Hoffmann, E.; Livi, C.; Levi-Setti, P. E.; Ubaldi, F. M.; Simon, C.

Incidence, origin, and predictive model for the detection and Clinical Management of segmental aneuploidies in human embryos

2020 - AMERICAN JOURNAL OF HUMAN GENETICS

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

The role of number of copies, structure, behavior and copy number variations (CNV) of the Y chromosome in male infertility

2020 - GENES

Signore, Fabrizio; GulÃ¬a, Caterina; Votino, Raffaella; De Leo, Vincenzo; Zaami, Simona; Putignani, Lorenza; Gigli, Silvia; Santini, Edoardo; Bertacca, Luca; Porrello, Alessandro; Piergentili, Roberto

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

2018 - BMC MEDICAL GENETICS

Baban, A.; Magliozzi, M.; Loeys, B.; Adorisio, R.; Alesi, V.; Secinaro, A.; Corica, B.; Vricella, L.; Dietz, H. C.; Drago, F.; Novelli, A.; Amodeo, A.

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

2017 - CHILDS NERVOUS SYSTEM

Caltabiano, Rosario; Magro, Gaetano; Polizzi, Agata; PraticÃ², Andrea Domenico; Ortensi, Andrea; D'Orazi, Valerio; Panunzi, Andrea; Milone, Pietro; Maiolino, Luigi; Nicita, Francesco; Capone, Gabriele Lorenzo; Sestini, Roberta; Paganini, Irene; Muglia, Mariella; Cavallaro, Sebastiano; Lanzafame, Salvatore; Papi, Laura; Ruggieri, Martino

Ocular alterations in a rare case of segmental neurofibromatosis type 1 with a non-classified mutational variant of the NF-1 gene

2016 - OPHTHALMIC GENETICS

Abdolrahimzadeh, Solmaz; Piraino, Domenica Carmen; Plateroti, Rocco; Scuderi, Gianluca; Recupero, Santi Maria