Pubblicazioni

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease

2023 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Putotto, Carolina; Unolt, Marta; Lambiase, Caterina; Marchetti, Flaminia; Anaclerio, Silvia; Favoriti, Alessandra; Tancredi, Giancarlo; Mastromoro, Gioia; Pugnaloni, Flaminia; Liberati, Natascia; De Luca, Enrica; Tarani, Luigi; De Canditiis, Daniela; Caputo, Viviana; Bernardini, Laura; Digilio, Maria Cristina; Marino, Bruno; Versacci, Paolo

Congenital heart defects in the recurrent 2q13 deletion syndrome

2022 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Digilio, M. C.; Dentici, M. L.; Loddo, S.; Laino, L.; Calcagni, G.; Genovese, S.; Capolino, R.; Bottillo, I.; Calvieri, G.; Dallapiccola, B.; Marino, B.; Novelli, A.; Versacci, P.

Reassessment of the NF1 Variants of Unknown Significance Found During the 20-Year Activity of a Genetics Diagnostic Laboratory

2022 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Martorana, D.; Barili, V.; Uliana, V.; Ambrosini, E.; Riva, M.; De Sensi, E.; Luppi, E.; Messina, C.; Caleffi, E.; Pisani, F.; Percesepe, A.

Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings

2021 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Mastromoro, Gioia; Guadagnolo, Daniele; Giancotti, Antonella; Grazia Di Gregorio, Maria; Marchionni, Enrica; Vena, Flaminia; Romana Lepri, Francesca; Bargiacchi, Lavinia; Ventriglia, Flavia; Di Gioia, Cira Rosaria Tiziana; Novelli, Antonio; Pizzuti, Antonio

Further delineation of PIGB-related early infantile epileptic encephalopathy

2021 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Schiavoni, S.; Spagnoli, C.; Rizzi, S.; Salerno, G. G.; Frattini, D.; Bergonzini, P.; Pisani, F.; Fusco, C.

Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings

2020 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Mastromoro, G.; Capalbo, A.; Guido, C. A.; Torres, B.; Fabbretti, M.; Traversa, A.; Giancotti, A.; Ventriglia, F.; Bernardini, L.; Spalice, A.; Pizzuti, A.

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion

2020 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Pascolini, G.; Valiante, M.; Bottillo, I.; Laino, L.; Fleischer, N.; Ferraris, A.; Grammatico, P.

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

2020 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Ciaccio, C.; Duga, V.; Pantaleoni, C.; Esposito, S.; Moroni, I.; Pinelli, M.; Castello, R.; Nigro, V.; Chiapparini, L.; D'Arrigo, S.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, M.; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

2018 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Unolt, Marta; Barry, Jessica; Digilio, Maria Cristina; Marino, Bruno; Bassett, Anne; Oechslin, Erwin; Low, David W.; Belasco, Jean B.; Kallish, Staci; Sullivan, Kathleen; Zackai, Elaine H.; McDonald-McGinn, Donna M.

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders

2018 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Mastrangelo, Mario; Sartori, Stefano; Simonati, Alessandro; Brinciotti, Mario; Moro, Francesca; Nosadini, Margherita; Pezzini, Francesco; Doccini, Stefano; Santorelli, Filippo Maria; Leuzzi, Vincenzo

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion. Potential role of PI3K/Akt pathway dysregulation

2017 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Guaraldi, F.; Di Nardo, G.; Tarani, L.; Bertelli, L.; Susca, F. C.; Bagnulo, R.; Resta, N.

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome

2015 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Digilio, M. Cristina; Versacci, Paolo; Bernardini, Laura; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

2015 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Mauri, L; Franzoni, A; Scarcello, M; Sala, S; Garavelli, L; Modugno, A; Grammatico, Paola; Patrosso, Mc; Piozzi, E; Del Longo, A; Gesu, Gp; Manfredini, E; Primignani, P; Damante, G; Penco, S.