A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

Autor: Moresco, Giada¹ (AUTHOR), Costanza, Jole¹ (AUTHOR), Santaniello, Carlo¹ (AUTHOR), Rondinone, Ornella¹ (AUTHOR), Grilli, Federico² (AUTHOR), Prada, Elisabetta² (AUTHOR), Orcesi, Simona^3,4 (AUTHOR), Coro, Ilaria² (AUTHOR), Pichiecchio, Anna^4,5 (AUTHOR), Marchisio, Paola^2,6 (AUTHOR), Miozzo, Monica^1,7 (AUTHOR), Fontana, Laura^1,7 (AUTHOR) laura.fontana@unimi.it, Milani, Donatella² (AUTHOR)

Publikováno v: Italian Journal of Pediatrics. 3/31/2021, Vol. 47 Issue 1, p1-6. 6p.

Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.

Autor: Dato, Clemente, Micaglio, Emanuele, Moresco, Giada, Rondinone, Ornella, Vitali, Paolo, Pappone, Carlo, Fontana, Laura, Miozzo, Monica, Bet, Luciano

Publikováno v: Frontiers in Genetics; 2023, p1-6, 6p

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.

Autor: Moresco, Giada, Rondinone, Ornella, Mauri, Alessia, Costanza, Jole, Santaniello, Carlo, Colapietro, Patrizia, Micaglio, Emanuele, Marfia, Giovanni, Pesenti, Chiara, Grilli, Federico, Rinaldi, Berardo, Prada, Elisabetta, Scuvera, Giulietta, Villa, Roberta, Bedeschi, Maria Francesca, Miozzo, Monica Rosa, Milani, Donatella, Fontana, Laura

Publikováno v: Genes & Genomics; May2023, Vol. 45 Issue 5, p637-655, 19p

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A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Autor: Moresco G; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Rondinone O; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Mauri A; Research Laboratories Coordination Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical and Clinical Sciences, Pediatric Clinical Research Center 'Romeo ed Enrica Invernizzi', University of Milan, Milan, Italy., Gorgoglione R; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy., Graziani DMG; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy.; Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Dziuback M; Orthopedics and Traumatology Unit, ASST Santi Paolo e Carlo, Milan, Italy., Miozzo MR; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy., Sirchia SM; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Pietrogrande L; Orthopedics and Traumatology Unit, ASST Santi Paolo e Carlo, Milan, Italy.; Orthopedics and Traumatology, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy., Peron A; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy. angela.peron@unifi.it.; Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy. angela.peron@unifi.it., Fontana L; Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Medical Genetics, ASST Santi Paolo e Carlo, Milan, Italy.

Publikováno v: Genes & genomics [Genes Genomics] 2024 Oct 28. Date of Electronic Publication: 2024 Oct 28.