Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.

Autor: Morlino S; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Foggia, Italy., Vaccaro L; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Leone MP; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Foggia, Italy., Nardella G; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Foggia, Italy., Bisceglia L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Foggia, Italy., Ortore RP; Division of Maxillofacial Surgery and Otolaryngology, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Foggia, Italy., Verzicco G; Division of Maxillofacial Surgery and Otolaryngology, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Foggia, Italy., Cassano L; Division of Maxillofacial Surgery and Otolaryngology, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Foggia, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Foggia, Italy. m.castori@operapadrepio.it., Cacchiarelli D; Armenise/Harvard Laboratory of Integrative Genomics, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale, Naples, Italy., Micale L; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, Viale Cappuccini snc, 71013, San Giovanni Rotondo, Foggia, Italy.

Publikováno v: Journal of human genetics [J Hum Genet] 2024 Jun; Vol. 69 (6), pp. 287-290. Date of Electronic Publication: 2024 Mar 07.

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.

Autor: Tesolin P; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy., Morgan A; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy., Notarangelo M; Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, 38123 Trento, Italy., Ortore RP; UOC Otolaryngology, Institute I.R.C.C.S. 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo, Italy., Concas MP; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy., Notarangelo A; UOC Medical Genetics, Institute I.R.C.C.S. 'Casa Sollievo della Sofferenza', 71013 San Giovanni Rotondo, Italy., Girotto G; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.; Institute for Maternal and Child Health-I.R.C.C.S. 'Burlo Garofolo', 34137 Trieste, Italy.

Publikováno v: Genes [Genes (Basel)] 2021 Jul 06; Vol. 12 (7). Date of Electronic Publication: 2021 Jul 06.

Giant cell granuloma of the temporal bone: a case report.

Autor: Ortore RP; Audiology Unit, University of Ferrara, Italy., Bovo R, Ciorba A, Ceruti S, Martini A

Publikováno v: B-ENT [B-ENT] 2008; Vol. 4 (1), pp. 45-8.