Orteschi, Daniela

Orteschi, Daniela  

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1-gen-2018 A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders Marangi, Giuseppe; Di Giacomo, Marilena Carmela; Lattante, Serena; Orteschi, Daniela; Patrizi, Sara; Doronzio, Paolo N.; Riviello, Francesco Nicola; Vaisfeld, Alessandro; Frangella, Silvia; Zollino, Marcella
1-gen-2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 Bedeschi, Maria Francesca; Marangi, Giuseppe; Calvello, Maria Rosaria; Ricciardi, Stefania; Leone, Francesca Pia Chiara; Baccarin, Marco; Guerneri, Silvana; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Frangella, Silvia; Keena, Beth; Harr, Margaret H.; Zackai, Elaine; Zollino, Marcella
1-gen-2017 Syndromic craniosynostosis can define new candidate genes for suture development or result from the non-specifc effects of pleiotropic genes: Rasopathies and chromatinopathies as examples Zollino, Marcella; Lattante, Serena; Orteschi, Daniela; Frangella, Silvia; Doronzio, Paolo N.; Contaldo, Ilaria; Mercuri, Eugenio; Marangi, Giuseppe
1-gen-2017 The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use D'Ippolito, Silvia; Di Simone, Nicoletta; Orteschi, Daniela; Pomponi, Maria Grazia; Genuardi, Maurizio; Sisti, Leuconoe Grazia; Castellani, Roberta; Rossi, Esther; Scambia, Giovanni; Zollino, Marcella
1-gen-2017 The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use. D'Ippolito, S; Di Simone, N; Orteschi, D; Pomponi, Mg; Genuardi, M; Sisti, Lg; Castellani, R; Rossi, Ed; Scambia, G; Zollino, M.
1-gen-2016 Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes Urreizti, R; Roca Ayats, N; Trepat, J; Garcia Garcia, F; Aleman, A; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Opitz, Jm; Dopazo, J; Cormand, B; Vilageliu, L; Balcells, S; Grinberg, D.
1-gen-2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E.
1-gen-2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, I; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, E; Slavotinek, Am; Zollino, Marcella
1-gen-2015 Unique genomic profile associated with pediatric uveal melanoma Blasi, Maria Antonietta; Orteschi, Daniela; Pagliara, Monica Maria; Coco, Giulia; Asaro, Alessia; Mule', Antonino; Petrone, Gianluigi; Zollino, Marcella
1-gen-2015 Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype Gurrieri, Fiorella; Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella
1-gen-2015 Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella; Guerrieri, Fiorella
1-gen-2015 Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype. Ponzi, Emanuela; Asaro, Alessia; Orteschi, Daniela; Genuardi, Maurizio; Zollino, Marcella; Guerrieri, Fiorella
1-gen-2014 Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
1-gen-2014 Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
1-gen-2013 Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study Mangiola, Annunziato; Saulnier, Nathalie; De Bonis, Pasquale; Orteschi, Daniela; Sica, Gigliola; Lama, Gina; Pettorini, Bl; Sabatino, Giovanni; Zollino, Marcella; Lauriola, Libero; Colabianchi, Anna; Proietti, G; Kovacs, G; Maira, Giulio; Anile, Carmelo
1-gen-2013 Gene expression profile of glioblastoma peritumoral tissue: an ex vivo study Mangiola, Annunziato; Saulnier, Nathalie; De Bonis, Pasquale; Orteschi, Daniela; Sica, Gigliola; Lama, Gina; Pettorini, Benedetta Ludovica; Sabatino, Giovanni; Zollino, Marcella; Lauriola, Libero; Colabianchi, Anna; Proietti, Giovanni; Kovacs, G; Maira, Giulio; Anile, Carmelo
1-gen-2013 Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella
1-gen-2013 Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Gurrieri, Fiorella; Zollino, Marcella; Oliva, Antonio; Pascali, Vincenzo Lorenzo; Orteschi, Daniela; Pietrobono, Roberta; Camporeale, Antonia; Bellocci, Fulvio; Neri, Giovanni; Coll Vidal, Monica; Partemi, Sara; Brugada, R.
1-gen-2013 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Boccuto, Luigi; Lauri, Maria; Sarasua, Sm; Skinner, Cd; Buccella, D; Dwivedi, A; Zollino, Marcella; Orteschi, Daniela; Collins, Js; Visconti, P; Dupont, B; Tiziano, Francesco Danilo; Schroer, Rj; Neri, Giovanni; Stevenson, Re; Gurrieri, Fiorella; Schwartz, Ce
1-gen-2013 TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype Marangi, Giuseppe; Leuzzi, V; Manti, F; Lattante, Serena; Orteschi, Daniela; Pecile, V; Neri, Giovanni; Zollino, Marcella