MELIS, Daniela

MELIS, Daniela  

Dipartimento di Medicina, Chirurgia e Odontoiatria “Scuola Medica Salernitana”/DIPMED  

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Risultati 1 - 20 di 90 (tempo di esecuzione: 0.024 secondi).
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A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. 1-gen-2016 Russo, S; Calzari, L; Mussa, A; Mainini, E; Cassina, M; Di Candia, S; Clementi, M; Guzzetti, S; Tabano, S; Miozzo, M; Sirchia, S; Finelli, P; Prontera, P; Maitz, S; Sorge, G; Calcagno, A; Maghnie, M; Divizia, Mt; Melis, D; Manfredini, E; Ferrero, Gb; Pecile, V; Larizza, L.
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment 1-gen-2018 Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D.
A pilot clinical trial with losartan in Myhre syndrome 1-gen-2021 Cappuccio, G.; Caiazza, M.; Roca, A.; Melis, D.; Iuliano, A.; Matyas, G.; Rubino, M.; Limongelli, G.; Brunetti-Pierri, N.
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome 1-gen-2012 Caputo, V; Cianetti, L; Niceta, M; Carta, C; Ciolfi, A; Bocchinfuso, G; Carrani, E; Dentici, Ml; Biamino, E; Belligni, E; Garavelli, L; Boccone, L; Melis, D; Andria, G; Gelb, Bd; Stella, L; Silengo, M; Dallapiccola, B; Tartaglia, M
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome 1-gen-2017 Casertano, A.; Fontana, P.; Hennekam, R. C.; Tartaglia, M.; Genesio, R.; Dieber, T. B.; Ortega, L.; Nitsch, L.; Melis, D.
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 1-gen-2015 Santoro, C.; Maietta, A.; Giugliano, T.; Melis, D.; Perrotta, S.; Nigro, V.; Piluso, G.
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases 1-gen-2015 Verloes, A.; Di Donato, N.; Masliah-Planchon, J.; Jongmans, M.; Abdul-Raman, O. A.; Albrecht, B.; Allanson, J.; Brunner, H.; Bertola, D.; Chassaing, N.; David, A.; Devriendt, K.; Eftekhari, P.; Drouin-Garraud, V.; Faravelli, F.; Faivre, L.; Giuliano, F.; Guion Almeida, L.; Juncos, J.; Kempers, M.; Eker, H. K.; Lacombe, D.; Lin, A.; Mancini, G.; Melis, D.; Lourenco, C. M.; Siu, V. M.; Morin, G.; Nezarati, M.; Nowaczyk, M. J. M.; Ramer, J. C.; Osimani, S.; Philip, N.; Pierpont, M. E.; Procaccio, V.; Roseli, Z. -S.; Rossi, M.; Rusu, C.; Sznajer, Y.; Templin, L.; Uliana, V.; Klaus, M.; Van Bon, B.; Van Ravenswaaij, C.; Wainer, B.; Fry, A. E.; Rump, A.; Hoischen, A.; Drunat, S.; Riviere, J. -B.; Dobyns, W. B.; Pilz, D. T.
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity 1-gen-2022 Ferrara, U. P.; Tortora, C.; Rosano, C.; Assunto, A.; Rossi, A.; Pagano, S.; Falco, M.; Simeoli, C.; Ferrigno, R.; D'Amico, A.; Di Salvio, D.; Cangemi, G.; Pivonello, R.; Strisciuglio, P.; Melis, D.
Brain damage in glycogen storage disease type I. 1-gen-2004 Melis, D.; Parenti, G.; Casa, R. D.; Romano, A.; DI SALLE, Francesco; Elefante, R.; Mansi, G.; Santoro, L.; Perretti, A.; Paludetto, R.; Sequino, L.; Andria, G.; Sibilio, Maurizio
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? 1-gen-2012 Melis, D; Cappuccio, G; Ginocchio, Vm; Minopoli, G; Valli, M; Corradi, M; Andria, G
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. 1-gen-2019 Giugliano, Teresa; Santoro, Claudia; Torella, Annalaura; Del Vecchio Blanco, Francesca; Grandone, Anna; Elena Onore, Maria; Anna Beatrice Melone, Mariarosa; Straccia, Giulia; Melis, Daniela; Piccolo, Vincenzo; Limongelli, Giuseppe; Buono, Salvatore; Perrotta, Silverio; Nigro, Vincenzo; Piluso, Giulio
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 1-gen-2022 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 1-gen-2022 Carli, D.; Operti, M.; Russo, S.; Cocchi, G.; Milani, D.; Leoni, C.; Prada, E.; Melis, D.; Falco, M.; Spina, J.; Uliana, V.; Sara, O.; Sirchia, F.; Tarani, L.; Macchiaiolo, M.; Cerrato, F.; Sparago, A.; Pignata, L.; Tannorella, P.; Cardaropoli, S.; Bartuli, A.; Riccio, A.; Ferrero, G. B.; Mussa, A.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature 1-gen-2022 Di Candia, F.; Fontana, P.; Paglia, P.; Falco, M.; Rosano, C.; Piscopo, C.; Cappuccio, G.; Siano, M. A.; De Brasi, D.; Mandato, C.; De Maggio, I.; Squeo, G. M.; Monica, M. D.; Scarano, G.; Lonardo, F.; Strisciuglio, P.; Merla, G.; Melis, D.
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants 1-gen-2023 Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome 1-gen-2021 D'Amico, A.; Cipullo, M. B.; Falco, M.; Ugga, L.; Melis, D.
Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome 1-gen-2020 Monda, Emanuele; Fusco, Adelaide; Melis, Daniela; Caiazza, Martina; Gragnano, Felice; Mauriello, Alfredo; Cirillo, Annapaola; Rubino, Marta; Esposito, Augusto; Grammegna, Angelina; Nistri, Stefano; Pepe, Guglielmina; Calabrò, Paolo; Strisciuglio, Pietro; Della Corte, Alessandro; Oppido, Guido; Russo, Mariagiovanna; Limongelli, Giuseppe
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 1-gen-2020 Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G; Bengala, Mario; Bennett, James T; Chambers, Chelsea; Clarkson, Lola K; Clementi, Maurizio; Cortés, Fanny M; Cunningham, Mitch; D'Agostino, M Daniela; Delatycki, Martin B; Digilio, Maria C; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S; Griffis, Cristin; Gripp, Karen W; Gupta, Punita; Haan, Eric; Hachen, Rachel K; Haygarth, Tamara L; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R; Lewis, Andrea M; Liebelt, Jan; Lichty, Angie; Listernick, Robert H; Lyons, Michael J; Maystadt, Isabelle; Martinez Ojeda, Mayra; Mcdougall, Carey; Mcgregor, Lesley K; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J M; Ortenberg, June; Panzer, Karin; Pappas, John G; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K; Pond, Dinel A; Powell, Cynthia M; Rogers, Caleb; Ruhrman Shahar, Noa; Rutledge, S Lane; Saletti, Veronica; Sandaradura, Sarah A; Santoro, Claudia; Schatz, Ulrich A; Schreiber, Allison; Scott, Daryl A; Sellars, Elizabeth A; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M; Smith, Rosemarie; Spalice, Alberto; Stockton, David W; Streff, Haley; Theos, Amy; Tomlinson, Gail E; Tran, Grace; Trapane, Pamela L; Trevisson, Eva; Ullrich, Nicole J; Van den Ende, Jenneke; Schrier Vergano, Samantha A; Wallace, Stephanie E; Wangler, Michael F; Weaver, David D; Yohay, Kaleb H; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B M; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings 1-gen-2021 D'Amico, A.; Rosano, C.; Pannone, L.; Pinna, V.; Assunto, A.; Motta, M.; Ugga, L.; Daniele, P.; Mandile, R.; Mariniello, L.; Siano, M. A.; Santoro, C.; Piluso, G.; Martinelli, S.; Strisciuglio, P.; De Luca, A.; Tartaglia, M.; Melis, D.
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome 1-gen-2015 Genesio, R.; Fontana, P.; Mormile, A.; Casertano, A.; Falco, M.; Conti, A.; Franzese, A.; Mozzillo, E.; Nitsch, L.; Melis, D.