Daniela MELIS | Publications
Daniela MELIS Publications
| 2024 | |
| Articolo in rivista | |
| Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles HGG ADVANCES. Vol. 5. Pag.1-19 ISSN:2666-2477. | |
| Sadegheh, Haghshenas; Hidde J, Bout; Josephine M, Schijns; Michael A, Levy; Jennifer, Kerkhof; Pratibha, Bhai; Haley, Mcconkey; Zandra A, Jenkins; Ella M, Williams; Benjamin J, Halliday; Sylvia A, Huisman; Peter, Lauffer; Vivian, de Waard; Laura, Witteveen; Siddharth, Banka; Angela F, Brady; Elena, Galazzi; Julien, van Gils; Anna C E, Hurst; Frank J, Kaiser; Didier, Lacombe; Antonio F, Martinez-Monseny; Patricia, Fergelot; Fabíola P, Monteiro; Ilaria, Parenti; Luca, Persani; Fernando, Santos-Simarro; Brittany N, Simpson; Mariëlle, Alders; Stephen P, Robertson; Bekim, Sadikovic; Menke, ; A The members of the MKHK Research Consortium are An- drea Angius, Leonie; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton- Smith, Jill; Crisponi, Laura; Mar ́ıa Cueto Gonza ́lez, Anna; DDD study, The; Devriendt, Koenraad; Dominguez Gar- rido, Elena; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P. M.; Faivre, Laurence; Fisher, Laura; Flores- Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; Garc ́ıa-Min ̃au ́r, Sixto; Garavelli, Livia; jana Gardeitchik, That-; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Gonzalez Garcia, Aixa; Riddervold Heimdal, Ketil; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovacevi, Maja; C, ; (Guus) Lachmeijer, A. M. A.; Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Ward Lichty, Angie; Lin, Ruth; Llano-Rivas, Isabel; Ann Lynch, Sally; Maas, Saskia M.; Maitz, Silvia B.; Mckee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Pat- terson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Per- sico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; raine Potocki, Lor-; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Peter Rake, Jan; van Ravenswaaij-Arts, Conny M. A.; Rea, Gillian; Ruivenkamp, Claudia; drey Rutz, Au-; C Saitta, Sulagna; Sanchez Russo, Rossana; Santen, Gijs W. E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao., Bing | |
| Digital Object Identifier (DOI): 10.1016/j.xhgg.2024.100287 Codice identificativo ISI: WOS:001233488300001 Codice identificativo SCOPUS: 2-s2.0-85190349831 | |
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| 2024 | |
| Articolo in rivista | |
| The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis ACTA NEUROLOGICA BELGICA. Vol. 124. Pag.224-230 ISSN:2240-2993. | |
| Di Stasi, Martina; Cocozza, Sirio; Buccino, Sara; Paolella, Chiara; Di Napoli, Linda; D'Amico, Alessandra; Melis, Daniela; Ugga, Lorenzo; Villano, Gianmichele; Ruocco, Manuel; Scala, Iris; Brunetti, Arturo; Elefante, Andrea | |
| Digital Object Identifier (DOI): 10.1007/s13760-023-02381-0 Codice identificativo ISI: WOS:001071106300001 Codice identificativo SCOPUS: 2-s2.0-85171661573 | |
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| 2024 | |
| Articolo in rivista | |
| A specific serum lipid signature characterizes patients with glycogen storage disease type Ia JOURNAL OF LIPID RESEARCH. Vol. 65. Pag.1-15 ISSN:0022-2275. | |
| Rossi, Alessandro; Ruoppolo, Margherita; Fedele, Roberta; Pirozzi, Francesca; Rosano, Carmen; Auricchio, Renata; Melis, Daniela; Strisciuglio, Pietro; Oosterveer, Maaike H; Derks, Terry G J; Parenti, Giancarlo; Caterino, Marianna | |
| Digital Object Identifier (DOI): 10.1016/j.jlr.2024.100651 Codice identificativo ISI: WOS:001337484400001 Codice identificativo SCOPUS: 2-s2.0-85206018070 | |
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| 2024 | |
| Articolo in rivista | |
| SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 111. Pag.1953-1969 ISSN:1537-6605. | |
| Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R; Bush, Stephen J; Maxwell, Dale W; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew Om; Lin, Angela E; Cormier-Daire, Valerie; Twigg, Stephen Rf; Tartaglia, Marco; Goriely, Anne | |
| Digital Object Identifier (DOI): 10.1016/j.ajhg.2024.07.006 Codice identificativo ISI: WOS:001312382400001 Codice identificativo SCOPUS: 2-s2.0-85202197296 | |
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| 2024 | |
| Articolo in rivista | |
| Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet) JOURNAL OF CLINICAL IMMUNOLOGY. Vol. 44. Pag.1-14 ISSN:1573-2592. | |
| Rossini, Linda; Ricci, Silvia; Montin, Davide; Azzari, Chiara; Gambineri, Eleonora; Tellini, Marco; Conti, Francesca; Pession, Andrea; Saettini, Francesco; Naviglio, Samuele; Valencic, Erica; Magnolato, Andrea; Baselli, Lucia; Azzolini, Sara; Consolini, Rita; Leonardi, Lucia; D'Alba, Irene; Carraro, Elisa; Romano, Roberta; Melis, Daniela; Stagi, Stefano; Cirillo, Emilia; Giardino, Giuliana; Biffi, Alessandra; Pignata, Claudio; Putti, Maria Caterina; Marzollo, Antonio | |
| Digital Object Identifier (DOI): 10.1007/s10875-024-01676-y Codice identificativo ISI: WOS:001210931800002 Codice identificativo SCOPUS: 2-s2.0-85191633844 | |
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| 2024 | |
| Articolo in rivista | |
| Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care REVIEWS IN ENDOCRINE AND METABOLIC DISORDERS. Vol. 25. Pag.707-725 ISSN:1573-2606. | |
| Rossi, Alessandro; Simeoli, Chiara; Pivonello, Rosario; Salerno, Mariacarolina; Rosano, Carmen; Brunetti, Barbara; Strisciuglio, Pietro; Colao, Annamaria; Parenti, Giancarlo; Melis, Daniela; Derks, Terry G J | |
| Digital Object Identifier (DOI): 10.1007/s11154-024-09880-2 Codice identificativo ISI: WOS:001194633500001 Codice identificativo SCOPUS: 2-s2.0-85189371728 | |
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| 2024 | |
| Articolo in rivista | |
| Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules GENETICS IN MEDICINE. Vol. 26. Pag.1-16 ISSN:1530-0366. | |
| Mastromoro, Gioia; Santoro, Claudia; Motta, Marialetizia; Sorrentino, Ugo; Daniele, Paola; Peduto, Cristina; Petrizzelli, Francesco; Tripodi, Martina; Pinna, Valentina; Zanobio, Mariateresa; Rotundo, Giovannina; Bellacchio, Emanuele; Lepri, Francesca; Farina, Antonella; D'Asdia, Maria Cecilia; Piceci-Sparascio, Francesca; Biagini, Tommaso; Petracca, Antonio; Castori, Marco; Melis, Daniela; Accadia, Maria; Traficante, Giovanna; Tarani, Luigi; Fontana, Paolo; Sirchia, Fabio; Paparella, Roberto; Currò, Aurora; Benedicenti, Francesco; Scala, Iris; Dentici, Maria Lisa; Leoni, Chiara; Trevisan, Valentina; Cecconi, Antonella; Giustini, Sandra; Pizzuti, Antonio; Salviati, Leonardo; Novelli, Antonio; Zampino, Giuseppe; Zenker, Martin; Genuardi, Maurizio; Digilio, Maria Cristina; Papi, Laura; Perrotta, Silverio; Nigro, Vincenzo; Castellanos, Elisabeth; Mazza, Tommaso; Trevisson, Eva; Tartaglia, Marco; Piluso, Giulio; De Luca, Alessandro | |
| Digital Object Identifier (DOI): 10.1016/j.gim.2024.101241 Codice identificativo ISI: WOS:001331416400001 Codice identificativo SCOPUS: 2-s2.0-85205222251 | |
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272885Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
| 2023 | |
| Articolo in rivista | |
| Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants EUROPEAN JOURNAL OF HUMAN GENETICS. Pag.1-9 ISSN:1476-5438. | |
| 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 | |
| Digital Object Identifier (DOI): 10.1038/s41431-023-01351-7 Codice identificativo ISI: WOS:000968060600002 Codice identificativo SCOPUS: 2-s2.0-85152662993 | |
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| 2023 | |
| Articolo in rivista | |
| Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia GENES & NUTRITION. Vol. 18. Pag.1-11 ISSN:1865-3499. | |
| Rossi, A.; Assunto, A.; Rosano, C.; Tucci, S.; Ruoppolo, M.; Caterino, M.; Pirozzi, F.; Strisciuglio, P.; Parenti, G.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1186/s12263-023-00729-y Codice identificativo ISI: WOS:001002671200001 Codice identificativo SCOPUS: 2-s2.0-85161330576 | |
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| 2023 | |
| Articolo in rivista | |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia NATURE COMMUNICATIONS. Vol. 14. Pag.1-16 ISSN:2041-1723. | |
| Mao, K.; Borel, C.; Ansar, M.; Jolly, A.; Makrythanasis, P.; Froehlich, C.; Iwaszkiewicz, J.; Wang, B.; Xu, X.; Li, Q.; Blanc, X.; Zhu, H.; Chen, Q.; Jin, F.; Ankamreddy, H.; Singh, S.; Zhang, H.; Wang, X.; Chen, P.; Ranza, E.; Paracha, S. A.; Shah, S. F.; Guida, V.; Piceci-Sparascio, F.; Melis, D.; Dallapiccola, B.; Digilio, M. C.; Novelli, A.; Magliozzi, M.; Fadda, M. T.; Streff, H.; Machol, K.; Lewis, R. A.; Zoete, V.; Squeo, G. M.; Prontera, P.; Mancano, G.; Gori, G.; Mariani, M.; Selicorni, A.; Psoni, S.; Fryssira, H.; Douzgou, S.; Marlin, S.; Biskup, S.; De Luca, A.; Merla, G.; Zhao, S.; Cox, T. C.; Groves, A. K.; Lupski, J. R.; Zhang, Q.; Zhang, Y. -B.; Antonarakis, S. E. | |
| Digital Object Identifier (DOI): 10.1038/s41467-023-37703-6 Codice identificativo ISI: WOS:001166947800026 Codice identificativo SCOPUS: 2-s2.0-85152272417 | |
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| 2023 | |
| Articolo in rivista | |
| Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia GENES & NUTRITION. Vol. 18. Pag.1-11 ISSN:1865-3499. | |
| Rossi, Alessandro; Assunto, Antonia; Rosano, Carmen; Tucci, Sara; Ruoppolo, Margherita; Caterino, Marianna; Pirozzi, Francesca; Strisciuglio, Pietro; Parenti, Giancarlo; Melis, Daniela | |
| Digital Object Identifier (DOI): 10.1186/s12263-023-00729-y Codice identificativo ISI: WOS:001002671200001 Codice identificativo SCOPUS: 2-s2.0-85161330576 | |
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372413Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
| 2023 | |
| Articolo in rivista | |
| Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 31. Pag.805-814 ISSN:1476-5438. | |
| 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 | |
| Digital Object Identifier (DOI): 10.1038/s41431-023-01351-7 Codice identificativo ISI: WOS:000968060600002 Codice identificativo SCOPUS: 2-s2.0-85152662993 | |
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| 2023 | |
| Articolo in rivista | |
| Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. JOURNAL OF MEDICAL GENETICS. Pag.1-16 ISSN:0022-2593. | |
| Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Sabrina Buonuomo, Paola; Bagnulo, Rosanna; Battista Ferrero, Giovanni; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Carmela Loconte, Daria; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Claudio Busca, Francesco; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Ceretta, Anna; Carmela Di Giacomo, Marilena; Saletti, Veronica; Mauro Spinelli, Alessandro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; D Irvine, Alan; Resta, Nicoletta | |
| Digital Object Identifier (DOI): 10.1136/jmedgenet-2021-108093 Codice identificativo ISI: WOS:000766726600001 Codice identificativo SCOPUS: 2-s2.0-85131402555 | |
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| 2023 | |
| Articolo in rivista | |
| Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development CANCERS. Vol. 15. Pag.773-780 ISSN:2072-6694. | |
| Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D'Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Digital Object Identifier (DOI): 10.3390/cancers15030773 Codice identificativo ISI: WOS:000929297000001 Codice identificativo SCOPUS: 2-s2.0-85147877719 | |
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| 2023 | |
| Articolo in rivista | |
| FOXI3 pathogenic variants cause one form of craniofacial microsomia NATURE COMMUNICATIONS. Vol. 14. Pag.2026-2039 ISSN:2041-1723. | |
| Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C; Groves, Andrew K; Lupski, James R; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E | |
| Digital Object Identifier (DOI): 10.1038/s41467-023-37703-6 Codice identificativo ISI: WOS:001050507000149 Codice identificativo SCOPUS: 2-s2.0-85152272417 | |
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| 2022 | |
| Articolo in rivista | |
| Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) antigen detection in the Emergency Department: data from a pediatric cohort during the fourth COVID-19 wave in Italy THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 48. Pag.155-158 ISSN:1720-8424. | |
| Pepe, A.; Valitutti, F.; Veneruso, D.; Bove, M.; De Anseris, A. G. E.; Nazzaro, L.; Pisano, P.; Melis, D.; Mandato, C. | |
| Digital Object Identifier (DOI): 10.1186/s13052-022-01343-1 Codice identificativo ISI: WOS:000844995300001 Codice identificativo SCOPUS: 2-s2.0-85137105555 | |
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245313DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
| 2022 | |
| Articolo in rivista | |
| DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies GENETICS IN MEDICINE. Vol. 24. Pag.51-60 ISSN:1098-3600. | |
| Kerkhof, J.; Squeo, G. M.; Mcconkey, H.; Levy, M. A.; Piemontese, M. R.; Castori, M.; Accadia, M.; Biamino, E.; Della Monica, M.; Di Giacomo, M. C.; Gervasini, C.; Maitz, S.; Melis, D.; Milani, D.; Piccione, M.; Prontera, P.; Selicorni, A.; Sadikovic, B.; Merla, G. | |
| Digital Object Identifier (DOI): 10.1016/j.gim.2021.08.007 Codice identificativo ISI: WOS:000819827500006 Codice identificativo SCOPUS: 2-s2.0-85122344784 | |
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| 2022 | |
| Articolo in rivista | |
| Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques CLINICAL GENETICS. Vol. 102. Pag.314-323 ISSN:1399-0004. | |
| 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 | |
| Digital Object Identifier (DOI): 10.1111/cge.14193 Codice identificativo ISI: WOS:000828547200001 Codice identificativo SCOPUS: 2-s2.0-85134512679 | |
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| 2022 | |
| Articolo in rivista | |
| Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: Data from the Campania Rare Disease Registry JOURNAL OF PUBLIC HEALTH. Vol. 44. Pag.586-594 ISSN:1741-3842. | |
| Limongelli, G.; Iucolano, S.; Monda, E.; Elefante, P.; De Stasio, C.; Lubrano, I.; Caiazza, M.; Mazzella, M.; Fimiani, F.; Galdo, M.; De Marchi, G.; Esposito, M.; Rubino, M.; Cirillo, A.; Fusco, A.; Esposito, A.; Trama, U.; Esposito, S.; Scarano, G.; Sepe, J.; Andria, G.; Orlando, V.; Menditto, E.; Chiodini, P.; Iolascon, A.; Franzese, A.; Zamparelli, A. S.; Tessitore, A.; Romano, A.; Venosa, A.; Olivieri, A. N.; Bianco, A.; Manna, A. L.; Cerbone, A. M.; Spasiano, A.; Stanziola, A. A.; Colao, A.; Bellis, A.; Gambale, A.; Toriello, A.; Tufano, A.; Ciampa, A.; Risitano, A. M.; Pisani, A.; Russo, A.; Volpe, A.; De Martino, B.; Amato, B.; De Fusco, C.; Piscopo, C.; Selleri, C.; Tucci, C.; Pignata, C.; Cioffi, D.; Melis, D.; Pasquali, D.; De Brasi, D.; Spitaleri, D.; De Brasi, D.; Russo, D.; Martellotta, D.; De Michele, E.; Varricchio, E.; Del Giudice, E. M.; Coscioni, E.; Cimino, E.; Pane, F.; Tranfa, F.; Pollio, F.; Lonardo, F.; Nuzzi, F.; Simonelli, F.; Trojsi, F.; Habetswallner, F.; Valentini, G.; Cerbone, G.; Parenti, G.; Tedeschi, G.; Capasso, G.; Rossi, G. B.; Gaglione, G.; Sarnelli, G.; Argenziano, G.; Bellastella, G.; De Michele, G.; Fiorentino, G.; Spadaro, G.; Scala, I.; Santoro, L.; Zeppa, L.; Auricchio, L.; Adinolfi, L. E.; Alessio, M.; Amitrano, M.; Savanelli, M. C.; Russo, M. G.; Ferrucci, M. G.; Carbone, M. T.; Pellecchia, M. T.; Salerno, M.; Melone, M.; Del Donno, M.; Vitale, M.; Triggiani, M.; Monica, M. D.; Presti, M. L.; Tenuta, M.; Mignogna, M. D.; Schiavulli, M.; Zacchia, M.; Brunetti-Pierri, N.; Iovino, P.; Moscato, P.; Iandoli, R.; Scarpa, R.; Russo, R.; Troisi, S.; Sbordone, S.; Perrotta, S.; Fecarotta, S.; Sampaolo, S.; Cicalese, V. | |
| Digital Object Identifier (DOI): 10.1093/pubmed/fdab137 Codice identificativo ISI: WOS:000764382900001 Codice identificativo SCOPUS: 2-s2.0-85137135176 | |
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| 2022 | |
| Articolo in rivista | |
| Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Vol. 23. Pag.328-346 ISSN:1422-0067. | |
| Resaz, R.; Cangelosi, D.; Segalerba, D.; Morini, M.; Uva, P.; Bosco, M. C.; Banderali, G.; Estrella, A.; Wanner, C.; Weinstein, D. A.; Sechi, A.; Paci, S.; Melis, D.; Di Rocco, M.; Lee, Y. M.; Eva, A. | |
| Digital Object Identifier (DOI): 10.3390/ijms23010328 Codice identificativo ISI: WOS:000741503600001 Codice identificativo SCOPUS: 2-s2.0-85122331584 | |
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372417DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
| 2022 | |
| Articolo in rivista | |
| DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies GENETICS IN MEDICINE. Vol. 24. Pag.51-60 ISSN:1530-0366. | |
| Kerkhof, Jennifer; Squeo, Gabriella Maria; Mcconkey, Haley; Levy, Michael A; Piemontese, Maria Rosaria; Castori, Marco; Accadia, Maria; Biamino, Elisa; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Gervasini, Cristina; Maitz, Silvia; Melis, Daniela; Milani, Donatella; Piccione, Maria; Prontera, Paolo; Selicorni, Angelo; Sadikovic, Bekim; Merla, Giuseppe | |
| Digital Object Identifier (DOI): 10.1016/j.gim.2021.08.007 Codice identificativo ISI: WOS:000819827500006 Codice identificativo SCOPUS: 2-s2.0-85122344784 | |
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| 2022 | |
| Articolo in rivista | |
| Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature EUROPEAN JOURNAL OF PEDIATRICS. Vol. 181. Pag.171-187 ISSN:0340-6199. | |
| 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. | |
| Digital Object Identifier (DOI): 10.1007/s00431-021-04108-w Codice identificativo ISI: WOS:000672223600001 Codice identificativo SCOPUS: 2-s2.0-85109602730 | |
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| 2022 | |
| Articolo in rivista | |
| Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques CLINICAL GENETICS. Vol. 102. Pag.314-323 ISSN:1399-0004. | |
| 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 | |
| Digital Object Identifier (DOI): 10.1111/cge.14193 Codice identificativo ISI: WOS:000828547200001 Codice identificativo SCOPUS: 2-s2.0-85134512679 | |
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| 2022 | |
| Articolo in rivista | |
| Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants JOURNAL OF MEDICAL GENETICS. Pag.1-18 ISSN:0022-2593. | |
| Mussa, A.; Leoni, C.; Iacoviello, M.; Carli, D.; Ranieri, C.; Pantaleo, A.; Buonuomo, P. S.; Bagnulo, R.; Ferrero, G. B.; Bartuli, A.; Melis, D.; Maitz, S.; Loconte, D. C.; Turchiano, A.; Piglionica, M.; De Luisi, A.; Susca, F. C.; Bukvic, N.; Forleo, C.; Selicorni, A.; Zampino, G.; Onesimo, R.; Cappuccio, G.; Garavelli, L.; Novelli, C.; Memo, L.; Morando, C.; Della Monica, M.; Accadia, M.; Capurso, M.; Piscopo, C.; Cereda, A.; Di Giacomo, M. C.; Saletti, V.; Spinelli, A. M.; Lastella, P.; Tenconi, R.; Dvorakova, V.; Irvine, A. D.; Resta, N. | |
| Digital Object Identifier (DOI): 10.1136/jmedgenet-2021-108093 Codice identificativo ISI: WOS:000766726600001 Codice identificativo SCOPUS: 2-s2.0-85131402555 | |
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| 2022 | |
| Articolo in rivista | |
| Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature FRONTIERS IN GENETICS. Vol. 13. Pag.902844-902850 ISSN:1664-8021. | |
| Simeoli, Chiara; de Angelis, Cristina; Delli Veneri, Alessandra; Menafra, Davide; Di Paola, Nicola; Pivonello, Claudia; Di Somma, Carolina; Valerio, Paolo; Melis, Daniela; Alviggi, Carlo; Colao, Annamaria; Pivonello, Rosario | |
| Digital Object Identifier (DOI): 10.3389/fgene.2022.902844 Codice identificativo ISI: WOS:000885097200001 Codice identificativo SCOPUS: 2-s2.0-85142102533 | |
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| 2022 | |
| Articolo in rivista | |
| Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity SCIENTIFIC REPORTS. Vol. 12. Pag.1-12 ISSN:2045-2322. | |
| 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. | |
| Digital Object Identifier (DOI): 10.1038/s41598-022-07855-4 Codice identificativo ISI: WOS:000769065000022 Codice identificativo SCOPUS: 2-s2.0-85126193731 | |
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| 2021 | |
| Articolo in rivista | |
| Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding CHILDS NERVOUS SYSTEM. Vol. 37. Pag.2927-2930 ISSN:0256-7040. | |
| D'Amico, A.; Di Stasi, M.; Ugga, L.; Perillo, T.; Santoro, C.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1007/s00381-021-05077-z Codice identificativo ISI: WOS:000616740300001 Codice identificativo SCOPUS: 2-s2.0-85100768363 | |
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| 2021 | |
| Articolo in rivista | |
| Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome NEUROLOGICAL SCIENCES. Vol. 42. Pag.655-663 ISSN:1590-1874. | |
| D'Amico, A.; Ugga, L.; Cocozza, S.; Giorgio, S. M. A.; Cicala, D.; Santoro, C.; Melis, D.; Cinalli, G.; Brunetti, A.; Pappata, S. | |
| Digital Object Identifier (DOI): 10.1007/s10072-020-04574-4 Codice identificativo ISI: WOS:000547218300003 Codice identificativo SCOPUS: 2-s2.0-85087690936 | |
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| 2021 | |
| Articolo in rivista | |
| Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome CHILDS NERVOUS SYSTEM. Vol. 37. Pag.3963-3966 ISSN:0256-7040. | |
| D'Amico, A.; Cipullo, M. B.; Falco, M.; Ugga, L.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1007/s00381-021-05149-0 Codice identificativo ISI: WOS:000636397600001 Codice identificativo SCOPUS: 2-s2.0-85103626432 | |
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| 2021 | |
| Articolo in rivista | |
| Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects CLINICAL GENETICS. Vol. 100. Pag.268-279 ISSN:0009-9163. | |
| Guida, V.; Sparascio, F. P.; Bernardini, L.; Pancheri, F.; Melis, D.; Cocciadiferro, D.; Pagnoni, M.; Puzzo, M.; Goldoni, M.; Barone, C.; Hozhabri, H.; Putotto, C.; Giuffrida, M. G.; Briuglia, S.; Palumbo, O.; Bianca, S.; Stanzial, F.; Benedicenti, F.; Kariminejad, A.; Forzano, F.; Baghernajad Salehi, L.; Mattina, T.; Brancati, F.; Castori, M.; Carella, M.; Fadda, M. T.; Iannetti, G.; Dallapiccola, B.; Digilio, M. C.; Marino, B.; Tartaglia, M.; De Luca, A. | |
| Digital Object Identifier (DOI): 10.1111/cge.13994 Codice identificativo ISI: WOS:000653240400001 Codice identificativo SCOPUS: 2-s2.0-85106290806 | |
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| 2021 | |
| Articolo in rivista | |
| The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb MOLECULAR GENETICS AND METABOLISM REPORTS. Vol. 29. Pag.100813-100820 ISSN:2214-4269. | |
| Resaz, R.; Raggi, F.; Segalerba, D.; Lavarello, C.; Gamberucci, A.; Bosco, M. C.; Astigiano, S.; Assunto, A.; Melis, D.; D'Acierno, M.; Veiga-da-Cunha, M.; Petretto, A.; Marcolongo, P.; Trepiccione, F.; Eva, A. | |
| Digital Object Identifier (DOI): 10.1016/j.ymgmr.2021.100813 Codice identificativo ISI: WOS:000712508800004 Codice identificativo SCOPUS: 2-s2.0-85117362160 | |
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| 2021 | |
| Articolo in rivista | |
| Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity ORPHANET JOURNAL OF RARE DISEASES. Vol. 16. Pag.1-12 ISSN:1750-1172. | |
| Siano, M. A.; Marchetti, V.; Pagano, S.; Di Candia, F.; Alessio, M.; De Brasi, D.; De Luca, A.; Pinna, V.; Sestito, S.; Concolino, D.; Tartaglia, M.; Strisciuglio, P.; D'Esposito, V.; Cabaro, S.; Perruolo, G.; Formisano, P.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1186/s13023-021-02050-6 Codice identificativo ISI: WOS:000702781900001 Codice identificativo SCOPUS: 2-s2.0-85116893585 | |
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| 2021 | |
| Articolo in rivista | |
| Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review FRONTIERS IN PEDIATRICS. Vol. 9. Pag.672004-672020 ISSN:2296-2360. | |
| Siano, M. A.; Mandato, C.; Nazzaro, L.; Iannicelli, G.; Ciccarelli, G. P.; Barretta, F.; Mazzaccara, C.; Ruoppolo, M.; Frisso, G.; Baldi, C.; Tartaglione, S.; Di Salle, F.; Melis, D.; Vajro, P. | |
| Digital Object Identifier (DOI): 10.3389/fped.2021.672004 Codice identificativo ISI: WOS:000653064500001 Codice identificativo SCOPUS: 2-s2.0-85107020536 | |
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| 2021 | |
| Articolo in rivista | |
| Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review CLINICAL RHEUMATOLOGY. Vol. 40. Pag.4341-4348 ISSN:0770-3198. | |
| Orlando, F.; Naddei, R.; Stellacci, E.; Gallinoro, C. M.; Melis, D.; Tartaglia, M.; Alessio, M. | |
| Digital Object Identifier (DOI): 10.1007/s10067-021-05653-3 Codice identificativo ISI: WOS:000623716700001 Codice identificativo SCOPUS: 2-s2.0-85101923214 | |
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| 2021 | |
| Articolo in rivista | |
| RASopathies and hemostatic abnormalities: key role of platelet dysfunction ORPHANET JOURNAL OF RARE DISEASES. Vol. 16. Pag.1-7 ISSN:1750-1172. | |
| Di Candia, F.; Marchetti, V.; Cirillo, F.; Di Minno, A.; Rosano, C.; Pagano, S.; Siano, M. A.; Falco, M.; Assunto, A.; Boccia, G.; Magliacane, G.; Pinna, V.; De Luca, A.; Tartaglia, M.; Di Minno, G.; Strisciuglio, P.; Melis, D. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/s13023-021-02122-7 Codice identificativo ISI: WOS:000725493500001 Codice identificativo SCOPUS: 2-s2.0-85120727736 | |
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| 2021 | |
| Articolo in rivista | |
| Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding NEURORADIOLOGY. Vol. 63. Pag.971-974 ISSN:0028-3940. | |
| D'Amico, A.; Perillo, T.; Ugga, L.; Melis, D.; Santoro, C.; Piluso, G.; Cinalli, G.; Russo, C. | |
| Digital Object Identifier (DOI): 10.1007/s00234-021-02647-5 Codice identificativo ISI: WOS:000609959200002 Codice identificativo SCOPUS: 2-s2.0-85099585238 | |
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| 2021 | |
| Articolo in rivista | |
| Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION. Vol. 73. Pag.444-454 ISSN:1536-4801. | |
| Colantuono, R.; D'Acunto, E.; Melis, D.; Vajro, P.; Freeze, H. H.; Mandato, C. | |
| Digital Object Identifier (DOI): 10.1097/MPG.0000000000003209 Codice identificativo ISI: WOS:000693260000018 Codice identificativo SCOPUS: 2-s2.0-85117426229 | |
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| 2021 | |
| Articolo in rivista | |
| Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Vol. 22. Pag.1-19 ISSN:1661-6596. | |
| Guida, V.; Calzari, L.; Fadda, M. T.; Piceci-Sparascio, F.; Digilio, M. C.; Bernardini, L.; Brancati, F.; Mattina, T.; Melis, D.; Forzano, F.; Briuglia, S.; Mazza, T.; Bianca, S.; Valente, E. M.; Salehi, L. B.; Prontera, P.; Pagnoni, M.; Tenconi, R.; Dallapiccola, B.; Iannetti, G.; Corsaro, L.; Luca, A. D.; Gentilini, D. | |
| Digital Object Identifier (DOI): 10.3390/ijms22031190 Codice identificativo ISI: WOS:000615288600001 Codice identificativo SCOPUS: 2-s2.0-85099950529 | |
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| 2021 | |
| Articolo in rivista | |
| Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings CLINICAL GENETICS. Vol. 100. Pag.563-572 ISSN:0009-9163. | |
| 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. | |
| Digital Object Identifier (DOI): 10.1111/cge.14040 Codice identificativo ISI: WOS:000686377800001 Codice identificativo SCOPUS: 2-s2.0-85112707460 | |
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| 2021 | |
| Articolo in rivista | |
| A pilot clinical trial with losartan in Myhre syndrome AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 185. Pag.702-709 ISSN:1552-4825. | |
| Cappuccio, G.; Caiazza, M.; Roca, A.; Melis, D.; Iuliano, A.; Matyas, G.; Rubino, M.; Limongelli, G.; Brunetti-Pierri, N. | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.62019 Codice identificativo ISI: WOS:000601410800001 Codice identificativo SCOPUS: 2-s2.0-85099504377 | |
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| 2020 | |
| Articolo in rivista | |
| Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance CLINICAL EPIGENETICS. Vol. 12. Pag.139-145 ISSN:1868-7083. | |
| Cubellis, M. V.; Pignata, L.; Verma, A.; Sparago, A.; Del Prete, R.; Monticelli, M.; Calzari, L.; Antona, V.; Melis, D.; Tenconi, R.; Russo, S.; Cerrato, F.; Riccio, A. | |
| Digital Object Identifier (DOI): 10.1186/s13148-020-00925-2 Codice identificativo ISI: WOS:000571957200001 Codice identificativo SCOPUS: 2-s2.0-85091052369 | |
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| 2020 | |
| Articolo in rivista | |
| Retrospective multicentric study on non-optic CNS tumors in children and adolescents with neurofibromatosis type 1 CANCERS. Vol. 12. Pag.1426-1443 ISSN:2072-6694. | |
| Santoro, C.; Picariello, S.; Palladino, F.; Spennato, P.; Melis, D.; Roth, J.; Cirillo, M.; Quaglietta, L.; D'Amico, A.; Gaudino, G.; Meucci, M. C.; Ferrara, U.; Constantini, S.; Perrotta, S.; Cinalli, G. | |
| Digital Object Identifier (DOI): 10.3390/cancers12061426 Codice identificativo ISI: WOS:000549328200001 Codice identificativo SCOPUS: 2-s2.0-85086030491 | |
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| 2020 | |
| Articolo in rivista | |
| Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome CLINICAL GENETICS. Pag.1-7 ISSN:0009-9163. | |
| Cordeddu, V.; Macke, E. L.; Radio, F. C.; Lo Cicero, S.; Pantaleoni, F.; Tatti, M.; Bellacchio, E.; Ciolfi, A.; Agolini, E.; Bruselles, A.; Brunetti-Pierri, N.; Suri, M.; Josephs, K. S.; Mcentagart, M.; Lanpher, B.; Nickels, K. C.; Haworth, A.; Reed, L.; Cappuccio, G.; Mammi, I.; Tarnowski, J. M.; Novelli, A.; Melis, D.; Callewaert, B.; Dallapiccola, B.; Klee, E.; Tartaglia, M. | |
| Digital Object Identifier (DOI): 10.1111/cge.13775 Codice identificativo ISI: WOS:000537281100001 Codice identificativo SCOPUS: 2-s2.0-85085871295 | |
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| 2020 | |
| Articolo in rivista | |
| Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1. CANCERS. Pag.1-18 ISSN:2072-6694. | |
| Santoro, Claudia; Picariello, Stefania; Palladino, Federica; Spennato, Pietro; Melis, Daniela; Roth, Jonathan; Cirillo, Mario; Quaglietta, Lucia; D'Amico, Alessandra; Gaudino, Giuseppina; Chiara Meucci, Maria; Ferrara, Ursula; Constantini, Shlomi; 1, Silverio Perrotta; 4, Giuseppe Cinalli | |
| Codice identificativo ISI: WOS:000549328200001 Codice identificativo SCOPUS: 2-s2.0-85086030491 | |
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| 2020 | |
| Articolo in rivista | |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1 HUMAN MUTATION. Vol. 41. Pag.299-315-315 ISSN:1059-7794. | |
| 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 | |
| Digital Object Identifier (DOI): 10.1002/humu.23929 Codice identificativo ISI: WOS:000492598500001 Codice identificativo SCOPUS: 2-s2.0-85074609550 | |
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| 2020 | |
| Articolo in rivista | |
| Primrose syndrome: Characterization of the phenotype in42 patients CLINICAL GENETICS. Pag.890-901 ISSN:1399-0004. | |
| Melis, Daniela; Carvalho, Daniel; Barbaro-Dieter, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayana, Vinod; Ortiz, Damara; Overwater, Eline; Posmyk, Renata; Ramsey, Keri; Rossi, Alessandro; Lazari Sandoval, Renata; Stumpel, Constance; Stuurman, Kyra E.; Cordeddu, Viviana; Turnpenny, Peter; Strisciuglio, Pietro; Tartaglia, Marco; Unger, Sheela; Waters, Todd; Turnbull, Clare; Hennekam, Raoul C. | |
| Digital Object Identifier (DOI): 10.1111/cge.13749 Codice identificativo ISI: WOS:000527070600001 Codice identificativo SCOPUS: 2-s2.0-85083666392 | |
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| 2020 | |
| Articolo in rivista | |
| Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations JOURNAL OF INHERITED METABOLIC DISEASE. Vol. 1. Pag.1-10 ISSN:0141-8955. | |
| Rossi, Alessandro; Hoogeveen, Irene J; Bastek, Vanessa B; de Boer, Foekje; Montanari, Chiara; Meyer, Uta; Maiorana, Arianna; Bordugo, Andrea; Dianin, Alice; Campana, Carmen; Rigoldi, Miriam; Kishnani, Priya S; Pendyal, Surekha; Strisciuglio, Pietro; Gasperini, Serena; Parenti, Giancarlo; Parini, Rossella; Paci, Sabrina; Melis, Daniela; Derks, Terry G J | |
| Digital Object Identifier (DOI): 10.1002/jimd.12224 Codice identificativo ISI: WOS:000552030200013 Codice identificativo SCOPUS: 2-s2.0-85080101501 | |
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| 2020 | |
| Articolo in rivista | |
| Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome CARDIOLOGY IN THE YOUNG. Pag.1-5 ISSN:1047-9511. | |
| 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 | |
| Digital Object Identifier (DOI): 10.1017/S1047951120000748 Codice identificativo ISI: WOS:000562445100010 Codice identificativo SCOPUS: 2-s2.0-85083389862 | |
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| 2020 | |
| Articolo in rivista | |
| Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement ORPHANET JOURNAL OF RARE DISEASES. Vol. 15. Pag.1-10 ISSN:1750-1172. | |
| Rossi, Alessandro; Simeoli, Chiara; Salerno, Mariacarolina; Ferrigno, Rosario; Della Casa, Roberto; Colao, Annamaria; Strisciuglio, Pietro; Parenti, Giancarlo; Pivonello, Rosario; Melis, Daniela | |
| Digital Object Identifier (DOI): 10.1186/s13023-020-01377-w Codice identificativo ISI: WOS:000529211600004 Codice identificativo SCOPUS: 2-s2.0-85083755532 | |
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| 2020 | |
| Articolo in rivista | |
| Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder EJMG. Vol. 1. Pag.1-10 ISSN:1468-6244. | |
| Squeo, Gabriella Maria; Augello, Bartolomeo; Massa, Valentina; Milani, Donatella; Colombo, Elisa Adele; Mazza, Tommaso; Castellana, Stefano; Piccione, Maria; Maitz, Silvia; Petracca, Antonio; Prontera, Paolo; Accadia, Maria; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Melis, Daniela; Selicorni, Angelo; Giglio, Sabrina; Fischetto, Rita; Di Fede, Elisabetta; Malerba, Natascia; Russo, Matteo; Castori, Marco; Gervasini, Cristina; Merla, Giuseppe | |
| Digital Object Identifier (DOI): 10.1136/jmedgenet-2019-106724 Codice identificativo ISI: WOS:000582822300005 Codice identificativo SCOPUS: 2-s2.0-85082113849 | |
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| 2019 | |
| Articolo in rivista | |
| Mutation update for the SATB2 gene HUMAN MUTATION. Pag.1013-1029 ISSN:1059-7794. | |
| Zarate, Ya; Bosanko, Ka; Caffrey, Ar; Bernstein, Ja; Martin, Dm; Williams, Ms; Berry-Kravis, Em; Mark, Pr; Manning, Ma; Bhambhani, V; Vargas, M; Seeley, Ah; Estrada-Veras, Ji; van Dooren, Mf; Schwab, M; Vanderver, A; Melis, D; Alsadah, A; Sadler, L; Van Esch, H; Callewaert, B; Oostra, A; Maclean, J; Dentici, Ml; Orlando, V; Lipson, M; Sparagana, Sp; Maarup, Tj; Alsters, Si; Brautbar, A; Thropp, Ek; Naidu, S; Lees, M; Smith, Dm; Turner, L; Raggio, V; Spangenberg, L; Garcia-Miñaúr, S; Roeder, Er; Littlejohn, Ro; Grange, D; Pfotenhauer, J; Jones, Mc; Balasubramanian, M; Martinez-Monseny, A; Blok, Ls; Gavrilova, R; Fish, Jl. | |
| Digital Object Identifier (DOI): 10.1002/humu.23771 Codice identificativo ISI: WOS:000480595600003 Codice identificativo SCOPUS: 2-s2.0-85069917016 | |
| Show it in Product Database (IRIS) |
| 2019 | |
| Articolo in rivista | |
| Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 ORPHANET JOURNAL OF RARE DISEASES. Vol. 14. Pag.261-270 ISSN:1750-1172. | |
| Assunto, A.; Ferrara, U.; De Luca, A.; Pivonello, C.; Lombardo, L.; Piscitelli, A.; Tortora, C.; Pinna, V.; Daniele, P.; Pivonello, R.; Russo, M. G.; Limongelli, G.; Colao, A.; Tartaglia, M.; Strisciuglio, P.; Melis, D. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/s13023-019-1223-1 Codice identificativo ISI: WOS:000497424400004 Codice identificativo SCOPUS: 2-s2.0-85075114806 | |
| Show it in Product Database (IRIS) |
175657Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
| 2019 | |
| Articolo in rivista | |
| Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes GENETICAL RESEARCH. Vol. 101. Pag.e3-e10 ISSN:0016-6723. | |
| Mackay, Deborah J G; Bliek, Jet; Lombardi, Maria Paola; Russo, Silvia; Calzari, Luciano; Guzzetti, Sara; Izzi, Claudia; Selicorni, Angelo; Melis, Daniela; Temple, Karen; Maher, Eamonn; Brioude, Frédéric; Netchine, Irène; Eggermann, Thomas | |
| Digital Object Identifier (DOI): 10.1017/S001667231900003X Codice identificativo ISI: WOS:000460168100001 Codice identificativo SCOPUS: 2-s2.0-85062416209 | |
| Show it in Product Database (IRIS) |
| 2019 | |
| Articolo in rivista | |
| Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome,and Other Related Neurocutaneous Disorders. GENE. Vol. 10. Pag.580-584 ISSN:0378-1119. | |
| 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 | |
| Versione online | |
| Codice identificativo ISI: WOS:000483744500035 Codice identificativo SCOPUS: 2-s2.0-85070593964 | |
| Show it in Product Database (IRIS) |
| 2019 | |
| Articolo in rivista | |
| Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease GENES. Pag.1-14 ISSN:2073-4425. | |
| Valentina Pinna, 1; †, ; Paola Daniele, 1; †, ; Giulio Calcagni, 2; Lucio Mariniello, 3; Roberta Criscione, 1; 4, ; Chiara Giardina, 1; 4, ; Francesca Romana Lepri, 5; Hossein Hozhabri, 1; Angela Alberico, 1; Stefania Cavone, 1; Annunziata Tina Morella, 1; Roberta Mandile, 3; Francesca Annunziata, 1; Niccolò Di Giosaffatte, 1; Maria Cecilia D’Asdia, 1; Paolo Versacci, 4; Rossella Capolino, 5; Pietro Strisciuglio, 3; Sandra Giustini, 6; Melis, Daniela; Maria Cristina Digilio, 5; Marco Tartaglia, 5; Bruno Marino, 4 and Alessandro De Luca 1 | |
| Codice identificativo ISI: WOS:000487954700065 Codice identificativo SCOPUS: 2-s2.0-85071740488 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 176. Pag.1253-1257 ISSN:1552-4825. | |
| Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.38677 Codice identificativo ISI: WOS:000433440600030 Codice identificativo SCOPUS: 2-s2.0-85045832538 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Medullary unidentified bright objects in Neurofibromatosis type 1: a case series AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 176. Pag.1253-1257 ISSN:1552-4825. | |
| Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.38677 Codice identificativo ISI: WOS:000433440600030 Codice identificativo SCOPUS: 2-s2.0-85045832538 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Medullary unidentified bright objects in Neurofibromatosis type 1: a case series BMC PEDIATRICS. Vol. 18. Pag.1-5 ISSN:1471-2431. | |
| D'Amico, Alessandra; Mazio, Federica; Ugga, Lorenzo; Cuocolo, Renato; Cirillo, Mario; Santoro, Claudia; Perrotta, Silverio; Melis, Daniela; Brunetti, Arturo | |
| Digital Object Identifier (DOI): 10.1186/s12887-018-1067-1 Codice identificativo ISI: WOS:000426647100001 Codice identificativo SCOPUS: 2-s2.0-85042560487 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Medullary unidentified bright objects in Neurofibromatosis type 1: A case series BMC PEDIATRICS. Vol. 18. Pag.1-5 ISSN:1471-2431. | |
| D'Amico, Alessandra; Mazio, Federica; Ugga, Lorenzo; Cuocolo, Renato; Cirillo, Mario; Santoro, Claudia; Perrotta, Silverio; Melis, Daniela; Brunetti, Arturo | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/s12887-018-1067-1 Codice identificativo ISI: WOS:000426647100001 Codice identificativo SCOPUS: 2-s2.0-85042560487 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Invitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS). NEUROGENETICS. Vol. 19. Pag.77-91 ISSN:1364-6745. | |
| Ranieri, C; Di Tommaso, S; Loconte, Dc; Grossi, V; Sanese, P; Bagnulo, R; Susca, Fc; Forte, G; Peserico, A; De Luisi, A; Bartuli, A; Selicorni, A; Melis, D; Lerone, M; Praticò, Ad; Abbadessa, G; Yu, Y; Schwartz, B; Ruggieri, M; Simone, C; Resta, N. | |
| Digital Object Identifier (DOI): 10.1007/s10048-018-0540-1. Codice identificativo ISI: WOS:000432523600002 Codice identificativo SCOPUS: 2-s2.0-85044070239 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Invitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblastcells derived from patients with PIK3CA-related overgrowth spectrum (PROS). NEUROGENETICS. Pag.77-91 ISSN:1364-6745. | |
| Ranieri, C; Di Tommaso, S; Loconte, Dc; Grossi, V; Sanese, P; Bagnulo, R; Susca, Fc; Forte, G; Peserico, A; De Luisi, A; Bartuli, A; Selicorni, A; Melis, D; Lerone, M; Praticò, Ad; Abbadessa, G; Y, Yu; Schwartz, B; Ruggieri, M; Simone, C; Resta, N | |
| Digital Object Identifier (DOI): 10.1007/s10048-018-0540-1 Codice identificativo ISI: WOS:000432523600002 Codice identificativo SCOPUS: 2-s2.0-85044070239 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Whole exome sequencing identifiesMRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.PLoS One. 2018 Jul 12;13(7):e0200446. PLOS GENETICS. Pag.1-15 ISSN:1553-7404. | |
| Santoro, C; Giugliano, T; Kraemer, M; Torella, A; Schwitalla, Jc; Cirillo, M; Melis, D; Berlit, P; Nigro, V; Perrotta, S; Piluso, G. | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1 PLOS ONE. Vol. 13. Pag.e0200446-e0200450 ISSN:1932-6203. | |
| Santoro, C.; Giugliano, T.; Kraemer, M.; Torella, A.; Schwitalla, J. C.; Cirillo, M.; Melis, D.; Berlit, P.; Nigro, V.; Perrotta, S.; Piluso, G. | |
| Digital Object Identifier (DOI): 10.1371/journal.pone.0200446 Codice identificativo ISI: WOS:000438457400055 Codice identificativo SCOPUS: 2-s2.0-85050891135 | |
| Show it in Product Database (IRIS) |
| 2018 | |
| Articolo in rivista | |
| Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A,Parenti G, Strisciuglio P, Melis D. Insulin-resistance in glycogen storage disease type Ia:linking carbohydrates and mitochondria?J Inherit Metab Dis. 2018 Nov;41(6):985-995. doi: 10.1007/s10545-018-0149-4.IF 4.827. Citazioni 8(Google Scholar), 7 (Scopus), 4 (ISI web of Science) JOURNAL OF INHERITED METABOLIC DISEASE. Vol. 41. Pag.985-995 ISSN:1573-2665. | |
| Rossi, A; Ruoppolo, M; Formisano, P; Villani, G; Albano, L; Gallo, G; Crisci, D; Moccia, A; Parenti, G; Strisciuglio, P; Melis, D. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1007/s10545-018-0149-4 Codice identificativo ISI: WOS:000456023800014 Codice identificativo SCOPUS: 2-s2.0-85041930528 | |
| Show it in Product Database (IRIS) |
| 2017 | |
| Articolo in rivista | |
| Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? JOURNAL OF PEDIATRIC GENETICS. Vol. 6. Pag.181-185 ISSN:2146-4596. | |
| Fontana, P; Melis, D; D'Amico, A; Cappuccio, G; Auletta, G; Vassallo, P; Genesio, R; Nitsch, L; Buffolano, W | |
| Digital Object Identifier (DOI): 10.1055/s-0037-1599223 Codice identificativo ISI: WOS:000407377100009 | |
| Show it in Product Database (IRIS) |
197294Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome
| 2017 | |
| Articolo in rivista | |
| Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 173. Pag.1896-1902 ISSN:1552-4825. | |
| Casertano, A.; Fontana, P.; Hennekam, R. C.; Tartaglia, M.; Genesio, R.; Dieber, T. B.; Ortega, L.; Nitsch, L.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.38124 Codice identificativo ISI: WOS:000406759100022 Codice identificativo SCOPUS: 2-s2.0-85018335356 | |
| Show it in Product Database (IRIS) |
| 2017 | |
| Articolo in rivista | |
| Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function JOURNAL OF IMMUNOLOGY. Vol. 198. Pag.3803-3808 ISSN:0022-1767. | |
| Melis, Daniela; Carbone, Fortunata; Minopoli, Giorgia; La Rocca, Claudia; Perna, Francesco; DE ROSA, Veronica; Galgani, Mario; Andria, Generoso; Parenti, Giancarlo; Matarese, Giuseppe | |
| Versione online | |
| Digital Object Identifier (DOI): 10.4049/jimmunol.1601946 Codice identificativo ISI: WOS:000401137200004 Codice identificativo SCOPUS: 2-s2.0-85019735106 | |
| Show it in Product Database (IRIS) |
| 2017 | |
| Articolo in rivista | |
| Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies? JOURNAL OF PEDIATRIC GENETICS. Vol. 6. Pag.181-185 ISSN:2146-4596. | |
| Fontana, P; Melis, D; D'Amico, A; Cappuccio, G; Auletta, G; Vassallo, P; Genesio, Rita; Nitsch, L; Buffolano, W | |
| Digital Object Identifier (DOI): 10.1055/s-0037-1599223 Codice identificativo ISI: WOS:000407377100009 | |
| Show it in Product Database (IRIS) |
| 2017 | |
| Articolo in rivista | |
| Cutting edge: Increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T Cells and an impaired regulatory T Cell function JOURNAL OF IMMUNOLOGY. Vol. 198. Pag.3803-3808 ISSN:0022-1767. | |
| Melis, D.; Carbone, F.; Minopoli, G.; La Rocca, C.; Perna, F.; De Rosa, V.; Galgani, M.; Andria, G.; Parenti, G.; Matarese, G. | |
| Digital Object Identifier (DOI): 10.4049/jimmunol.1601946 Codice identificativo ISI: WOS:000401137200004 Codice identificativo SCOPUS: 2-s2.0-85019735106 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Abstract in Atti di convegno | |
| Plasma acylcarnitines and urine organic acids profiles provide evidence for possible mitochondrial dysfunction in glycogen storage disease type Ia. In: Atti dell’Annual Symposium SSIEM (Society for the study of Inborn Errors of Metabolism) Pag.1-1 | |
| Annual Symposium SSIEM (Society for the study of Inborn Errors of Metabolism) Roma 6-9 settembre 2016 | |
| Rossi, Alessandro; Ruoppolo, Margherita; Formisano, Pietro; Villani, GUGLIELMO ROSARIO DOMENI; Albano, L.; Gallo, G.; Moccia, A.; Parenti, Giancarlo; Strisciuglio, Pietro; Melis, Daniela | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 24. Pag.183-190 ISSN:1018-4813. | |
| Mussa, A; Russo, S; De Crescenzo, A; Freschi, A; Calzari, L; Maitz, S; Macchiaiolo, M; Molinatto, C; Baldassarre, G; Mariani, M; Tarani, L; Bedeschi, Mf; Milani, D; Melis, D; Bartuli, A; Cubellis, Mv; Selicorni, A; Cirillo Silengo, M; Larizza, L; Riccio, A; Ferrero, Gb | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1038/ejhg.2015.88 Codice identificativo ISI: WOS:000370469400006 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes CLINICAL EPIGENETICS. Vol. 8. Pag.1-15 ISSN:1868-7083. | |
| 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. | |
| Digital Object Identifier (DOI): 10.1186/s13148-016-0206-5 Codice identificativo ISI: WOS:000374672500001 Codice identificativo SCOPUS: 2-s2.0-84978066034 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defectsunderlying Silver-Russell and Beckwith-Wiedemann syndromes. CLINICAL EPIGENETICS. Pag.23-30 ISSN:1868-7083. | |
| 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. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/s13148-016-0183-8 Codice identificativo SCOPUS: 2-s2.0-84963626026 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| Fetal growth patterns in Beckwith–Wiedemann syndrome CLINICAL GENETICS. Vol. 90. Pag.21-27 ISSN:0009-9163. | |
| Mussa, A.; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M. F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M. V.; Selicorni, A.; Silengo, M. C.; Larizza, L.; Riccio, A.; Ferrero, G. B. | |
| Digital Object Identifier (DOI): 10.1111/cge.12759 Codice identificativo ISI: WOS:000378652000003 Codice identificativo SCOPUS: 2-s2.0-85027933365 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 170. Pag.2681-2693 ISSN:1552-4825. | |
| Menke, L. A.; van Belzen, M. J.; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; Foster, A.; Gerkes, E. H.; Hoffer, M. J. V.; Horn, D.; Kant, S. G.; Lacombe, D.; Leon, E.; Maas, S. M.; Melis, D.; Muto, V.; Park, S.; Peeters, H.; Peters, D. J. M.; Pfundt, R.; van Ravenswaaij-Arts, C. M. A.; Tartaglia, M.; Hennekam, R. C. M. | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.37800 Codice identificativo ISI: WOS:000383612200026 Codice identificativo SCOPUS: 2-s2.0-84977583323 | |
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| 2016 | |
| Articolo in rivista | |
| New insights in the interpretation of array-CGH: Autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 42. Pag.39-45 ISSN:1720-8424. | |
| Cappuccio, G.; Vitiello, F.; Casertano, A.; Fontana, P.; Genesio, R.; Bruzzese, D.; Ginocchio, V. M.; Mormile, A.; Nitsch, L.; Andria, G.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1186/s13052-016-0246-7 Codice identificativo ISI: WOS:000374520600001 Codice identificativo SCOPUS: 2-s2.0-84963865256 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis BONE. Vol. 86. Pag.79-85 ISSN:8756-3282. | |
| Melis, D.; Rossi, A.; Pivonello, R.; Del Puente, A.; Pivonello, C.; Cangemi, G.; Negri, M.; Colao, A.; Andria, G.; Parenti, G. | |
| Digital Object Identifier (DOI): 10.1016/j.bone.2016.02.012 Codice identificativo ISI: WOS:000374512700010 Codice identificativo SCOPUS: 2-s2.0-84960361523 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| Vitamin E improves clinical outcome of patients affected by glycogen storage disease type Ib JIMD REPORTS. Vol. 25. Pag.39-45 ISSN:2192-8304. | |
| Melis, D.; Minopoli, G.; Balivo, F.; Marcolongo, P.; Parini, R.; Paci, S.; Dionisi-Vici, C.; Della Casa, R.; Benedetti, A.; Andria, G.; Parenti, G. | |
| Digital Object Identifier (DOI): 10.1007/8904_2015_461 Codice identificativo ISI: WOS:000405113700007 Codice identificativo SCOPUS: 2-s2.0-85042803090 | |
| Show it in Product Database (IRIS) |
| 2016 | |
| Articolo in rivista | |
| CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 170. Pag.2681-2693 ISSN:1552-4825. | |
| Menke, La; van Belzen, Mj; Alders, M; Cristofoli, F; Ddd, Study; Ehmke, N; Fergelot, P; Foster, A; Gerkes, Eh; Hoffer, Mj; Horn, D; Kant, Sg; Lacombe, D; Leon, E; Maas, Sm; Melis, D; Muto, V; Park, Sm; Peeters, H; Peters, Dj; Pfundt, R; van Ravenswaaij-Arts, Cm; Tartaglia, M; Hennekam, Rc. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.37800 Codice identificativo ISI: WOS:000383612200026 Codice identificativo SCOPUS: 2-s2.0-84988447945 | |
| Show it in Product Database (IRIS) |
| 2015 | |
| Articolo in rivista | |
| Thiamine responsive megaloblastic anemia: a novel SLC19A2 compoundheterozygous mutation in two siblings PEDIATRIC DIABETES. Vol. 14. Pag.384-387 ISSN:1399-543X. | |
| Mozzillo, E; Melis, D; Falco, M; Fattorusso, V; Taurisano, R; Flanagan, Se; Ellard, S; Franzese, A | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1111/j.1399-5448.2012.00921.x Codice identificativo ISI: WOS:000322989100010 Codice identificativo SCOPUS: 2-s2.0-84881030218 | |
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161955Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.
| 2015 | |
| Articolo in rivista | |
| Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome. MOLECULAR CYTOGENETICS. Vol. 8. Pag.1-6 ISSN:1755-8166. | |
| Genesio, R; Fontana, P; Mormile, A; Casertano, A; Falco, M; Conti, A; Franzese, A; Mozzillo, E; Nitsch, L; Melis, D | |
| Digital Object Identifier (DOI): 10.1186/s13039-015-0199-3 Codice identificativo ISI: WOS:000366974700001 Codice identificativo SCOPUS: 2-s2.0-84950269861 | |
| Show it in Product Database (IRIS) |
| 2015 | |
| Articolo in rivista | |
| Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 23. Pag.292-301 ISSN:1018-4813. | |
| Verloes, A; Di Donato, N; Masliah-Planchon, J; Jongmans, M; Abdul-Raman, Oa; 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, Hk; Lacombe, D; Lin, A; Mancini, G; Melis, D; Lourenço, Cm; Siu, Vm; Morin, G; Nezarati, M; Nowaczyk, Mj; Ramer, Jc; Osimani, S; Philip, N; Pierpont, Me; Procaccio, V; Roseli, Zs; Rossi, M; Rusu, C; Sznajer, Y; Templin, L; Uliana, V; Klaus, M; Van Bon, B; Van Ravenswaaij, C; Wainer, B; Fry, Ae; Rump, A; Hoischen, A; Drunat, S; Rivière, Jb; Dobyns, Wb; Pilz, Dt | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1038/ejhg.2014.95 Codice identificativo ISI: WOS:000349670900004 Codice identificativo SCOPUS: 2-s2.0-84938423531 | |
| Show it in Product Database (IRIS) |
| 2015 | |
| Articolo in rivista | |
| Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome MOLECULAR CYTOGENETICS. Vol. 8. Pag.96-102 ISSN:1755-8166. | |
| Genesio, R.; Fontana, P.; Mormile, A.; Casertano, A.; Falco, M.; Conti, A.; Franzese, A.; Mozzillo, E.; Nitsch, L.; Melis, D. | |
| Digital Object Identifier (DOI): 10.1186/s13039-015-0199-3 Codice identificativo ISI: WOS:000366974700001 Codice identificativo SCOPUS: 2-s2.0-84950269861 | |
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| 2015 | |
| Articolo in rivista | |
| Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 23. Pag.1460-1461 ISSN:1018-4813. | |
| Santoro, C.; Maietta, A.; Giugliano, T.; Melis, D.; Perrotta, S.; Nigro, V.; Piluso, G. | |
| Digital Object Identifier (DOI): 10.1038/ejhg.2015.93 Codice identificativo ISI: WOS:000362916200007 Codice identificativo SCOPUS: 2-s2.0-84944353423 | |
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| 2015 | |
| Articolo in rivista | |
| Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome MOLECULAR CYTOGENETICS. Vol. 8. Pag.1-6 ISSN:1755-8166. | |
| Genesio, Rita; Fontana, Paolo; Mormile, Angela; Casertano, Alberto; Falco, Mariateresa; Conti, Anna; Franzese, Adriana; Mozzillo, Enza; Nitsch, Lucio; Melis, Daniela | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/s13039-015-0199-3 Codice identificativo ISI: WOS:000366974700001 Codice identificativo SCOPUS: 2-s2.0-84950269861 | |
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| 2015 | |
| Articolo in rivista | |
| Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation ORPHANET JOURNAL OF RARE DISEASES. Vol. 10. Pag.1-10 ISSN:1750-1172. | |
| Melis, Daniela; Rossi, A; Pivonello, R; Salerno, Mariacarolina; Balivo, Francesca; Spadarella, S; Muscogiuri, G; Casa, Rd; Formisano, Pietro; Andria, Generoso; Colao, Annamaria; Parenti, Giancarlo | |
| Digital Object Identifier (DOI): 10.1186/s13023-015-0301-2 Codice identificativo ISI: WOS:000358565800001 Codice identificativo SCOPUS: 2-s2.0-84938224673 | |
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| 2015 | |
| Articolo in rivista | |
| Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: Possible role of microsomal glucose 6-phosphate accumulation ORPHANET JOURNAL OF RARE DISEASES. Vol. 10. Pag.91-98 ISSN:1750-1172. | |
| Melis, D.; Rossi, A.; Pivonello, R.; Salerno, M.; Balivo, F.; Spadarella, S.; Muscogiuri, G.; Casa, R. D.; Formisano, P.; Andria, G.; Colao, A.; Parenti, G. | |
| Digital Object Identifier (DOI): 10.1186/s13023-015-0301-2 Codice identificativo ISI: WOS:000358565800001 Codice identificativo SCOPUS: 2-s2.0-84938224673 | |
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| 2015 | |
| Articolo in rivista | |
| Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 23. Pag.292-301 ISSN:1018-4813. | |
| 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. | |
| Digital Object Identifier (DOI): 10.1038/ejhg.2014.95 Codice identificativo ISI: WOS:000349670900004 Codice identificativo SCOPUS: 2-s2.0-84938423531 | |
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| 2015 | |
| Articolo in rivista | |
| Progression of renal damage in glycogen storage diseasetype I is associated to hyperlipidemia: a multicentre prospective Italian study. THE JOURNAL OF PEDIATRICS. Pag.1079-1082 ISSN:0022-3476. | |
| Melis, D; Cozzolino, M; Minopoli, G; Balivo, F; Parini, R; Rigoldi, M; Paci, S; Dionisi-Vici, C; Burlina, A; Andria, G; Parenti, G | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1016/j.jpeds.2014.12.015 Codice identificativo ISI: WOS:000353385700053 Codice identificativo SCOPUS: 2-s2.0-84933277190 | |
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| 2014 | |
| Articolo in rivista | |
| Loeys-Dietz syndrome type 4, caused by chromothripsis,involving the TGFB2 gene GENE. Vol. 538. Pag.69-73-4 ISSN:0378-1119. | |
| : Fontana, P; Genesio, R; Casertano, A; Cappuccio, G; Mormile, A; Nitsch, L; IolasconA, ; Andria, G; Melis, D | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1016/j.gene.2014.01.017 Codice identificativo ISI: WOS:000332815600011 Codice identificativo SCOPUS: 2-s2.0-84893715195 | |
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| 2014 | |
| Articolo in rivista | |
| Molecular analysis,pathogenic mechanisms, and readthrough therapy on a large cohort of Kabukisyndrome patients. HUMAN MUTATION. Vol. 35. Pag.841-850 ISSN:1059-7794. | |
| Micale, L; Augello, B; Maffeo, C; Selicorni, A; Zucchetti, F; Fusco, C; De, NittisP; Pellico, Mt; Mandriani, B; Fischetto, R; Boccone, L; Silengo, M; Biamino, E; Perria, C; Sotgiu, S; Serra, G; Lapi, E; Neri, M; Ferlini, A; Cavaliere, Ml; Chiurazzi, P; Monica, Md; Scarano, G; Faravelli, F; Ferrari, P; Mazzanti, L; Pilotta, A; PatricelliMG, ; Bedeschi, Mf; Benedicenti, F; Prontera, P; Toschi, B; Salviati, L; Melis, D; DiBattista, E; Vancini, A; Garavelli, L; Zelante, L; Merla, G. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1002/humu.22547. Codice identificativo ISI: WOS:000337705500010 Codice identificativo SCOPUS: 2-s2.0-84902074147 | |
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161952Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.
| 2014 | |
| Articolo in rivista | |
| Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. POLISH JOURNAL OF RADIOLOGY. Vol. 78. Pag.83-87 ISSN:1733-134X. | |
| D'Amico, A; Melis, D; D'Arco, F; Di Paolo, N; Carotenuto, B; D'Anna, G; Russo, C; Boemio, P; Brunetti, A. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.12659/PJR.889531 Codice identificativo SCOPUS: 2-s2.0-84887859582 | |
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| 2014 | |
| Articolo in rivista | |
| Identification of two novel splice-site mutations in CHD7 gene in two patientswith classical and atypical CHARGE syndrome phenotype CLINICAL GENETICS. Vol. 85. Pag.201-202 ISSN:0009-9163. | |
| Cappuccio, G; Ginocchio, Vm; Maffè, A; Ungari, S; Andria, G; Melis, D | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1111/cge.12115 Codice identificativo ISI: WOS:000329511700013 Codice identificativo SCOPUS: 2-s2.0-84892486543 | |
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| 2014 | |
| Articolo in rivista | |
| Bronchial isomerism in a Kabuki syndrome patientwith a novel mutation in MLL2 gene. BMC MEDICAL GENETICS. Vol. 15. Pag.1-5 ISSN:1471-2350. | |
| Cappuccio, G; Rossi, A; Fontana, P; Acampora, E; Avolio, V; Merla, G; Zelante, L; Secinaro, A; Andria, G; Melis, D | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/1471-2350-15-15. Codice identificativo ISI: WOS:000334530300001 Codice identificativo SCOPUS: 2-s2.0-84892922411 | |
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| 2014 | |
| Articolo in rivista | |
| Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review LA RADIOLOGIA MEDICA. Vol. 119. Pag.415-421 ISSN:0033-8362. | |
| F., D’Arco; A., D’Amico; Caranci, Ferdinando; N., Di Paolo; Melis, Daniela; Brunetti, Arturo | |
| Digital Object Identifier (DOI): 10.1007/s11547-013-0358-8 Codice identificativo ISI: WOS:000336973700007 Codice identificativo SCOPUS: 2-s2.0-84902192072 | |
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| 2014 | |
| Articolo in rivista | |
| Effect of long-term GH treatment in a patient with CHARGE association THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 40. Pag.1-4 ISSN:1824-7288. | |
| Esposito, A; Tufano, M; Di Donato, I; Rezzuto, M; Improda, Nicola; Melis, Daniela; Salerno, Mariacarolina | |
| Digital Object Identifier (DOI): 10.1186/1824-7288-40-51 Codice identificativo ISI: WOS:000339284700001 Codice identificativo SCOPUS: 2-s2.0-84904820657 | |
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| 2014 | |
| Articolo in rivista | |
| Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 40. Pag.1-5 ISSN:1824-7288. | |
| Melis, Daniela; Della Casa, Roberto; Balivo, Francesca; Minopoli, Giorgia; Rossi, Alessandro; Salerno, Mariacarolina; Andria, Generoso; Parenti, Giancarlo | |
| Digital Object Identifier (DOI): 10.1186/1824-7288-40-30 Codice identificativo ISI: WOS:000334960200001 Codice identificativo SCOPUS: 2-s2.0-84898009085 | |
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| 2014 | |
| Articolo in rivista | |
| Fertility and pregnancy in women affected by glycogen storagedisease type I, results of a multicenter Italian study JOURNAL OF INHERITED METABOLIC DISEASE. Vol. 36. Pag.83-89-7 ISSN:0141-8955. | |
| Sechi, A; Deroma, L; Lapolla, A; Paci, S; Melis, D; Burlina, A; Carubbi, F; Rigoldi, M; Di Rocco, M | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1007/s10545-012-9490-1 Codice identificativo ISI: WOS:000313494500011 Codice identificativo SCOPUS: 2-s2.0-84872609760 | |
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| 2014 | |
| Articolo in rivista | |
| SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 22. Pag.988-994 ISSN:1018-4813. | |
| Piccolo, P; Mithbaokar, P; Sabatino, V; Tolmie, J; Melis, D; Schiaffino, Mc; Filocamo, M; Andria, G; Brunetti-Pierri, N. | |
| Digital Object Identifier (DOI): 10.1038/ejhg.2013.283 Codice identificativo ISI: WOS:000339328100009 Codice identificativo SCOPUS: 2-s2.0-84904675530 | |
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| 2014 | |
| Articolo in rivista | |
| Mutations in ZBTB20 cause Primrose syndrome. NATURE GENETICS. Vol. 46. Pag.815-817 ISSN:1061-4036. | |
| Cordeddu, V; Redeker, B; Stellacci, E; Jongejan, A; Fragale, A; Bradley, Te; Anselmi, M; Ciolfi, A; Cecchetti, S; Muto, V; Bernardini, L; Azage, M; Carvalho, Dr; Espay, Aj; Male, A; Molin, Am; Posmyk, R; Battisti, C; Casertano, A; Melis, D; van Kampen, A; Baas, F; Mannens, Mm; Bocchinfuso, G; Stella, L; Tartaglia, M; Hennekam, Rc | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1038/ng.3035. Codice identificativo ISI: WOS:000339704400008 Codice identificativo SCOPUS: 2-s2.0-84905569324 | |
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| 2014 | |
| Articolo in rivista | |
| Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 164A. Pag.753-759 ISSN:1552-4825. | |
| Cappuccio, Gerarda; Genesio, R; Ronga, V; Casertano, A; Izzo, Antonella; Riccio, Mp; Bravaccio, Carmela; Salerno, Mariacarolina; Nitsch, Lucio; Andria, Generoso; Melis, Daniela | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.36326 Codice identificativo ISI: WOS:000331978700024 Codice identificativo SCOPUS: 2-s2.0-84894288751 | |
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| 2014 | |
| Articolo in rivista | |
| Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b HORMONE RESEARCH IN PAEDIATRICS. Vol. 81. Pag.55-62 ISSN:1663-2818. | |
| Melis, Daniela; Pivonello, Rosario; Cozzolino, M; DELLA CASA, Roberto; Balivo, Francesca; DEL PUENTE, Antonio; Dionisi Vici, C; Cotugno, G; Zuppaldi, C; Rigoldi, M; Parini, R; Colao, Annamaria; Andria, Generoso; Parenti, Giancarlo | |
| Digital Object Identifier (DOI): 10.1159/000351022 Codice identificativo ISI: WOS:000333121100009 Codice identificativo SCOPUS: 2-s2.0-84897023533 | |
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| 2014 | |
| Articolo in rivista | |
| Cornelia deLange individuals with new and recurrent SMC1A mutations enhance delineation ofmutation repertoire and phenotypic spectrum AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 161A. Pag.2909-2919 ISSN:1552-4825. | |
| Gervasini, C; Russo, S; Cereda, A; Parenti, I; Masciadri, M; Azzollini, J; Melis, D; Aravena, T; Doray, B; Ferrarini, A; Garavelli, L; Selicorni, A; Larizza, L | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.36252 Codice identificativo ISI: WOS:000328137500029 Codice identificativo SCOPUS: 2-s2.0-84886314760 | |
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| 2013 | |
| Articolo in rivista | |
| The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature MINERVA ENDOCRINOLOGICA. Pag.113-122 ISSN:0391-1977. | |
| Galdiero, M; Vitale, P; Simeoli, C; Afeltra, L; Melis, D; Alviggi, C; Cariati, F; Lo Calzo, F; Di Somma, C; Colao, A; Pivonello, R. | |
| Codice identificativo ISI: WOS:000317705000009 Codice identificativo SCOPUS: 2-s2.0-84876551210 | |
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| 2013 | |
| Articolo in rivista | |
| Good cognitive performances in a child with Prader-Willi syndrome THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 39. Pag.1-4 ISSN:1824-7288. | |
| Nugnes, Rosa; Zito, E; Mozzillo, E; Camarca, Me; Riccio, Mp; Terrone, G; Melis, D; Bravaccio, C; Franzese, A. | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/1824-7288-39-74 Codice identificativo ISI: WOS:000329224500002 Codice identificativo SCOPUS: 2-s2.0-84887558364 | |
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| 2012 | |
| Articolo in rivista | |
| Cardiac valve disease: an unreported feature in Ehlers Danlos syndromearthrocalasia type? THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 38. Pag.65-68 ISSN:1720-8424. | |
| Melis, D; Cappuccio, G; Ginocchio, Vm; Minopoli, G; Valli, M; Corradi, M; Andria, G | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/1824-7288-38-65 Codice identificativo ISI: WOS:000315090100001 Codice identificativo SCOPUS: 2-s2.0-84872372716 | |
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| 2012 | |
| Articolo in rivista | |
| Nephrological findingsand genotype-phenotype correlation in Beckwith-Wiedemann syndrome PEDIATRIC NEPHROLOGY. Vol. 27. Pag.397-406 ISSN:0931-041X. | |
| Mussa, A; Peruzzi, L; Chiesa, N; De Crescenzo, A; Russo, S; Melis, D; Tarani, L; Baldassarre, G; Larizza, L; Riccio, A; Silengo, M; Ferrero, Gb | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1007/s00467-011-2009-4 Codice identificativo ISI: WOS:000299506100009 Codice identificativo SCOPUS: 2-s2.0-84856866623 | |
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162036A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
| 2012 | |
| Articolo in rivista | |
| A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome AMERICAN JOURNAL OF HUMAN GENETICS. Vol. 90. Pag.161-169-9 ISSN:0002-9297. | |
| 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 | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1016/j.ajhg.2011.12.011 Codice identificativo ISI: WOS:000299409100017 Codice identificativo SCOPUS: 2-s2.0-84855858089 | |
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161983Loss of function of the E3ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
| 2012 | |
| Articolo in rivista | |
| Loss of function of the E3ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome JOURNAL OF MEDICAL GENETICS. Vol. 50. Pag.493-499 ISSN:0022-2593. | |
| Flex, E; Ciolfi, A; Caputo, V; Fodale, V; Leoni, C; Melis, D; Bedeschi, Mf; MazzantiL, ; Pizzuti, A; Tartaglia, M; Zampino, G | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1136/jmedgenet-2012-101405 Codice identificativo ISI: WOS:000322123200001 Codice identificativo SCOPUS: 2-s2.0-84883199248 | |
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| 2012 | |
| Articolo in rivista | |
| Noonan-like syndrome with loose anagen hair associatedwith growth hormone insensitivity and atypical neurological manifestations AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 158A. Pag.856-860-5 ISSN:1552-4825. | |
| Capalbo, D; Melis, Daniela; De Martino, L; Palamaro, L; Riccomagno, S; Bona, G; Cordeddu, V; Pignata, C; Salerno, M | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.35234 Codice identificativo ISI: WOS:000302544200026 Codice identificativo SCOPUS: 2-s2.0-84858999417 | |
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| 2011 | |
| Articolo in rivista | |
| Mental retardation, congenital heart malformation, and myelodysplasiain a patient with a complex chromosomal rearrangement involving the criticalregion 21q22 AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. Vol. 155A. Pag.1697-1705 ISSN:1552-4825. | |
| Melis, D; Genesio, R; Cappuccio, G; Mariaginocchio, V; Casa, Rd; Menna, G; BuffardiS, ; Poggi, V; Leszle, A; Imperati, F; Carella, M; Izzo, A; Del Giudice, E; Nitsch, L; Andria, G | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1002/ajmg.a.33976 Codice identificativo ISI: WOS:000291944700031 Codice identificativo SCOPUS: 2-s2.0-79959512112 | |
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| 2011 | |
| Articolo in rivista | |
| A case ofKlinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa EATING AND WEIGHT DISORDERS. Vol. 6. Pag.69-71 ISSN:1124-4909. | |
| Gritti, A; Salerno, F; Pisano, S; Formicola, F; Melis, D; Franzese, A | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1007/BF03327525 Codice identificativo ISI: WOS:000293207800012 Codice identificativo SCOPUS: 2-s2.0-79960154410 | |
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| 2011 | |
| Articolo in rivista | |
| Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients ORPHANET JOURNAL OF RARE DISEASES. Vol. 6. Pag.1-8 ISSN:1750-1172. | |
| Micale, L; Augello, B; Fusco, C; Selicorni, A; Loviglio, Mn; Silengo, Mc; ReymondA, ; Gumiero, B; Zucchetti, F; D'Addetta, Ev; Belligni, E; Calcagnì, A; Digilio, Mc; Dallapiccola, B; Faravelli, F; Forzano, F; Accadia, M; Bonfante, A; Clementi, M; DaolioC, ; Douzgou, S; Ferrari, P; Fischetto, R; Garavelli, L; Lapi, E; Mattina, T; Melis, D; Patricelli, Mg; Priolo, M; Prontera, P; Renieri, A; Mencarelli, Ma; Scarano, G; dellaMonica, M; Toschi, B; Turolla, L; Vancini, A; Zatterale, A; Gabrielli, O; Zelante, L; Merla, G | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1186/1750-1172-6-38 Codice identificativo ISI: WOS:000292963700001 Codice identificativo SCOPUS: 2-s2.0-79958047953 | |
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| 2011 | |
| Articolo in rivista | |
| Variegated silencing throughepigenetic modifications of a large Xq region in a case of balanced X;2translocation with Incontinentia Pigmenti-like phenotype EPIGENETICS. Vol. 6. Pag.1242-1247 ISSN:1559-2308. | |
| Genesio, R; Melis, D; Gatto, S; Izzo, A; Ronga, V; Cappuccio, G; Lanzo, A; Andria, G; D'Esposito, M; Matarazzo, Mr; Conti, A; Nitsch, L | |
| Digital Object Identifier (DOI): 10.4161/epi.6.10.17698 Codice identificativo SCOPUS: 2-s2.0-80053441016 | |
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161999Molecular and clinical heterogeneity inCLCN7-dependent osteopetrosis: report of 20 novel mutations
| 2010 | |
| Articolo in rivista | |
| Molecular and clinical heterogeneity inCLCN7-dependent osteopetrosis: report of 20 novel mutations HUMAN MUTATION. Vol. 31. Pag.E1071-1080 ISSN:1059-7794. | |
| Pangrazio, A; Pusch, M; Caldana, E; Frattini, A; Lanino, E; Tamhankar, Pm; PhadkeS, ; Lopez, Ag; Orchard, P; Mihci, E; Abinun, M; Wright, M; Vettenranta, K; Bariae, I; Melis, D; Tezcan, I; Baumann, C; Locatelli, F; Zecca, M; Horwitz, E; Mansour, Ls; VanRoij, M; Vezzoni, P; Villa, A; Sobacchi, C | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1002/humu.21167 Codice identificativo ISI: WOS:000279981300005 Codice identificativo SCOPUS: 2-s2.0-74049126057 | |
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| 2010 | |
| Articolo in rivista | |
| Infantile systemic hyalinosis: an atypical milder form EUROPEAN JOURNAL OF DERMATOLOGY. Vol. 20. Pag.632-633 ISSN:1167-1122. | |
| Alessio, M; Carlomagno, R; Battagliese, A; Boemio, P; Vitiello, P; Natella, V; Melis, D. | |
| Codice identificativo ISI: WOS:000281769600019 Codice identificativo SCOPUS: 2-s2.0-77956917013 | |
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| 2008 | |
| Articolo in rivista | |
| Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders? JOURNAL OF INHERITED METABOLIC DISEASE. Vol. 21. Pag.30-33 ISSN:0141-8955. | |
| Melis, D; Balivo, F; Della Casa, R; Romano, A; Taurisano, R; Capaldo, B; Riccardi, G; Monsurrò, Mr; Parenti, G; Andria, G | |
| Codice identificativo ISI: WOS:000208155400008 Codice identificativo SCOPUS: 2-s2.0-84855612053 | |
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| 2008 | |
| Articolo in rivista | |
| Type A niemann-pick disease.Description of three cases with delayed myelination THE NEURORADIOLOGY JOURNAL. Vol. 21. Pag.309-315 ISSN:1971-4009. | |
| D'Amico, A; Sibilio, M; Caranci, F; Bartiromo, F; Taurisano, R; Balivo, F; Melis, D; Parenti, G; Cirillo, S; Elefante, R; Brunetti, A | |
| Digital Object Identifier (DOI): 10.1177/197140090802100303 Codice identificativo SCOPUS: 2-s2.0-45549109401 | |
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| 2007 | |
| Articolo in rivista | |
| Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I THE JOURNAL OF PEDIATRICS. Vol. 150. Pag.300-305 ISSN:0022-3476. | |
| Melis, D; Pivonello, R; Parenti, G; R., DELLA CASA; Salerno, M; Lombardi, G; Sebastio, G; Colao, A; Andria, G | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1016/j.jpeds.2006.11.056 Codice identificativo ISI: WOS:000244629700024 Codice identificativo SCOPUS: 2-s2.0-33847278309 | |
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| 2007 | |
| Articolo in rivista | |
| Combination of monosomy 5p15.3 and trisomy 9p23: clinical and cytogenetic definition of both syndromes THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 33:. Pag.107-111 ISSN:1720-8424. | |
| Melis, D; F, Majo; Vm, Ginocchio; D De, Brasi; L, Nitsch; A, Conti; R, Genesio; F, Fabbrini; P, Tedeschi; R Della, Casa | |
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| 2007 | |
| Articolo in rivista | |
| WAGR Syndrome: The importance of diagnosis and follow-up THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 33. Pag.22-23 ISSN:1720-8424. | |
| Ginocchio, Vm; De Brasi, D; Melis, D; D'Agostino, A; Della Casa, R | |
| Codice identificativo SCOPUS: 2-s2.0-34547130072 | |
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| 2007 | |
| Articolo in rivista | |
| WAGR syndrome: importance of diagnosis and follow-up THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 33. Pag.22-23 ISSN:1720-8424. | |
| Vm, Ginocchio; D De, Brasi; Melis, D; A, D’Agostino; R Della, Casa | |
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| 2007 | |
| Articolo in rivista | |
| Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions THE ITALIAN JOURNAL OF PEDIATRICS. Vol. 33. Pag.107-111 ISSN:1720-8424. | |
| Melis, D.; Majo, F.; Ginocchio, V. M.; De Brasi, D.; Nitsch, L.; Conti, A.; Genesio, R.; Fabbrini, F.; Tedeschi, P.; Della Casa, R. | |
| Codice identificativo SCOPUS: 2-s2.0-34547400096 | |
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| 2006 | |
| Articolo in rivista | |
| Mosaic13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins CLINICAL DYSMORPHOLOGY. Vol. 15. Pag.13-18 ISSN:0962-8827. | |
| Melis, D; Pia Sperandeo, M; Perone, L; Staiano, A; Andria, G; Sebastio, G | |
| Digital Object Identifier (DOI): 10.1097/01.mcd.0000181602.70629.67 Codice identificativo ISI: WOS:000234457900003 Codice identificativo SCOPUS: 2-s2.0-33646379143 | |
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| 2006 | |
| Articolo in rivista | |
| Hepatic and neuromuscularforms of glycogenosis type III: nine mutations in AGL HUMAN MUTATION. Vol. 27. Pag.600-601 ISSN:1059-7794. | |
| Lucchiari, S; Pagliarani, S; Salani, S; Filocamo, M; Di Rocco, M; Melis, D; Rodolico, C; Musumeci, O; Toscano, A; Bresolin, N; Comi, Gp | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1002/humu.9426 Codice identificativo SCOPUS: 2-s2.0-33745305424 | |
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| 2005 | |
| Articolo in rivista | |
| Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study CLINICAL ENDOCRINOLOGY. Vol. 63. Pag.19-25 ISSN:0300-0664. | |
| Melis, D; Parenti, G; Gatti, R; DELLA CASA, R.; Parini, R; Riva, E; Burlina, Ab; DIONISI-VICI, C; DI ROCCO, M; Furlan, F; Torcoletti, M; Papadia, F; Donati, A; Benigno, V; Andria, G | |
| Codice identificativo ISI: WOS:000229912800003 Codice identificativo SCOPUS: 2-s2.0-22044453413 | |
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| 2004 | |
| Articolo in rivista | |
| Brain damage in glycogen storage disease type I. JORNAL DE PEDIATRIA. Vol. 144. Pag.637-642 ISSN:0021-7557. | |
| 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 | |
| Versione online | |
| Digital Object Identifier (DOI): 10.1016/j.jpeds.2004.02.033 Codice identificativo ISI: WOS:000221408700024 Codice identificativo SCOPUS: 2-s2.0-2342550655 | |
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161992NPT4, a new microsomal phosphate transporter: mutation analysis in glycogenstorage disease type Ic
| 2004 | |
| Articolo in rivista | |
| NPT4, a new microsomal phosphate transporter: mutation analysis in glycogenstorage disease type Ic JOURNAL OF INHERITED METABOLIC DISEASE. Vol. 27. Pag.725-733 ISSN:0141-8955. | |
| Melis, D; Havelaar, Ac; Verbeek, E; Smit, Gp; Benedetti, A; Mancini, Gm; VerheijenF, | |
| Digital Object Identifier (DOI): 10.1023/B:BOLI.0000045755.89308.2f Codice identificativo ISI: WOS:000224702700002 Codice identificativo SCOPUS: 2-s2.0-7244223350 | |
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| 2004 | |
| Articolo in rivista | |
| Mutational analysis of the AGL gene: five novel mutations in GSD III patients HUMAN MUTATION. Vol. 22. Pag.337-337 ISSN:1059-7794. | |
| Lucchiari, S; Donati, Ma; Melis, D; Filocamo, M; Parini, R; Bresolin, N; Comi, Gp. | |
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| 2003 | |
| Abstract in rivista | |
| Frequent persistence of hepatic abnormalities in children with hereditary fructose intolerance (HFI) is not correlated to specific gene mutations. DIGESTIVE AND LIVER DISEASE. Vol. 35. Pag.S23-S23 ISSN:1590-8658. | |
| Grazia, Capuano; Parenti, G.; Mandato, Claudia; Lucariello, S.; Ciccimarra, E.; Melis, Daniela; Esposito, G.; Salvatore, F.; Andria, G.; Vajro, Pietro | |
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| 2003 | |
| Articolo in rivista | |
| Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib:two years' follow-up of patients with a wide spectrum of gastrointestinal signs ACTA PAEDIATRICA. Vol. 92. Pag.1415-1421 ISSN:0803-5253. | |
| Melis, D; Parenti, G; Della Casa, R; Sibilio, M; Berni Canani, R; Terrin, G; Cucchiara, S; Andria, G | |
| Codice identificativo ISI: WOS:000187845000013 Codice identificativo SCOPUS: 2-s2.0-1642575407 | |
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| 2002 | |
| Articolo in rivista | |
| Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area AMERICAN JOURNAL OF MEDICAL GENETICS. Vol. 109. Pag.183-190 ISSN:0148-7299. | |
| Lucchiari 1, S; Fogh, I; Prelle, A; Parini, R; Bresolin, N; Melis, D; Fiori, L; Scarlato, G; P Comi, G | |
| Digital Object Identifier (DOI): 10.1002/ajmg.10347 Codice identificativo ISI: WOS:000175283700004 Codice identificativo SCOPUS: 2-s2.0-0036569298 | |
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| 2002 | |
| Articolo in rivista | |
| Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on glycogen storage disease type I (ESGSDI) EUROPEAN JOURNAL OF PEDIATRICS. Vol. 161. Pag.20-34 ISSN:0340-6199. | |
| Rake, Jp; Visser, G; Labrune, ; Leonard, ; Ullrich, ; Smit, Gpa; Skladal, D; Endres, W; Sokal, E; Zeman, J; Labrune, Ph; Buhrdel, P; Ullrich, K; Wendel, U; Lee, P; Leonard, Jv; Szonyi, L; Gandullia, P; M di, Rocco; R, Gatti; Melis, D; G, Andria; S, Moses; J, Taybert; E, Pronincka; H, Ozen; A, Kocak | |
| Digital Object Identifier (DOI): 10.1007/s00431-002-0999-4 Codice identificativo ISI: WOS:000178904800004 | |
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161966Molecular characterisation of GSD III subjects and identification of six novelmutations in AGL
| 2002 | |
| Articolo in rivista | |
| Molecular characterisation of GSD III subjects and identification of six novelmutations in AGL HUMAN MUTATION. Vol. 20. Pag.480-480 ISSN:1059-7794. | |
| Lucchiari, S; Donati, Ma; Parini, R; Melis, D; Gatti, R; Bresolin, N; Scarlato, G; Comi, Gp. | |
| Codice identificativo ISI: WOS:000209544900013 Codice identificativo SCOPUS: 2-s2.0-18744419463 | |
| Show it in Product Database (IRIS) |
| 2002 | |
| Articolo in rivista | |
| Granulocyte colony-stimulating factor in glycogen storagedisease type 1b. Results of the European Studyon Glycogen Storage Disease Type 1 EUROPEAN JOURNAL OF PEDIATRICS. Vol. 161. Pag.S83–S87-5 ISSN:0340-6199. | |
| Gepke Visser Æ Jan Peter Rake Æ Philippe LabruneJames V. Leonard Æ Shimon Moses Æ Kurt UllrichUdo Wendel Æ Klaas H. Groenier Æ G. Peter A., Smit; W, Endres; D, Skladal; E, Sokal; J, Zeman; P, Labrune; P Bu¨, Hrdel; K, Ullrich; G Da¨, Ublin; U, Wendel; Jvleonard, ; P, Lee; G, Mieli-Vergani; P, Gandullia; R, Gatti; Mdi, Rocco; G, Andria; Melis, D; S, Moses; E, Pronicka; Dr, N Kocak; Dr, H O¨ zen | |
| Digital Object Identifier (DOI): 10.1007/s00431-002-1010-0 Codice identificativo ISI: WOS:000178904800015 Codice identificativo SCOPUS: 2-s2.0-0036390010 | |
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| 2002 | |
| Articolo in rivista | |
| Guidelines for management of glycogen storage disease type I –European Study on Glycogen Storage Disease Type I (ESGSD I) EUROPEAN JOURNAL OF PEDIATRICS. Vol. 161:. Pag.S112–S119-8 ISSN:0340-6199. | |
| Jan Peter Rake Æ Gepke Visser Æ Philippe LabruneJames V. Leonard Æ Kurt Ullrich Æ G. Peter A., Smit; ESGSD I., Membersofthe ESGSD I are: Austria (W Endres; D, Skladal; Innsbruck), ; Belgium (E, Sokal; Brussels), ; Czech Republic (J, Zeman; Prague), ; France (P, Labrune; Clamart), ; Germany (P Bu¨, Hrdel; Leipzig, ; KUllrich, ; Hamburg, ; G Da¨, Ublin; U, Wendel; Du¨, sseldorf); GreatBritain (P, Lee; Jv, Leonard; G, Mieli-Vergani; London), ; Hungary(L Szo¨, Nyi; Budapest), ; Italy (P, Gandullia; R, Gatti; M di, Rocco; Genoa, ; Melis, D; G, Andria; Naples), ; Israel (S, Moses; Beersheva), ; Poland (J, Taybert; E, Pronicka; Warsaw), ; The Netherlands, (JPRake; Gpa, Smit; G, Visser; Groningen), ; Turkey (H O¨, Zen; NKocak, ; Ankara), | |
| Digital Object Identifier (DOI): 10.1007/s00431-002-1016-7 Codice identificativo ISI: WOS:000178904800021 Codice identificativo SCOPUS: 2-s2.0-0036387478 | |
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| 2000 | |
| Articolo in rivista | |
| Genetic testing of metabolic disorders MINERVA BIOTECNOLOGICA. Vol. 12. Pag.65-69 ISSN:1120-4826. | |
| Andria, G.; Parenti, G.; Melis, D.; Sebastio, G. | |
| Codice identificativo ISI: WOS:000087986500001 Codice identificativo SCOPUS: 2-s2.0-0033947454 | |
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| 1999 | |
| Articolo in rivista | |
| Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c FEBS LETTERS. Vol. 459. Pag.255-258 ISSN:0014-5793. | |
| Galli 1, L; Orrico, A; Marcolongo, P; Fulceri, R; Burchell, A; Melis, D; Parini, R; Gatti, R; Lam, C; Benedetti, A; Sorrentino, V | |
| Digital Object Identifier (DOI): 10.1016/S0014-5793(99)01248-X Codice identificativo ISI: WOS:000083127600022 Codice identificativo SCOPUS: 2-s2.0-0032826812 | |
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| 1998 | |
| Abstract in rivista | |
| Interferon (IFN) treatment in pediatric chronic hepatitis B (CHB): a metanalysis HEPATOLOGY. Vol. 28. Pag.217A-217A ISSN:0270-9139. | |
| Vajro, Pietro; Manguso, F.; Silvestre, C.; Brancato, T.; Desilva, C.; Melis, D. | |
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| 1998 | |
| Abstract in rivista | |
| Long term results of 2b Interferon treatment with and without steroid priming in chronic viral hepatitis B in children ITALIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY. Vol. 30. Pag.A26-A26 ISSN:1125-8055. | |
| Vajro, Pietro; Fontanella, A.; Melis, D.; Cecere, G.; Brancato, T.; Spaziano, Mt | |
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| 1998 | |
| Articolo in rivista | |
| Unbalanced translocation with partial 6p trisomy and partial 11q monosomy: A case report RIVISTA ITALIANA DI PEDIATRIA. Vol. 24. Pag.1017-1020 ISSN:0392-5161. | |
| Sabbatino, M. S.; Melis, D.; Della, Casa; R., D'Agostino; A., Cascioli; M. C., Parenti | |
| Codice identificativo ISI: WOS:000078442700034 Codice identificativo SCOPUS: 2-s2.0-33746991671 | |
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| 1998 | |
| Articolo in rivista | |
| Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 JOURNAL OF MEDICAL GENETICS. Vol. 35. Pag.1047-1049 ISSN:0022-2593. | |
| Melis, D.; Perone, L.; Sperandeo, M. P.; Sabbatino, M. S.; Tuzzi, M. R.; Romano, A.; Parenti, G.; Andria, G. | |
| Digital Object Identifier (DOI): 10.1136/jmg.35.12.1047 Codice identificativo ISI: WOS:000077266400019 Codice identificativo SCOPUS: 2-s2.0-0031759342 | |
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