MELIS, Daniela
MELIS, Daniela
Dipartimento di Medicina, Chirurgia e Odontoiatria “Scuola Medica Salernitana”/DIPMED
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
2016 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
A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa
2011 Gritti, A; Salerno, F; Pisano, S; Formicola, F; Melis, D; Franzese, A
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
2016 Russo, S; Calzari, L; Mussa, A; Mainini, E; Cassina, M; Di Candia, S; Clementi, M; Guzzetti, S; Tabano, S; Miozzo, M; Sirchia, S; Finelli, P; Prontera, P; Maitz, S; Sorge, G; Calcagno, A; Maghnie, M; Divizia, Mt; Melis, D; Manfredini, E; Ferrero, Gb; Pecile, V; Larizza, L.
A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
2016 Russo, S; Calzari, L; Mussa, A; Mainini, E; Cassina, M; Di Candia, S; Clementi, M; Guzzetti, S; Tabano, S; Miozzo, M; Sirchia, S; Finelli, P; Prontera, P; Maitz, S; Sorge, G; Calcagno, A; Maghnie, M; Divizia, Mt; Melis, D; Manfredini, E; Ferrero, Gb; Pecile, V; Larizza, L.
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment
2018 Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D.
A pilot clinical trial with losartan in Myhre syndrome
2021 Cappuccio, G.; Caiazza, M.; Roca, A.; Melis, D.; Iuliano, A.; Matyas, G.; Rubino, M.; Limongelli, G.; Brunetti-Pierri, N.
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
2012 Caputo, V; Cianetti, L; Niceta, M; Carta, C; Ciolfi, A; Bocchinfuso, G; Carrani, E; Dentici, Ml; Biamino, E; Belligni, E; Garavelli, L; Boccone, L; Melis, D; Andria, G; Gelb, Bd; Stella, L; Silengo, M; Dallapiccola, B; Tartaglia, M
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia
2024 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
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.
2014 D'Amico, A; Melis, D; D'Arco, F; Di Paolo, N; Carotenuto, B; D'Anna, G; Russo, C; Boemio, P; Brunetti, A.
Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome
2017 Casertano, A.; Fontana, P.; Hennekam, R. C.; Tartaglia, M.; Genesio, R.; Dieber, T. B.; Ortega, L.; Nitsch, L.; Melis, D.
Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1
2015 Santoro, C.; Maietta, A.; Giugliano, T.; Melis, D.; Perrotta, S.; Nigro, V.; Piluso, G.
Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases
2015 Verloes, A.; Di Donato, N.; Masliah-Planchon, J.; Jongmans, M.; Abdul-Raman, O. A.; Albrecht, B.; Allanson, J.; Brunner, H.; Bertola, D.; Chassaing, N.; David, A.; Devriendt, K.; Eftekhari, P.; Drouin-Garraud, V.; Faravelli, F.; Faivre, L.; Giuliano, F.; Guion Almeida, L.; Juncos, J.; Kempers, M.; Eker, H. K.; Lacombe, D.; Lin, A.; Mancini, G.; Melis, D.; Lourenco, C. M.; Siu, V. M.; Morin, G.; Nezarati, M.; Nowaczyk, M. J. M.; Ramer, J. C.; Osimani, S.; Philip, N.; Pierpont, M. E.; Procaccio, V.; Roseli, Z. -S.; Rossi, M.; Rusu, C.; Sznajer, Y.; Templin, L.; Uliana, V.; Klaus, M.; Van Bon, B.; Van Ravenswaaij, C.; Wainer, B.; Fry, A. E.; Rump, A.; Hoischen, A.; Drunat, S.; Riviere, J. -B.; Dobyns, W. B.; Pilz, D. T.
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
2015 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
Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
2022 Ferrara, U. P.; Tortora, C.; Rosano, C.; Assunto, A.; Rossi, A.; Pagano, S.; Falco, M.; Simeoli, C.; Ferrigno, R.; D'Amico, A.; Di Salvio, D.; Cangemi, G.; Pivonello, R.; Strisciuglio, P.; Melis, D.
Brain damage in glycogen storage disease type I.
2004 Melis, D.; Parenti, G.; Casa, R. D.; Romano, A.; DI SALLE, Francesco; Elefante, R.; Mansi, G.; Santoro, L.; Perretti, A.; Paludetto, R.; Sequino, L.; Andria, G.; Sibilio, Maurizio
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
2014 Cappuccio, G; Rossi, A; Fontana, P; Acampora, E; Avolio, V; Merla, G; Zelante, L; Secinaro, A; Andria, G; Melis, D
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
2012 Melis, D; Cappuccio, G; Ginocchio, Vm; Minopoli, G; Valli, M; Corradi, M; Andria, G
Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review
2014 F., D’Arco; A., D’Amico; Caranci, Ferdinando; N., Di Paolo; Melis, Daniela; Brunetti, Arturo
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
2019 Giugliano, Teresa; Santoro, Claudia; Torella, Annalaura; Del Vecchio Blanco, Francesca; Grandone, Anna; Elena Onore, Maria; Anna Beatrice Melone, Mariarosa; Straccia, Giulia; Melis, Daniela; Piccolo, Vincenzo; Limongelli, Giuseppe; Buono, Salvatore; Perrotta, Silverio; Nigro, Vincenzo; Piluso, Giulio
Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area
2002 Lucchiari 1, S; Fogh, I; Prelle, A; Parini, R; Bresolin, N; Melis, D; Fiori, L; Scarlato, G; P Comi, G
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome | 1-gen-2016 | 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 | |
| A case of Klinefelter syndrome, mosaicism (46,XY/47,XXY), associated with anorexia nervosa | 1-gen-2011 | Gritti, A; Salerno, F; Pisano, S; Formicola, F; Melis, D; Franzese, A | |
| A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes | 1-gen-2016 | Russo, S; Calzari, L; Mussa, A; Mainini, E; Cassina, M; Di Candia, S; Clementi, M; Guzzetti, S; Tabano, S; Miozzo, M; Sirchia, S; Finelli, P; Prontera, P; Maitz, S; Sorge, G; Calcagno, A; Maghnie, M; Divizia, Mt; Melis, D; Manfredini, E; Ferrero, Gb; Pecile, V; Larizza, L. | |
| A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. | 1-gen-2016 | Russo, S; Calzari, L; Mussa, A; Mainini, E; Cassina, M; Di Candia, S; Clementi, M; Guzzetti, S; Tabano, S; Miozzo, M; Sirchia, S; Finelli, P; Prontera, P; Maitz, S; Sorge, G; Calcagno, A; Maghnie, M; Divizia, Mt; Melis, D; Manfredini, E; Ferrero, Gb; Pecile, V; Larizza, L. | |
| A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment | 1-gen-2018 | Alessandrella, A.; Della Casa, R.; Alessio, M.; Puente Prieto, J.; Strisciuglio, P.; Melis, D. | |
| A pilot clinical trial with losartan in Myhre syndrome | 1-gen-2021 | Cappuccio, G.; Caiazza, M.; Roca, A.; Melis, D.; Iuliano, A.; Matyas, G.; Rubino, M.; Limongelli, G.; Brunetti-Pierri, N. | |
| A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome | 1-gen-2012 | Caputo, V; Cianetti, L; Niceta, M; Carta, C; Ciolfi, A; Bocchinfuso, G; Carrani, E; Dentici, Ml; Biamino, E; Belligni, E; Garavelli, L; Boccone, L; Melis, D; Andria, G; Gelb, Bd; Stella, L; Silengo, M; Dallapiccola, B; Tartaglia, M | |
| A specific serum lipid signature characterizes patients with glycogen storage disease type Ia | 1-gen-2024 | 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 | |
| Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. | 1-gen-2014 | D'Amico, A; Melis, D; D'Arco, F; Di Paolo, N; Carotenuto, B; D'Anna, G; Russo, C; Boemio, P; Brunetti, A. | |
| Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome | 1-gen-2017 | Casertano, A.; Fontana, P.; Hennekam, R. C.; Tartaglia, M.; Genesio, R.; Dieber, T. B.; Ortega, L.; Nitsch, L.; Melis, D. | |
| Arg 1809 substitution in neurofibromin: Further evidence of a genotype-phenotype correlation in neurofibromatosis type 1 | 1-gen-2015 | Santoro, C.; Maietta, A.; Giugliano, T.; Melis, D.; Perrotta, S.; Nigro, V.; Piluso, G. | |
| Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases | 1-gen-2015 | Verloes, A.; Di Donato, N.; Masliah-Planchon, J.; Jongmans, M.; Abdul-Raman, O. A.; Albrecht, B.; Allanson, J.; Brunner, H.; Bertola, D.; Chassaing, N.; David, A.; Devriendt, K.; Eftekhari, P.; Drouin-Garraud, V.; Faravelli, F.; Faivre, L.; Giuliano, F.; Guion Almeida, L.; Juncos, J.; Kempers, M.; Eker, H. K.; Lacombe, D.; Lin, A.; Mancini, G.; Melis, D.; Lourenco, C. M.; Siu, V. M.; Morin, G.; Nezarati, M.; Nowaczyk, M. J. M.; Ramer, J. C.; Osimani, S.; Philip, N.; Pierpont, M. E.; Procaccio, V.; Roseli, Z. -S.; Rossi, M.; Rusu, C.; Sznajer, Y.; Templin, L.; Uliana, V.; Klaus, M.; Van Bon, B.; Van Ravenswaaij, C.; Wainer, B.; Fry, A. E.; Rump, A.; Hoischen, A.; Drunat, S.; Riviere, J. -B.; Dobyns, W. B.; Pilz, D. T. | |
| Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. | 1-gen-2015 | Verloes, A; Di Donato, N; Masliah-Planchon, J; Jongmans, M; Abdul-Raman, 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 | |
| Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity | 1-gen-2022 | Ferrara, U. P.; Tortora, C.; Rosano, C.; Assunto, A.; Rossi, A.; Pagano, S.; Falco, M.; Simeoli, C.; Ferrigno, R.; D'Amico, A.; Di Salvio, D.; Cangemi, G.; Pivonello, R.; Strisciuglio, P.; Melis, D. | |
| Brain damage in glycogen storage disease type I. | 1-gen-2004 | Melis, D.; Parenti, G.; Casa, R. D.; Romano, A.; DI SALLE, Francesco; Elefante, R.; Mansi, G.; Santoro, L.; Perretti, A.; Paludetto, R.; Sequino, L.; Andria, G.; Sibilio, Maurizio | |
| Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. | 1-gen-2014 | Cappuccio, G; Rossi, A; Fontana, P; Acampora, E; Avolio, V; Merla, G; Zelante, L; Secinaro, A; Andria, G; Melis, D | |
| Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? | 1-gen-2012 | Melis, D; Cappuccio, G; Ginocchio, Vm; Minopoli, G; Valli, M; Corradi, M; Andria, G | |
| Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review | 1-gen-2014 | F., D’Arco; A., D’Amico; Caranci, Ferdinando; N., Di Paolo; Melis, Daniela; Brunetti, Arturo | |
| Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. | 1-gen-2019 | Giugliano, Teresa; Santoro, Claudia; Torella, Annalaura; Del Vecchio Blanco, Francesca; Grandone, Anna; Elena Onore, Maria; Anna Beatrice Melone, Mariarosa; Straccia, Giulia; Melis, Daniela; Piccolo, Vincenzo; Limongelli, Giuseppe; Buono, Salvatore; Perrotta, Silverio; Nigro, Vincenzo; Piluso, Giulio | |
| Clinical and genetic variability of glycogen storage disease type IIIa: Seven novel AGL gene mutations in the Mediterranean area | 1-gen-2002 | Lucchiari 1, S; Fogh, I; Prelle, A; Parini, R; Bresolin, N; Melis, D; Fiori, L; Scarlato, G; P Comi, G |