D'APICE, MARIA ROSARIA
Dettaglio
D'APICE, MARIA ROSARIA
ex-Dipartimento di Medicina Interna
Pubblicazioni
Risultati 1 - 20 di 24 (tempo di esecuzione: 0.001 secondi).
Data di pubblicazione | Titolo | Autore(i) | Tipo | File | |
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1 | 2002 | 3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population | Vavassori, P; Borgiani, P; D'Apice, MR; De Negris, F; Del Vecchio Blanco, G; Monteleone, I; Biancone, L; Novelli, G; Pallone, E | Articolo su rivista | - |
2 | 2020 | Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients | Novelli, A; Biancolella, M; Borgiani, P; Cocciadiferro, D; Colona, VL; D'Apice, MR; Rogliani, P; Zaffina, S; Leonardis, F; Campana, A; Raponi, M; Andreoni, M; Grelli, S; Novelli, G | Articolo su rivista | riservati |
3 | 2018 | Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene | Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G | Articolo su rivista | - |
4 | 2015 | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene | Viggiano, E; Marabotti, A; Burlina, AP; Cazzorla, C; D'Apice, MR; Giordano, L; Fasan, I; Novelli, G; Facchiano, A; Burlina, AB | Articolo su rivista | - |
5 | lug-2015 | Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy | Ruggieri, A; Brancati, F; Zanotti, S; Maggi, L; Pasanisi, M; Saredi, S; Terracciano, C; Antozzi, C; D'Apice, MR; Sangiuolo, FC; Novelli, G; Marshall, C; Scherer, S; Morandi, L; Federici, L; Massa, R; Mora, M; Minassian, B | Articolo su rivista | Open Access |
6 | nov-2007 | Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype | Lombardi, F; Gullotta, F; Columbaro, M; Filareto, A; D'Adamo, M; Vielle, A; Guglielmi, V; Nardone, AM; Azzolini, V; Grosso, E; Lattanzi, G; D'Apice, MR; Masala, S; Maraldi, NM; Sbraccia, P; Novelli, G | Articolo su rivista | - |
7 | 2015 | Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? | D’Apice, M; Novelli, A; di Masi, A; Biancolella, M; Antoccia, A; Gullotta, F; Licata, N; Minella, D; Testa, B; Nardone, A; Palmieri, G; Calabrese, E; Biancone, L; Tanzarella, C; Frontali, M; Sangiuolo, F; Novelli, G; Pallone, F | Articolo su rivista | - |
8 | 2011 | The etiology of acute recurrent pancreatitis in children: A challenge for pediatricians | Lucidi, V; Alghisi, F; Dall'Oglio, L; D'Apice, Mr; Monti, L; De Angelis, P; Gambardella, S; Angioni, A; Novelli, G | Articolo su rivista | - |
9 | feb-2020 | European lipodystrophy registry: Background and structure | Von Schnurbein, J; Adams, C; Akinci, B; Ceccarini, G; D'Apice, MR; Gambineri, A; Hennekam, RCM; Jeru, I; Lattanzi, G; Miehle, K; Nagel, G; Novelli, G; Santini, F; Santos Silva, E; Savage, DB; Sbraccia, P; Schaaf, J; Sorkina, E; Tanteles, G; Vantyghem, M-; Vatier, C; Vigouroux, C; Vorona, E; Araujo-Vilar, D; Wabitsch, M | Articolo su rivista | Open Access |
10 | 2002 | Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population | Borgiani, P; Vallo, F; D'Apice, MR; Giardina, E; Pucci, S; Capon, F; Nisticò, SP; Chimenti, S; Pallone, F; Novelli, G. | Articolo su rivista | - |
11 | ott-2020 | Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients | Amati, F; Vancheri, C; Latini, A; Colona, VL; Grelli, S; D'Apice, MR; Balestrieri, E; Passarelli, C; Minutolo, A; Loddo, S; Di Lorenzo, A; Rogliani, P; Andreoni, M; Novelli, G | Articolo su rivista | Open Access |
12 | 2004 | Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays | Amati, F; Biancolella, M; D'Apice, MR; Gambardella, S; Mango, R; Sbraccia, P; D'Adamo, M; Margiotti, K; Nardone, A; Lewis, M; Novelli, G | Articolo su rivista | - |
13 | lug-2006 | Gonadal mosaicism in hereditary angioedema | Guarino, S; Perricone, C; Guarino, M; Giardina, E; Gambardella, S; Rosaria D'Apice, M; Bulli, C; Perricone, R; Novelli, G | Articolo su rivista | - |
14 | 2018 | Lamins and bone disorders: current understanding and perspectives | Gargiuli, C; Schena, E; Mattioli, E; Columbaro, M; D'Apice, MR; Novelli, G; Greggi, T; Lattanzi, G | Articolo su rivista | - |
15 | ago-2002 | Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C | Novelli, G; Muchir, A; Sangiuolo, F; Helbling-Leclerc, A; D'Apice, MR; Massart, C; Capon, F; Sbraccia, P; Federici, M; Lauro, R; Tudisco, C; Pallotta, R; Scarano, G; Dallapiccola, B; Merlini, L; Bonne, G | Articolo su rivista | - |
16 | 2018 | Mandibuloacral dysplasia: a premature ageing disease with aspects of physiological ageing | Cenni, V; D'Apice, MR; Garagnani, P; Columbaro, M; Novelli, G; Franceschi, C; Lattanzi, G | Articolo su rivista | - |
17 | 2015 | Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: Understanding the osteolytic process triggered by altered lamins | Evangelisti, C; Bernasconi, P; Cavalcante, P; Cappelletti, C; D'Apice, MR; Sbraccia, P; Novelli, G; Prencipe, S; Lemma, S; Baldini, N; Avnet, S; Squarzoni, S; Martelli, AM; Lattanzi, G | Articolo su rivista | - |
18 | 4-set-2016 | Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis | Longo, G; Russo, S; Novelli, G; Sangiuolo, F; D'Apice, MR | Articolo su rivista | - |
19 | 2002 | Mutational analysis of Peroxiredoxin IV: Exclusion of a positional candidate for multinodular goitre | Giardina, E; Capon, F; D'Apice, MR; Amati, F; Arturi, F; Filetti, S; Bonifazi, E; Pucci, S; Conte, C; Novelli, G | Articolo su rivista | - |
20 | 2018 | A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family | Maroofian, R; Murdocca, M; Rezaei-Delui, H; Nekooei, A; Mojarad, M; Sangiuolo, F; Novelli, G; Superti-Furga, A; D'Apice, Mr | Articolo su rivista | - |