D'APICE, MARIA ROSARIA

D'APICE, MARIA ROSARIA  

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Data di pubblicazione Titolo Autore(i) Tipo File
1-gen-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
1-giu-2021 A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles Botta, A; Visconti, Vv; Fontana, L; Bisceglia, P; Bengala, M; Massa, R; Bagni, I; Cardani, R; Sangiuolo, F; Meola, G; Antonini, G; Petrucci, A; Pegoraro, E; D'Apice, Mr; Novelli, G Articolo su rivista
1-gen-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
1-gen-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
1-set-2021 Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture Grosso, V; Marcolungo, L; Maestri, S; Alfano, M; Lavezzari, D; Iadarola, B; Salviati, A; Mariotti, B; Botta, A; D'Apice, Mr; Novelli, G; Delledonne, M; Rossato, M Articolo su rivista
26-ago-2022 Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing Alfano, M; De Antoni, L; Centofanti, F; Visconti, Vv; Maestri, S; Degli Esposti, C; Massa, R; D'Apice, Mr; Novelli, G; Delledonne, M; Botta, A; Rossato, M Articolo su rivista
1-gen-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
1-gen-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
1-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
1-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, A; Azzolini, V; Grosso, E; Lattanzi, G; D'Apice, Mr; Masala, S; Maraldi, N; Sbraccia, P; Novelli, G Articolo su rivista
1-gen-2015 Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome? D'Apice, Mr; 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, Fc; Novelli, G; Pallone, F Articolo su rivista
1-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
1-gen-2002 Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population Borgiani, P; Vallo, L; D'Apice, Mr; Giardina, E; Pucci, S; Capon, F; Nistico', Sp; Chimenti, S; Pallone, F; Novelli, G Articolo su rivista
1-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
1-apr-2023 From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging Murdocca, M; Spitalieri, P; D'Apice, Mr; Novelli, G; Sangiuolo, F Articolo su rivista
1-gen-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
1-lug-2006 Gonadal mosaicism in hereditary angioedema Guarino, S; Perricone, C; Guarino, Md; Giardina, E; Gambardella, S; D'Apice, Mr; Bulli, C; Perricone, R; Novelli, G Articolo su rivista
14-giu-2023 In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array Visconti, Vv; Macrì, E; D’Apice, Mr; Centofanti, F; Massa, R; Novelli, G; Botta, A Articolo su rivista
1-gen-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
1-ago-2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C Novelli, G; Muchir, A; Sangiuolo, Fc; 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