D'APICE, MARIA ROSARIA
D'APICE, MARIA ROSARIA
3020insC mutation within the NOD2 gene in Crohn's disease: frequency and association with clinical pattern in an Italian population
2002-01-01 Vavassori, P; Borgiani, P; D'Apice, Mr; De Negris, F; DEL VECCHIO BLANCO, G; Monteleone, I; Biancone, L; Novelli, G; Pallone, E
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
2021-06-01 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
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family
2018-01-01 Maroofian, R; Murdocca, M; Rezaei-Delui, H; Nekooei, A; Mojarad, M; Sangiuolo, F; Novelli, G; Superti-Furga, A; D'Apice, Mr
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients
2020-01-01 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
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture
2021-09-01 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
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing
2022-08-26 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
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene
2018-01-01 Fiorillo, C; D'Apice, Mr; Trucco, F; Murdocca, M; Spitalieri, P; Assereto, S; Baratto, S; Morcaldi, G; Minetti, C; Sangiuolo, F; Novelli, G
Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype
2023-01-01 Marchionni, E; D'Apice, Mr; Lupo, V; Lattanzi, G; Mattioli, E; Lisignoli, G; Gabusi, E; Pepe, G; Helmer Citterich, M; Campione, E; Nardone, Am; Spitalieri, P; Pucci, N; Cocciadiferro, D; Picchi, E; Garaci, F; Novelli, A; Novelli, G
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
2015-01-01 Viggiano, E; Marabotti, A; Burlina, Ap; Cazzorla, C; D'Apice, Mr; Giordano, L; Fasan, I; Novelli, G; Facchiano, A; Burlina, Ab
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
2015-07-01 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
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype
2007-11-01 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
Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: A novel recognizable microdeletion syndrome?
2015-01-01 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
European lipodystrophy registry: background and structure
2020-02-01 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
Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population
2002-01-01 Borgiani, P; Vallo, L; D'Apice, Mr; Giardina, E; Pucci, S; Capon, F; Nistico', Sp; Chimenti, S; Pallone, F; Novelli, G
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patients
2020-10-01 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
From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging
2023-04-01 Murdocca, M; Spitalieri, P; D'Apice, Mr; Novelli, G; Sangiuolo, F
Gene expression profiling of fibroblasts from a human progeroid disease mandibuloacral dysplasia, MAD #248370 through cDNA microarrays
2004-01-01 Amati, F; Biancolella, M; D'Apice, Mr; Gambardella, S; Mango, R; Sbraccia, P; D'Adamo, M; Margiotti, K; Nardone, A; Lewis, M; Novelli, G
Gonadal mosaicism in hereditary angioedema
2006-07-01 Guarino, S; Perricone, C; Guarino, Md; Giardina, E; Gambardella, S; D'Apice, Mr; Bulli, C; Perricone, R; Novelli, G
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
2023-06-14 Visconti, Vv; Macrì, E; D’Apice, Mr; Centofanti, F; Massa, R; Novelli, G; Botta, A
Lamins and bone disorders: current understanding and perspectives
2018-01-01 Gargiuli, C; Schena, E; Mattioli, E; Columbaro, M; D'Apice, Mr; Novelli, G; Greggi, T; Lattanzi, G
| 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-2023 | Clinical and functional characterization of COL2A1 p.Gly444Ser variant: From a fetal phenotype to a previously undisclosed postnatal phenotype | Marchionni, E; D'Apice, Mr; Lupo, V; Lattanzi, G; Mattioli, E; Lisignoli, G; Gabusi, E; Pepe, G; Helmer Citterich, M; Campione, E; Nardone, Am; Spitalieri, P; Pucci, N; Cocciadiferro, D; Picchi, E; Garaci, F; Novelli, A; 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 |