GIARDINA, EMILIANO
GIARDINA, EMILIANO
Dipartimento di Biomedicina e Prevenzione
"The Linosa Study": Epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate
2009-01-01 Bellia, A; Giardina, E; Lauro, D; Tesauro, M; Di Fede, G; Cusumano, G; Federici, M; Rini, G; Novelli, G; Lauro, R; Sbraccia, P
A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01
2010-10-01 Giardina, E; Stocchi, L; Foti Cuzzola, V; Zampatti, S; Gambardella, S; Patrizi, M; Bramanti, P; Pirazzoli, A; Novelli, G
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
2010-11-01 Strange, A; Capon, F; Spencer, C; Knight, J; Weale, M; Allen, M; Barton, A; Band, G; Bellenguez, C; Bergboer, J; Blackwell, J; Bramon, E; Bumpstead, S; Casas, J; Cork, M; Corvin, A; Deloukas, P; Dilthey, A; Duncanson, A; Edkins, S; Estivill, X; Fitzgerald, O; Freeman, C; Giardina, E; Gray, E; Hofer, A; Hüffmeier, U; Hunt, S; Irvine, A; Jankowski, J; Kirby, B; Langford, C; Lascorz, J; Leman, J; Leslie, S; Mallbris, L; Markus, H; Mathew, C; Mclean, W; Mcmanus, R; Mössner, R; Moutsianas, L; Naluai, A; Nestle, F; Novelli, G; Onoufriadis, A; Palmer, C; Perricone, C; Pirinen, M; Plomin, R; Potter, S; Pujol, R; Rautanen, A; Riveira Munoz, E; Ryan, A; Salmhofer, W; Samuelsson, L; Sawcer, S; Schalkwijk, J; Smith, C; Ståhle, M; Su, Z; Tazi Ahnini, R; Traupe, H; Viswanathan, A; Warren, R; Weger, W; Wolk, K; Wood, N; Worthington, J; Young, H; Zeeuwen, P; Hayday, A; Burden, A; Griffiths, C; Kere, J; Reis, A; Mcvean, G; Evans, D; Brown, M; Barker, J; Peltonen, L; Donnelly, P; Trembath, R
A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers
2021-05-01 Campopiano, R; Femiano, C; Chiaravalloti, M; Ferese, R; Centonze, D; Buttari, F; Zampatti, S; Fanelli, M; Amatori, S; D'Alessio, C; Giardina, E; Fornai, F; Biagioni, F; Storto, M; Gambardella, S
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2
2004-01-01 Bonifazi, E; Vallo, L; Giardina, E; Botta, A; Novelli, G
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15
2008-12-01 Giardina, E; Peconi, C; Cascella, R; Sinibaldi, C; Nardone, A; Novelli, G
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7
2009-06-01 Giardina, E; Peconi, C; Cascella, R; Sinibaldi, C; Foti Cuzzola, V; Nardone, A; Bramanti, P; Novelli, G
A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
2009-01-01 Concolino, P; Mello, E; Minucci, A; Giardina, E; Zuppi, C; Toscano, V; Capoluongo, E
A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)
2016-01-01 Ferese, R; Zampatti, S; Griguoli, A; Fornai, F; Giardina, E; Barrano, G; Albano, V; Campopiano, R; Scala, S; Novelli, G; Gambardella, S
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
2020-01-01 Campopiano, R; Ferese, R; Buttari, F; Femiano, C; Centonze, D; Fornai, F; Biagioni, F; Chiaravalloti, Ma; Magnani, M; Giardina, E; Ruzzo, A; Gambardella, S
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset
2020-06-29 Campopiano, R; Ferese, R; Zampatti, S; Giardina, E; Biagioni, F; Colonnese, C; Centonze, D; Storto, M; Buttari, F; Fraviga, E; Broccoli, V; Fanelli, M; Fornai, F; Gambardella, S
A Pharmacogenetics Study in Mozambican Patients Treated with Nevirapine: Full Resequencing of TRAF3IP2 Gene Shows a Novel Association with SJS/TEN Susceptibility
2015-03-12 Ciccacci, C; Rufini, S; Mancinelli, S; Buonomo, E; Giardina, E; Scarcella, P; Marazzi, M; Novelli, G; Palombi, L; Borgiani, P
Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis
2014-01-01 Terrinoni, A; Giardina, E; Pertusi, G; Cascella, R; Serra, V; Bornacina, C; Palombo, R; Tiberio, R; Gattoni, M; Novelli, G; Annicchiarico Petruzzelli, M; Melino, G; Colombo, E
Age-related macular degeneration: insights into inflammatory genes
2014-01-01 Cascella, R; Ragazzo, M; Strafella, C; Missiroli, F; Borgiani, P; Angelucci, F; Marsella, Lt; Cusumano, A; Novelli, G; Ricci, F; Giardina, E
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications
2020-01-01 Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R
Application of precision medicine in neurodegenerative diseases
2018-01-01 Strafella, C; Caputo, V; Galota, Mr; Zampatti, S; Marella, G; Mauriello, S; Cascella, R; Giardina, E
Assessing individual risk for AMD with genetic counseling, family history, and genetic testing
2018-01-01 Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, Lt; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E
Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients
2013-05-01 Lepre, T; Cascella, R; Ragazzo, M; Galli, E; Novelli, G; Giardina, E
Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction.
2003-01-01 Mango, R; Clementi, F; Borgiani, P; Forleo, G; Federici, M; Contino, G; Giardina, E; Garza, L; Fahdi, I; Lauro, R; Mehta, J; Novelli, G; Romeo, F
Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations.
2019-06-04 Strafella, C; Caputo, V; Minozzi, G; Milano, F; Arcangeli, M; Sobhy, N; Abdelmaksood, R; Hashad, D; Vakirlis, E; Novelli, G; Cascella, R; Giardina, E
| Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
|---|---|---|---|---|
| 1-gen-2009 | "The Linosa Study": Epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate | Bellia, A; Giardina, E; Lauro, D; Tesauro, M; Di Fede, G; Cusumano, G; Federici, M; Rini, G; Novelli, G; Lauro, R; Sbraccia, P | Articolo su rivista | |
| 1-ott-2010 | A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01 | Giardina, E; Stocchi, L; Foti Cuzzola, V; Zampatti, S; Gambardella, S; Patrizi, M; Bramanti, P; Pirazzoli, A; Novelli, G | Articolo su rivista | |
| 1-nov-2010 | A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 | Strange, A; Capon, F; Spencer, C; Knight, J; Weale, M; Allen, M; Barton, A; Band, G; Bellenguez, C; Bergboer, J; Blackwell, J; Bramon, E; Bumpstead, S; Casas, J; Cork, M; Corvin, A; Deloukas, P; Dilthey, A; Duncanson, A; Edkins, S; Estivill, X; Fitzgerald, O; Freeman, C; Giardina, E; Gray, E; Hofer, A; Hüffmeier, U; Hunt, S; Irvine, A; Jankowski, J; Kirby, B; Langford, C; Lascorz, J; Leman, J; Leslie, S; Mallbris, L; Markus, H; Mathew, C; Mclean, W; Mcmanus, R; Mössner, R; Moutsianas, L; Naluai, A; Nestle, F; Novelli, G; Onoufriadis, A; Palmer, C; Perricone, C; Pirinen, M; Plomin, R; Potter, S; Pujol, R; Rautanen, A; Riveira Munoz, E; Ryan, A; Salmhofer, W; Samuelsson, L; Sawcer, S; Schalkwijk, J; Smith, C; Ståhle, M; Su, Z; Tazi Ahnini, R; Traupe, H; Viswanathan, A; Warren, R; Weger, W; Wolk, K; Wood, N; Worthington, J; Young, H; Zeeuwen, P; Hayday, A; Burden, A; Griffiths, C; Kere, J; Reis, A; Mcvean, G; Evans, D; Brown, M; Barker, J; Peltonen, L; Donnelly, P; Trembath, R | Articolo su rivista | |
| 1-mag-2021 | A large family with p.Arg554His mutation in ABCD1: clinical features and genotype/phenotype correlation in female carriers | Campopiano, R; Femiano, C; Chiaravalloti, M; Ferese, R; Centonze, D; Buttari, F; Zampatti, S; Fanelli, M; Amatori, S; D'Alessio, C; Giardina, E; Fornai, F; Biagioni, F; Storto, M; Gambardella, S | Articolo su rivista | |
| 1-gen-2004 | A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 | Bonifazi, E; Vallo, L; Giardina, E; Botta, A; Novelli, G | Articolo su rivista | |
| 1-dic-2008 | A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15 | Giardina, E; Peconi, C; Cascella, R; Sinibaldi, C; Nardone, A; Novelli, G | Articolo su rivista | |
| 1-giu-2009 | A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7 | Giardina, E; Peconi, C; Cascella, R; Sinibaldi, C; Foti Cuzzola, V; Nardone, A; Bramanti, P; Novelli, G | Articolo su rivista | |
| 1-gen-2009 | A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form | Concolino, P; Mello, E; Minucci, A; Giardina, E; Zuppi, C; Toscano, V; Capoluongo, E | Articolo su rivista | |
| 1-gen-2016 | A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS) | Ferese, R; Zampatti, S; Griguoli, A; Fornai, F; Giardina, E; Barrano, G; Albano, V; Campopiano, R; Scala, S; Novelli, G; Gambardella, S | Articolo su rivista | |
| 1-gen-2020 | A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4 | Campopiano, R; Ferese, R; Buttari, F; Femiano, C; Centonze, D; Fornai, F; Biagioni, F; Chiaravalloti, Ma; Magnani, M; Giardina, E; Ruzzo, A; Gambardella, S | Articolo su rivista | |
| 29-giu-2020 | A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset | Campopiano, R; Ferese, R; Zampatti, S; Giardina, E; Biagioni, F; Colonnese, C; Centonze, D; Storto, M; Buttari, F; Fraviga, E; Broccoli, V; Fanelli, M; Fornai, F; Gambardella, S | Articolo su rivista | |
| 12-mar-2015 | A Pharmacogenetics Study in Mozambican Patients Treated with Nevirapine: Full Resequencing of TRAF3IP2 Gene Shows a Novel Association with SJS/TEN Susceptibility | Ciccacci, C; Rufini, S; Mancinelli, S; Buonomo, E; Giardina, E; Scarcella, P; Marazzi, M; Novelli, G; Palombi, L; Borgiani, P | Articolo su rivista | |
| 1-gen-2014 | Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis | Terrinoni, A; Giardina, E; Pertusi, G; Cascella, R; Serra, V; Bornacina, C; Palombo, R; Tiberio, R; Gattoni, M; Novelli, G; Annicchiarico Petruzzelli, M; Melino, G; Colombo, E | Articolo su rivista | |
| 1-gen-2014 | Age-related macular degeneration: insights into inflammatory genes | Cascella, R; Ragazzo, M; Strafella, C; Missiroli, F; Borgiani, P; Angelucci, F; Marsella, Lt; Cusumano, A; Novelli, G; Ricci, F; Giardina, E | Articolo su rivista | |
| 1-gen-2020 | Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications | Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R | Articolo su rivista | |
| 1-gen-2018 | Application of precision medicine in neurodegenerative diseases | Strafella, C; Caputo, V; Galota, Mr; Zampatti, S; Marella, G; Mauriello, S; Cascella, R; Giardina, E | Articolo su rivista | |
| 1-gen-2018 | Assessing individual risk for AMD with genetic counseling, family history, and genetic testing | Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, Lt; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E | Articolo su rivista | |
| 1-mag-2013 | Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients | Lepre, T; Cascella, R; Ragazzo, M; Galli, E; Novelli, G; Giardina, E | Articolo su rivista | |
| 1-gen-2003 | Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction. | Mango, R; Clementi, F; Borgiani, P; Forleo, G; Federici, M; Contino, G; Giardina, E; Garza, L; Fahdi, I; Lauro, R; Mehta, J; Novelli, G; Romeo, F | Articolo su rivista | |
| 4-giu-2019 | Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations. | Strafella, C; Caputo, V; Minozzi, G; Milano, F; Arcangeli, M; Sobhy, N; Abdelmaksood, R; Hashad, D; Vakirlis, E; Novelli, G; Cascella, R; Giardina, E | Articolo su rivista |