Sfoglia per Autore ZAMPATTI, STEFANIA
Review of nutrient actions on age-related macular degeneration
2014-02-01 Zampatti, S; Ricci, F; Cusumano, A; Marsella, Lt; Novelli, G; Giardina, E
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis
2014-04-09 Pietropolli, A; Vicario, R; Peconi, C; Zampatti, S; Quitadamo, M; Capogna, M; Ragazzo, M; Nardone, A; Postorivo, D; Spitalieri, P; Sarta, S; Ratto, F; Novelli, G; Sangiuolo, Fc; Piccione, E; Giardina, E
Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV?
2014-08-01 Cordiali Fei, P; Latini, A; Trento, E; Zampatti, S; Ferraresi, V; Cota, C; Volpi, S; D'Agosto, G; Bordignon, V; Giardina, E; Di Carlo, A; Cristaudo, A; Ensoli, F
Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing
2015-01-01 Cascella, R; Stocchi, L; Strafella, C; Mezzaroma, I; Mannazzu, M; Vullo, V; Montella, F; Parruti, G; Borgiani, P; Sangiuolo, Fc; Novelli, G; Pirazzoli, A; Zampatti, S; Giardina, E
Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01
2015-01-01 Cascella, R; Strafella, C; Ragazzo, M; Zampatti, S; Borgiani, P; Gambardella, S; Pirazzoli, A; Novelli, G; Giardina, 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
Next Generation Sequencing and ALS: known genes, different phenotyphes.
2017-01-01 Campopiano, R; Ryskalin, L; Giardina, E; Zampatti, S; Busceti, C; Biagioni, F; Ferese, R; Storto, M; Gambardella, S; Fornai, F
PCR-based approach for qualitative molecular analysis of six neurotropic pathogens
2017-01-01 Ferese, R; Scorzolini, L; Campopiano, R; Albano, V; Griguoli, A; Giardina, E; Scala, S; Ryskalin, L; D'Alessio, C; Zampatti, S; Fantozzi, R; Storto, M; Fornai, F; Gambardella, S
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)
2017-01-01 Ferese, R; Albano, V; Falconi, M; Iacovelli, F; Campopiano, R; Scala, S; Griguoli, Am; Gaglione, A; Giardina, E; Zampatti, S; Storto, M; Fornai, F; D'Alessio, C; Novelli, G; Gambardella, S
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
Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis
2018-01-01 Zampatti, S; Mela, J; Peconi, C; Pagliaroli, G; Carboni, S; Barrano, G; Zito, I; Cascella, R; Marella, G; Milano, F; Arcangeli, M; Caltagirone, C; Novelli, A; Giardina, E
Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease.
2018-01-01 Ferese, R; Scala, S; Biagioni, F; Giardina, E; Zampatti, S; Modugno, N; Colonnese, C; Storto, M; Fornai, F; Novelli, G; Ruggieri, S; Gambardella, S
Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD
2018-01-01 Cascella, R; Strafella, C; Caputo, V; Galota, Rm; Errichiello, V; Scutifero, M; Petillo, R; Marella, Gl; Arcangeli, M; Colantoni, L; Zampatti, S; Ricci, E; Deidda, G; Politano, L; Giardina, E
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report.
2019-01-01 Strafella, C; Campoli, G; Galota, R; Caputo, V; Pagliaroli, G; Carboni, S; Zampatti, S; Peconi, C; Mela, J; Sancricca, C; Primiano, G; Minozzi, G; Servidei, S; Cascella, R; Giardina, E
Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study.
2019-01-01 Mancini, V; Mastria, G; Frantellizzi, V; Troiani, P; Zampatti, S; Carboni, S; Giardina, E; Campopiano, R; Gambardella, S; Turchi, F; Petolicchio, B; Toscano, M; Liberatore, M; Viganò, A; Di Piero, V
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
2019-01-01 Zampatti, S; Colantoni, L; Strafella, C; Galota, R; Caputo, V; Campoli, G; Pagliaroli, G; Carboni, S; Mela, J; Peconi, C; Gambardella, S; Cascella, R; Giardina, E
Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene
2019-10-01 Strafella, C; Caputo, V; Pagliaroli, G; Iozzo, N; Campoli, G; Carboni, S; Peconi, C; Galota, Rm; Zampatti, S; Minozzi, G; Novelli, G; Giardina, E; Cascella, R
Genetic counseling and NGS screening for recessive LGMD2A families
2020-01-01 Strafella, C; Caputo, V; Campoli, G; Galota, R; Mela, J; Zampatti, S; Minozzi, G; Sancricca, C; Servidei, S; Giardina, E; Cascella, R
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
Genetic counselling improves the molecular characterisation of dementing disorders
2021-01-01 Zampatti, S; Ragazzo, M; Peconi, C; Luciano, S; Gambardella, S; Caputo, V; Strafella, C; Cascella, R; Caltagirone, C; Giardina, E
Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
---|---|---|---|---|
1-feb-2014 | Review of nutrient actions on age-related macular degeneration | Zampatti, S; Ricci, F; Cusumano, A; Marsella, Lt; Novelli, G; Giardina, E | Articolo su rivista | |
9-apr-2014 | Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis | Pietropolli, A; Vicario, R; Peconi, C; Zampatti, S; Quitadamo, M; Capogna, M; Ragazzo, M; Nardone, A; Postorivo, D; Spitalieri, P; Sarta, S; Ratto, F; Novelli, G; Sangiuolo, Fc; Piccione, E; Giardina, E | Articolo su rivista | |
1-ago-2014 | Familial Kaposi's Sarcoma in HHV8 infected subjects presenting the G-174C allele of the IL-6 promoter: a possible role for EBV? | Cordiali Fei, P; Latini, A; Trento, E; Zampatti, S; Ferraresi, V; Cota, C; Volpi, S; D'Agosto, G; Bordignon, V; Giardina, E; Di Carlo, A; Cristaudo, A; Ensoli, F | Articolo su rivista | |
1-gen-2015 | Comparative analysis between saliva and buccal swabs as source of DNA: Lesson from HLA-B∗57:01 testing | Cascella, R; Stocchi, L; Strafella, C; Mezzaroma, I; Mannazzu, M; Vullo, V; Montella, F; Parruti, G; Borgiani, P; Sangiuolo, Fc; Novelli, G; Pirazzoli, A; Zampatti, S; Giardina, E | Articolo su rivista | |
1-gen-2015 | Direct PCR: a new pharmacogenetic approach for the inexpensive testing of HLA-B*57:01 | Cascella, R; Strafella, C; Ragazzo, M; Zampatti, S; Borgiani, P; Gambardella, S; Pirazzoli, A; Novelli, G; Giardina, 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-2017 | Next Generation Sequencing and ALS: known genes, different phenotyphes. | Campopiano, R; Ryskalin, L; Giardina, E; Zampatti, S; Busceti, C; Biagioni, F; Ferese, R; Storto, M; Gambardella, S; Fornai, F | Articolo su rivista | |
1-gen-2017 | PCR-based approach for qualitative molecular analysis of six neurotropic pathogens | Ferese, R; Scorzolini, L; Campopiano, R; Albano, V; Griguoli, A; Giardina, E; Scala, S; Ryskalin, L; D'Alessio, C; Zampatti, S; Fantozzi, R; Storto, M; Fornai, F; Gambardella, S | Articolo su rivista | |
1-gen-2017 | Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease) | Ferese, R; Albano, V; Falconi, M; Iacovelli, F; Campopiano, R; Scala, S; Griguoli, Am; Gaglione, A; Giardina, E; Zampatti, S; Storto, M; Fornai, F; D'Alessio, C; Novelli, G; Gambardella, S | 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 | Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis | Zampatti, S; Mela, J; Peconi, C; Pagliaroli, G; Carboni, S; Barrano, G; Zito, I; Cascella, R; Marella, G; Milano, F; Arcangeli, M; Caltagirone, C; Novelli, A; Giardina, E | Articolo su rivista | |
1-gen-2018 | Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's Disease. | Ferese, R; Scala, S; Biagioni, F; Giardina, E; Zampatti, S; Modugno, N; Colonnese, C; Storto, M; Fornai, F; Novelli, G; Ruggieri, S; Gambardella, S | Articolo su rivista | |
1-gen-2018 | Digenic inheritance of shortened repeat units of the D4Z4 region and a loss-of-function variant in SMCHD1 in a Family with FSHD | Cascella, R; Strafella, C; Caputo, V; Galota, Rm; Errichiello, V; Scutifero, M; Petillo, R; Marella, Gl; Arcangeli, M; Colantoni, L; Zampatti, S; Ricci, E; Deidda, G; Politano, L; Giardina, E | Articolo su rivista | |
1-gen-2019 | Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report. | Strafella, C; Campoli, G; Galota, R; Caputo, V; Pagliaroli, G; Carboni, S; Zampatti, S; Peconi, C; Mela, J; Sancricca, C; Primiano, G; Minozzi, G; Servidei, S; Cascella, R; Giardina, E | Articolo su rivista | |
1-gen-2019 | Migrainous Infarction in a Patient With Sporadic Hemiplegic Migraine and Cystic Fibrosis: A 99mTc-HMPAO Brain SPECT Study. | Mancini, V; Mastria, G; Frantellizzi, V; Troiani, P; Zampatti, S; Carboni, S; Giardina, E; Campopiano, R; Gambardella, S; Turchi, F; Petolicchio, B; Toscano, M; Liberatore, M; Viganò, A; Di Piero, V | Articolo su rivista | |
1-gen-2019 | Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era. | Zampatti, S; Colantoni, L; Strafella, C; Galota, R; Caputo, V; Campoli, G; Pagliaroli, G; Carboni, S; Mela, J; Peconi, C; Gambardella, S; Cascella, R; Giardina, E | Articolo su rivista | |
1-ott-2019 | Ngs analysis for molecular diagnosis of Retinitis Pigmentosa (RP): Detection of a novel variant in PRPH2 gene | Strafella, C; Caputo, V; Pagliaroli, G; Iozzo, N; Campoli, G; Carboni, S; Peconi, C; Galota, Rm; Zampatti, S; Minozzi, G; Novelli, G; Giardina, E; Cascella, R | Articolo su rivista | |
1-gen-2020 | Genetic counseling and NGS screening for recessive LGMD2A families | Strafella, C; Caputo, V; Campoli, G; Galota, R; Mela, J; Zampatti, S; Minozzi, G; Sancricca, C; Servidei, S; Giardina, E; Cascella, R | 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 | |
1-gen-2021 | Genetic counselling improves the molecular characterisation of dementing disorders | Zampatti, S; Ragazzo, M; Peconi, C; Luciano, S; Gambardella, S; Caputo, V; Strafella, C; Cascella, R; Caltagirone, C; Giardina, E | Articolo su rivista |
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