PALAZZO, VIVIANA
PALAZZO, VIVIANA
Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'
[A child with severe growth delay and renal cysts]
2019 Vergine, Gianluca; Ravaioli, Elisa; Palazzo, Viviana; Gambaro, Giovanni; Giglio, Sabrina
A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1
2025 Daenen, Myrte; Hureaux, Marguerite; Ashton, Emma; Becherucci, Francesca; Barry, Ian; Benz, Marcus; Bjerre, Anna; Buckton, Andrew; Caswell, Richard; Duff-Farrier, Celia; Hayward, Samantha; Mcallister, Joseph; Moczulska, Anna; Palazzo, Viviana; Platt, Caroline; Prajapati, Hitesh; Saleem, Moin; Schlingmann, Karl-Peter; Telma, Francisco; Zaniew, Marcin; Emma, Francesco; Bockenhauer, Detlef
Anti-podocin Enzyme-Linked Immunosorbent Assay Guides Immunotherapy in Steroid-Resistant Nephrotic Syndrome.
2025 Valentina Raglianti, Luigi Cirillo, Maria Lucia Angelotti, Letizia De Chiara, Benedetta Mazzinghi, Giulia Antonelli, Carolina Conte, Maria Elena Melica, Anna Julie Peired, Elena Lazzeri, Laura Lasagni, Viviana Palazzo, Samuela Landini, Anna Maria Buccoliero, Samantha Innocenti, Carmela Errichiello, Elisa Buti, Giulia Sansavini, Andrea La Tessa, Francesca Becherucci, Hans-Joachim Anders, Paola Romagnani
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes
2020 Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Kurtas, Silvia Guarducci, Sara Bargiacchi, Giulia Forzano, Rosangela Artuso, Viviana Palazzo, Ada Kura, Flavio Giordano, Daniele di Feo, Marzia Mortilla, Claudio De Filippi, Gianluca Mattei, Livia Garavelli, Betti Giusti, Lorenzo Genitori, Orsetta Zuffardi & Sabrina Giglio
Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome
2022 Palazzo, Viviana; Raglianti, Valentina; Landini, Samuela; Cirillo, Luigi; Errichiello, Carmela; Buti, Elisa; Artuso, Rosangela; Tiberi, Lucia; Vergani, Debora; Dirupo, Elia; Romagnani, Paola; Mazzinghi, Benedetta; Becherucci, Francesca
Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature
2023 Mazzierli, Tommaso; Cirillo, Luigi; Palazzo, Viviana; Ravaglia, Fiammetta; Becherucci, Francesca
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
2021 Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
2024 Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S
Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature
2024 Barbato, Alessandro; Gori, Giulia; Sacchini, Michele; Pochiero, Francesca; Bargiacchi, Sara; Traficante, Giovanna; Palazzo, Viviana; Tiberi, Lucia; Bianchini, Claudia; Mei, Davide; Parrini, Elena; Pisano, Tiziana; Procopio, Elena; Guerrini, Renzo; Peron, Angela; Stagi, Stefano
Guidelines for Genetic Testing and Management of Alport Syndrome
2022 Savige, Judy; Lipska-Zietkiewicz, Beata S; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabet; Bierzynska, Agnieszka; Gangemi, Concetta; Renieri, Alessandra; Storey, Helen; Flinter, Frances
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report
2021 Peluso, Francesca; Palazzo, Viviana; Indolfi, Giuseppe; Mari, Francesco; Pasqualetti, Roberta; Procopio, Elena; Nesti, Claudia; Guerrini, Renzo; Santorelli, Filippo; Giglio, Sabrina
Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis.
2016 Giunti, Laura; Buccoliero, Anna Maria; Pantaleo, Marilena; Lucchesi, Maurizio; Provenzano, Aldesia; Palazzo, Viviana; Guarducci, Silvia; Guidi, Milena; Genitori, Lorenzo; Zuffardi, Orsetta; Sardi, Iacopo; Giglio, Sabrina
MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS
2016 Giunti, L; Lucchesi, M; Palazzo, V; Guidi, M; Genitori, L; Giglio, S; Sardi, I
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights
2024 Bacci, Giacomo M; Marziali, Elisa; Bargiacchi, Sara; Paques, Michel; Virgili, Gianni; Fortunato, Pina; Durand, Marine; Rocca, Camilla; Pagliazzi, Angelica; Palazzo, Viviana; Tiberi, Lucia; Vergani, Debora; Landini, Samuela; Peron, Angela; Artuso, Rosangela; Pacini, Bianca; Stabile, Monica; Sodi, Andrea; Caputo, Roberto
NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali
2013 V.Palazzo; A.Provenzano; R.Artuso; E.Andreucci; M.Materassi; F.Emma; E.Benetti; M.Caruso; G.Ghiggeri; M.Genuardi; P.Romagnai; I.Pela; S.Giglio
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome
2020 Aldesia Provenzano, Viviana Palazzo, Paolo Reho, Angelica Pagliazzi, Annabella Marozza, Antonio Farina, Orsetta Zuffardi, Sabrina Giglio
Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene
2015 Artuso, R; Provenzano, A; Mazzinghi, B; Palazzo, V; Romano, S; Stagi, S; Giglio, S
Studio clinico e molecolare di famiglie italiane affette da displasia ectodermica: analisi dei geni ED1, EDAR ed EDARADD
2009 I.Sani; V.Palazzo; E.Andreucci; E.Lapi; S.Guarducci; M.Priolo; F. Lalatta; A.Selicorni; GL.Tadini; R.Tenconi; M. Genuardi; P.Nannini. G.V.Zuccotti; L.Guazzarotti; S.Giglio
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis
2017 Palazzo, Viviana; Provenzano, Aldesia; Becherucci, Francesca; Sansavini, Giulia; Mazzinghi, Benedetta; Orlandini, Valerio; Giunti, Laura; Roperto, Rosa Maria; Pantaleo, Marilena; Artuso, Rosangela; Andreucci, Elena; Bargiacchi, Sara; Traficante, Giovanna; Stagi, Stefano; Murer, Luisa; Benetti, Elisa; Emma, Francesco; Giordano, Mario; Rivieri, Francesca; Colussi, Giacomo; Penco, Silvana; Manfredini, Emanuela; Caruso, Maria Rosa; Garavelli, Livia; Andrulli, Simeone; Vergine, Gianluca; Miglietti, Nunzia; Mancini, Elena; Malaventura, Cristina; Percesepe, Antonio; Grosso, Enrico; Materassi, Marco; Romagnani, Paola; Giglio, Sabrina
The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease
2014 V. Palazzo; A. Provenzano; A. La Barbera; E. Andreucci; B. Mazzinghi; M. Pantaleo; M. Caruso; L. Garavelli; G. Gambaro; M. Materassi; P. Romagnani;S. Giglio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| [A child with severe growth delay and renal cysts] | 2019 | Vergine, Gianluca; Ravaioli, Elisa; Palazzo, Viviana; Gambaro, Giovanni; Giglio, Sabrina | |
| A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1 | 2025 | Daenen, Myrte; Hureaux, Marguerite; Ashton, Emma; Becherucci, Francesca; Barry, Ian; Benz, Marcus; Bjerre, Anna; Buckton, Andrew; Caswell, Richard; Duff-Farrier, Celia; Hayward, Samantha; Mcallister, Joseph; Moczulska, Anna; Palazzo, Viviana; Platt, Caroline; Prajapati, Hitesh; Saleem, Moin; Schlingmann, Karl-Peter; Telma, Francisco; Zaniew, Marcin; Emma, Francesco; Bockenhauer, Detlef | |
| Anti-podocin Enzyme-Linked Immunosorbent Assay Guides Immunotherapy in Steroid-Resistant Nephrotic Syndrome. | 2025 | Valentina Raglianti, Luigi Cirillo, Maria Lucia Angelotti, Letizia De Chiara, Benedetta Mazzinghi, Giulia Antonelli, Carolina Conte, Maria Elena Melica, Anna Julie Peired, Elena Lazzeri, Laura Lasagni, Viviana Palazzo, Samuela Landini, Anna Maria Buccoliero, Samantha Innocenti, Carmela Errichiello, Elisa Buti, Giulia Sansavini, Andrea La Tessa, Francesca Becherucci, Hans-Joachim Anders, Paola Romagnani | |
| Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin remodeling genes | 2020 | Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Kurtas, Silvia Guarducci, Sara Bargiacchi, Giulia Forzano, Rosangela Artuso, Viviana Palazzo, Ada Kura, Flavio Giordano, Daniele di Feo, Marzia Mortilla, Claudio De Filippi, Gianluca Mattei, Livia Garavelli, Betti Giusti, Lorenzo Genitori, Orsetta Zuffardi & Sabrina Giglio | |
| Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome | 2022 | Palazzo, Viviana; Raglianti, Valentina; Landini, Samuela; Cirillo, Luigi; Errichiello, Carmela; Buti, Elisa; Artuso, Rosangela; Tiberi, Lucia; Vergani, Debora; Dirupo, Elia; Romagnani, Paola; Mazzinghi, Benedetta; Becherucci, Francesca | |
| Clinical features suggesting renal hypouricemia as the cause of acute kidney injury: a case report and review of the literature | 2023 | Mazzierli, Tommaso; Cirillo, Luigi; Palazzo, Viviana; Ravaglia, Fiammetta; Becherucci, Francesca | |
| Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria | 2021 | Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S | |
| Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria | 2024 | Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S | |
| Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature | 2024 | Barbato, Alessandro; Gori, Giulia; Sacchini, Michele; Pochiero, Francesca; Bargiacchi, Sara; Traficante, Giovanna; Palazzo, Viviana; Tiberi, Lucia; Bianchini, Claudia; Mei, Davide; Parrini, Elena; Pisano, Tiziana; Procopio, Elena; Guerrini, Renzo; Peron, Angela; Stagi, Stefano | |
| Guidelines for Genetic Testing and Management of Alport Syndrome | 2022 | Savige, Judy; Lipska-Zietkiewicz, Beata S; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabet; Bierzynska, Agnieszka; Gangemi, Concetta; Renieri, Alessandra; Storey, Helen; Flinter, Frances | |
| Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report | 2021 | Peluso, Francesca; Palazzo, Viviana; Indolfi, Giuseppe; Mari, Francesco; Pasqualetti, Roberta; Procopio, Elena; Nesti, Claudia; Guerrini, Renzo; Santorelli, Filippo; Giglio, Sabrina | |
| Molecular characterization of paediatric glioneuronal tumours with neuropil-like islands: a genome-wide copy number analysis. | 2016 | Giunti, Laura; Buccoliero, Anna Maria; Pantaleo, Marilena; Lucchesi, Maurizio; Provenzano, Aldesia; Palazzo, Viviana; Guarducci, Silvia; Guidi, Milena; Genitori, Lorenzo; Zuffardi, Orsetta; Sardi, Iacopo; Giglio, Sabrina | |
| MOLECULAR CHARACTERIZATION OF PEDIATRIC GLIONEURONAL TUMOR WITH NEUROPIL-LIKE ISLANDS: A GENOME-WIDE COPY NUMBER ANALYSIS | 2016 | Giunti, L; Lucchesi, M; Palazzo, V; Guidi, M; Genitori, L; Giglio, S; Sardi, I | |
| Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights | 2024 | Bacci, Giacomo M; Marziali, Elisa; Bargiacchi, Sara; Paques, Michel; Virgili, Gianni; Fortunato, Pina; Durand, Marine; Rocca, Camilla; Pagliazzi, Angelica; Palazzo, Viviana; Tiberi, Lucia; Vergani, Debora; Landini, Samuela; Peron, Angela; Artuso, Rosangela; Pacini, Bianca; Stabile, Monica; Sodi, Andrea; Caputo, Roberto | |
| NGS e malattie renali: aspetti clinici e molecolari delle acidosi tubulari renali | 2013 | V.Palazzo; A.Provenzano; R.Artuso; E.Andreucci; M.Materassi; F.Emma; E.Benetti; M.Caruso; G.Ghiggeri; M.Genuardi; P.Romagnai; I.Pela; S.Giglio | |
| Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome | 2020 | Aldesia Provenzano, Viviana Palazzo, Paolo Reho, Angelica Pagliazzi, Annabella Marozza, Antonio Farina, Orsetta Zuffardi, Sabrina Giglio | |
| Severe Obesity Associated with Severe Hyperinsulinism and T2D in a Family with Mutation in SH2B1 Gene | 2015 | Artuso, R; Provenzano, A; Mazzinghi, B; Palazzo, V; Romano, S; Stagi, S; Giglio, S | |
| Studio clinico e molecolare di famiglie italiane affette da displasia ectodermica: analisi dei geni ED1, EDAR ed EDARADD | 2009 | I.Sani; V.Palazzo; E.Andreucci; E.Lapi; S.Guarducci; M.Priolo; F. Lalatta; A.Selicorni; GL.Tadini; R.Tenconi; M. Genuardi; P.Nannini. G.V.Zuccotti; L.Guazzarotti; S.Giglio | |
| The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis | 2017 | Palazzo, Viviana; Provenzano, Aldesia; Becherucci, Francesca; Sansavini, Giulia; Mazzinghi, Benedetta; Orlandini, Valerio; Giunti, Laura; Roperto, Rosa Maria; Pantaleo, Marilena; Artuso, Rosangela; Andreucci, Elena; Bargiacchi, Sara; Traficante, Giovanna; Stagi, Stefano; Murer, Luisa; Benetti, Elisa; Emma, Francesco; Giordano, Mario; Rivieri, Francesca; Colussi, Giacomo; Penco, Silvana; Manfredini, Emanuela; Caruso, Maria Rosa; Garavelli, Livia; Andrulli, Simeone; Vergine, Gianluca; Miglietti, Nunzia; Mancini, Elena; Malaventura, Cristina; Percesepe, Antonio; Grosso, Enrico; Materassi, Marco; Romagnani, Paola; Giglio, Sabrina | |
| The promise and challenge of high throughput sequencing to discover genes involved in Medullary Sponge Kidney disease | 2014 | V. Palazzo; A. Provenzano; A. La Barbera; E. Andreucci; B. Mazzinghi; M. Pantaleo; M. Caruso; L. Garavelli; G. Gambaro; M. Materassi; P. Romagnani;S. Giglio |