Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
Mastrangelo, Antonio, Madeira, Catarina, Castorina, Pierangela, Giani, Marisa, Montini, Giovanni
Published in Nephrology, dialysis, transplantation (23.11.2022)
Published in Nephrology, dialysis, transplantation (23.11.2022)
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Early Volume Expansion and Outcomes of Hemolytic Uremic Syndrome
Ardissino, Gianluigi, Tel, Francesca, Possenti, Ilaria, Testa, Sara, Consonni, Dario, Paglialonga, Fabio, Salardi, Stefania, Borsa-Ghiringhelli, Nicolò, Salice, Patrizia, Tedeschi, Silvana, Castorina, Pierangela, Colombo, Rosaria Maria, Arghittu, Milena, Daprai, Laura, Monzani, Alice, Tozzoli, Rosangela, Brigotti, Maurizio, Torresani, Erminio
Published in Pediatrics (Evanston) (01.01.2016)
Published in Pediatrics (Evanston) (01.01.2016)
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A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis
Giovanni Raimondo, Pieri, Ilaria, Possenti, Andrea, Secco, Pierangela, Castorina, Fabio, Paglialonga, Tommaso, Mina, Marco, Zecca, Enrico, Felici
Published in Pediatric blood & cancer (01.11.2022)
Published in Pediatric blood & cancer (01.11.2022)
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In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
Chiereghin, Chiara, Robusto, Michela, Lewis, Morag A, Caetano, Susana, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Steel, Karen P, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in PloS one (01.01.2023)
Published in PloS one (01.01.2023)
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First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family
Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna
Published in Journal of human genetics (01.04.2016)
Published in Journal of human genetics (01.04.2016)
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A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
Soldà, Giulia, Robusto, Michela, Primignani, Paola, Castorina, Pierangela, Benzoni, Elena, Cesarani, Antonio, Ambrosetti, Umberto, Asselta, Rosanna, Duga, Stefano
Published in Human molecular genetics (01.02.2012)
Published in Human molecular genetics (01.02.2012)
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Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in PloS one (01.06.2017)
Published in PloS one (01.06.2017)
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia
Published in European journal of human genetics : EJHG (01.01.2019)
Published in European journal of human genetics : EJHG (01.01.2019)
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SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in Frontiers in genetics (10.02.2021)
Published in Frontiers in genetics (10.02.2021)
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Hemoconcentration: a major risk factor for neurological involvement in hemolytic uremic syndrome
Ardissino, Gianluigi, Daccò, Valeria, Testa, Sara, Civitillo, Cristina Felice, Tel, Francesca, Possenti, Ilaria, Belingheri, Mirco, Castorina, Pierangela, Bolsa-Ghiringhelli, Nicolò, Tedeschi, Silvana, Paglialonga, Fabio, Salardi, Stefania, Consonni, Dario, Zoia, Elena, Salice, Patrizia, Chidini, Giovanna
Published in Pediatric nephrology (Berlin, West) (01.02.2015)
Published in Pediatric nephrology (Berlin, West) (01.02.2015)
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Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss
Chiereghin, Chiara, Robusto, Michela, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Asselta, Rosanna, Soldà, Giulia
Published in Cells (Basel, Switzerland) (24.05.2022)
Published in Cells (Basel, Switzerland) (24.05.2022)
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X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases
Mastrangelo, Antonio, Giani, Marisa, Groppali, Elena, Castorina, Pierangela, Soldà, Giulia, Robusto, Michela, Fallerini, Chiara, Bruttini, Mirella, Renieri, Alessandra, Montini, Giovanni
Published in Frontiers in medicine (23.11.2020)
Published in Frontiers in medicine (23.11.2020)
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The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome
Crovetto, Francesca, Borsa, Nicolò, Acaia, Barbara, Nishimura, Carla, Frees, Kathy, Smith, Richard J H, Peyvandi, Flora, Palla, Roberta, Cugno, Massimo, Tedeschi, Silvana, Castorina, Pierangela, Somigliana, Edgardo, Ardissino, Gianluigi, Fedele, Luigi
Published in The journal of maternal-fetal & neonatal medicine (01.11.2012)
Published in The journal of maternal-fetal & neonatal medicine (01.11.2012)
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In-depth genetic and molecular characterization of diaphanous related formin 2
Chiereghin, Chiara, Robusto, Michela, Lewis, Morag A, Caetano, Susana, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Steel, Karen P, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in PloS one (23.01.2023)
Published in PloS one (23.01.2023)
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Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
Baux, David, Blanchet, Catherine, Hamel, Christian, Meunier, Isabelle, Larrieu, Lise, Faugère, Valérie, Vaché, Christel, Castorina, Pierangela, Puech, Bernard, Bonneau, Dominique, Malcolm, Sue, Claustres, Mireille, Roux, Anne-Françoise
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
Robusto, Michela, Fang, Mingyan, Asselta, Rosanna, Castorina, Pierangela, Previtali, Stefano C, Caccia, Sonia, Benzoni, Elena, De Cristofaro, Raimondo, Yu, Cong, Cesarani, Antonio, Liu, Xuanzhu, Li, Wangsheng, Primignani, Paola, Ambrosetti, Umberto, Xu, Xun, Duga, Stefano, Soldà, Giulia
Published in European journal of human genetics : EJHG (01.06.2015)
Published in European journal of human genetics : EJHG (01.06.2015)
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Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers
Conte, Giorgio, Lo Russo, Francesco, Caschera, Luca, Zanetti, Diego, Castorina, Pierangela, Sina, Clara, Triulzi, Fabio, Di Berardino, Federica
Published in Audiology & neurotology (01.01.2019)
Published in Audiology & neurotology (01.01.2019)
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multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
Rodríguez-Ballesteros, Montserrat, Reynoso, Raúl, Olarte, Margarita, Villamar, Manuela, Morera, Constantino, Santarelli, Rosamaria, Arslan, Edoardo, Medá, Carme, Curet, Carlos, Völter, Christiane, Sainz-Quevedo, Manuel, Castorina, Pierangela, Ambrosetti, Umberto, Berrettini, Stefano, Frei, Klemens, Tedín, Socorro, Smith, Janine, Cruz Tapia, M, Cavallé, Laura, Gelvez, Nancy, Primignani, Paola, Gómez-Rosas, Elena, Martín, Mirta, Moreno-Pelayo, Miguel A, Tamayo, Martalucía, Moreno-Barral, José, Moreno, Felipe, del Castillo, Ignacio
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour
Sparago, Angela, Russo, Silvia, Cerrato, Flavia, Ferraiuolo, Serena, Castorina, Pierangela, Selicorni, Angelo, Schwienbacher, Christine, Negrini, Massimo, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo, Anichini, Cecilia, Larizza, Lidia, Riccio, Andrea
Published in Human molecular genetics (01.02.2007)
Published in Human molecular genetics (01.02.2007)
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