Search Results - "Seri, Marco"

Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis by Vitale, Giovanni, Mattiaccio, Alessandro, Conti, Amalia, Berardi, Sonia, Vero, Vittoria, Turco, Laura, Seri, Marco, Morelli, Maria Cristina

“…Idiosyncratic Drug-Induced Liver Injury (iDILI) represents an actual health challenge, accounting for more than 40% of hepatitis cases in adults over 50 years…”
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Exploration of Tools for the Interpretation of Human Non-Coding Variants by Tabarini, Nicole, Biagi, Elena, Uva, Paolo, Iovino, Emanuela, Pippucci, Tommaso, Seri, Marco, Cavalli, Andrea, Ceccherini, Isabella, Rusmini, Marta, Viti, Federica

“…The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection range, revealing the presence of variants even in non-coding regions of…”
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Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families by Noris, Patrizia, Perrotta, Silverio, Seri, Marco, Pecci, Alessandro, Gnan, Chiara, Loffredo, Giuseppe, Pujol-Moix, Nuria, Zecca, Marco, Scognamiglio, Francesca, De Rocco, Daniela, Punzo, Francesca, Melazzini, Federica, Scianguetta, Saverio, Casale, Maddalena, Marconi, Caterina, Pippucci, Tommaso, Amendola, Giovanni, Notarangelo, Lucia D., Klersy, Catherine, Civaschi, Elisa, Balduini, Carlo L., Savoia, Anna

“…Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known…”
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia by Melazzini, Federica, Palombo, Flavia, Balduini, Alessandra, De Rocco, Daniela, Marconi, Caterina, Noris, Patrizia, Gnan, Chiara, Pippucci, Tommaso, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Doubek, Michael, Di Buduo, Christian A, Kozubik, Katerina Stano, Radova, Lenka, Loffredo, Giuseppe, Pospisilova, Sarka, Alfano, Caterina, Seri, Marco, Balduini, Carlo L, Pecci, Alessandro, Savoia, Anna

“…ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to…”
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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy by Aoun, Manar, Passerini, Ilaria, Chiurazzi, Pietro, Karali, Marianthi, De Rienzo, Irene, Sartor, Giovanna, Murro, Vittoria, Filimonova, Natalia, Seri, Marco, Banfi, Sandro

“…Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and…”
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Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing by Vitale, Giovanni, Gitto, Stefano, Raimondi, Francesco, Mattiaccio, Alessandro, Mantovani, Vilma, Vukotic, Ranka, D’Errico, Antonietta, Seri, Marco, Russell, Robert B., Andreone, Pietro

“…Background Mutations in ATP-transporters ATPB81 , ABCB11 , and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and…”
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Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC by Barozzi, Serena, Di Buduo, Christian A, Marconi, Caterina, Bozzi, Valeria, Seri, Marco, Romano, Francesca, Balduini, Alessandra, Pecci, Alessandro

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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2 by Pippucci, Tommaso, Savoia, Anna, Perrotta, Silverio, Pujol-Moix, Núria, Noris, Patrizia, Castegnaro, Giovanni, Pecci, Alessandro, Gnan, Chiara, Punzo, Francesca, Marconi, Caterina, Gherardi, Samuele, Loffredo, Giuseppe, De Rocco, Daniela, Scianguetta, Saverio, Barozzi, Serena, Magini, Pamela, Bozzi, Valeria, Dezzani, Luca, Di Stazio, Mariateresa, Ferraro, Marcella, Perini, Giovanni, Seri, Marco, Balduini, Carlo L.

“…THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that…”
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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy by Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio

“…Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only…”
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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup by Marconi, Caterina, Pecci, Alessandro, Palombo, Flavia, Melazzini, Federica, Bottega, Roberta, Nardi, Elena, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Giangregorio, Tania, Magini, Pamela, Balduini, Carlo L, Savoia, Anna, Seri, Marco, Noris, Patrizia, Pippucci, Tommaso

“…Inherited thrombocytopenias (IT) are genetic diseases characterized by low platelet count, sometimes associated with congenital defects or a predisposition to…”
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Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer by Diquigiovanni, Chiara, Bergamini, Christian, Evangelisti, Cecilia, Isidori, Federica, Vettori, Andrea, Tiso, Natascia, Argenton, Francesco, Costanzini, Anna, Iommarini, Luisa, Anbunathan, Hima, Pagotto, Uberto, Repaci, Andrea, Babbi, Giulia, Casadio, Rita, Lenaz, Giorgio, Rhoden, Kerry J., Porcelli, Anna Maria, Fato, Romana, Bowcock, Anne, Seri, Marco, Romeo, Giovanni, Bonora, Elena

“…Familial aggregation is a significant risk factor for the development of thyroid cancer and familial non‐medullary thyroid cancer (FNMTC) accounts for 5–7% of…”
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Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism by Panza, Emanuele, Martinelli, Diego, Magini, Pamela, Dionisi Vici, Carlo, Seri, Marco

“…Hereditary Spastic Paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by a progressive…”
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Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation by Faleschini, Michela, Papa, Nicole, Morel-Kopp, Marie-Christine, Marconi, Caterina, Giangregorio, Tania, Melazzini, Federica, Bozzi, Valeria, Seri, Marco, Noris, Patrizia, Pecci, Alessandro, Savoia, Anna, Bottega, Roberta

“…GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with…”
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ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization by Bottega, Roberta, Marconi, Caterina, Faleschini, Michela, Baj, Gabriele, Cagioni, Claudia, Pecci, Alessandro, Pippucci, Tommaso, Ramenghi, Ugo, Pardini, Simonetta, Ngu, Loretta, Baronci, Carlo, Kunishima, Shinji, Balduini, Carlo L., Seri, Marco, Savoia, Anna, Noris, Patrizia

“…Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations…”
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A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report by Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Gonfiantini, Michaela V., Cortellessa, Fabiana, Caciolo, Cristina, Zollino, Marcella, Accadia, Maria, Seri, Marco, Chinali, Marcello, Mammì, Corrado, Tartaglia, Marco, Bartuli, Andrea, Alfieri, Paolo, Priolo, Manuela

“…Abstract Background Malan syndrome (MALNS) is a recently described ultrarare syndrome lacking guidelines for diagnosis, management and monitoring of evolutive…”
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Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association by Pelleri, Maria Chiara, Locatelli, Chiara, Mattina, Teresa, Bonaglia, Maria Clara, Piazza, Francesca, Magini, Pamela, Antonaros, Francesca, Ramacieri, Giuseppe, Vione, Beatrice, Vitale, Lorenza, Seri, Marco, Strippoli, Pierluigi, Cocchi, Guido, Piovesan, Allison, Caracausi, Maria

“…Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the…”
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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families by Mantovani, Vilma, Bin, Sofia, Graziano, Claudio, Capelli, Irene, Minardi, Raffaella, Aiello, Valeria, Ambrosini, Enrico, Cristalli, Carlotta Pia, Mattiaccio, Alessandro, Pariali, Milena, De Fanti, Sara, Faletra, Flavio, Grosso, Enrico, Cantone, Rachele, Mancini, Elena, Mencarelli, Francesca, Pasini, Andrea, Wischmeijer, Anita, Sciascia, Nicola, Seri, Marco, La Manna, Gaetano

“…Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in…”
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Narcolepsy is a common phenotype in HSAN IE and ADCA-DN by MOGHADAM, Keivan Kaveh, PIZZA, Fabio, DONADIO, Vincenzo, PARCHI, Piero, CORNELIO, Ferdinando, INZITARI, Domenico, MIGNARRI, Andrea, CAPOCCHI, Giuseppe, DOTTI, Maria Teresa, WINKELMANN, Juliane, LING LIN, MIGNOT, Emmanuel, LA MORGIA, Chiara, CARELLI, Valerio, PLAZZI, Giuseppe, FRANCESCHINI, Christian, TONON, Caterina, LODI, Raffaele, BARBONI, Piero, SERI, Marco, FERRARI, Simona, LIGUORI, Rocco

“…We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations…”
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Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only by Iovino, Emanuela, Scapoli, Luca, Palmieri, Annalisa, Sgarzani, Rossella, Nouri, Nayereh, Pellati, Agnese, Carinci, Francesco, Seri, Marco, Pippucci, Tommaso, Martinelli, Marcella

“…In recent decades, many efforts have been made to elucidate the genetic causes of non-syndromic cleft palate (nsCPO), a complex congenital disease caused by…”
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EXCAVATOR: detecting copy number variants from whole-exome sequencing data by Magi, Alberto, Tattini, Lorenzo, Cifola, Ingrid, D'Aurizio, Romina, Benelli, Matteo, Mangano, Eleonora, Battaglia, Cristina, Bonora, Elena, Kurg, Ants, Seri, Marco, Magini, Pamela, Giusti, Betti, Romeo, Giovanni, Pippucci, Tommaso, De Bellis, Gianluca, Abbate, Rosanna, Gensini, Gian Franco

“…We developed a novel software tool, EXCAVATOR, for the detection of copy number variants (CNVs) from whole-exome sequencing data. EXCAVATOR combines a…”
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