Search Results - "COVIELLO, Domenico A"

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe by Skirton, Heather, Lewis, Celine, Kent, Alastair, Coviello, Domenico A

“…The use of genetics and genomics within a wide range of health-care settings requires health professionals to develop expertise to practise appropriately…”
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ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 by Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo

“…Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We…”
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ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression by Degiorgio, Dario, Crosignani, Andrea, Colombo, Carla, Bordo, Domenico, Zuin, Massimo, Vassallo, Emanuela, Syrén, Marie-Louise, Coviello, Domenico A., Battezzati, Pier Maria

“…Background The ABCB4 gene encodes the MDR3 protein. Mutations of this gene cause progressive familial intrahepatic cholestasis type 3 (PFIC3) in children, but…”
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NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint by Conteduca, Giuseppina, Cangelosi, Davide, Coco, Simona, Malacarne, Michela, Baldo, Chiara, Arado, Alessia, Pinto, Rute, Testa, Barbara, Coviello, Domenico A

“…An increasing amount of evidence indicates the critical role of the NSD1 gene in Sotos syndrome (SoS), a rare genetic disease, and in tumors. Molecular…”
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Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy by Cecconi, Massimiliano, Parodi, Maria I, Formisano, Francesco, Spirito, Paolo, Autore, Camillo, Musumeci, Maria B, Favale, Stefano, Forleo, Cinzia, Rapezzi, Claudio, Biagini, Elena, Davì, Sabrina, Canepa, Elisabetta, Pennese, Loredana, Castagnetta, Mauro, Degiorgio, Dario, Coviello, Domenico A

“…Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to…”
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Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature by Bunyan, David J., Baffico, Maria, Capone, Lucia, Vannelli, Silvia, Iughetti, Lorenzo, Schmitt, Sébastien, Taylor, Emma-Jane, Herridge, Adam A., Shears, Deborah, Forabosco, Antonino, Coviello, Domenico A.

“…Leri–Weill dyschondrosteosis is a pseudoautosomal dominantly‐inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions,…”
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Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects by Conteduca, Giuseppina, Testa, Barbara, Baldo, Chiara, Arado, Alessia, Malacarne, Michela, Candiano, Giovanni, Garbarino, Andrea, Coviello, Domenico A., Cantoni, Claudia

“…•Identification of alternative splicing events for NSD1 gene.•Protein isoform structure prediction with multiple algorithms.•In silico prediction of known NSD1…”
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Clonal hematopoiesis impacts frailty in newly diagnosed multiple myeloma patients: a retrospective multicenter analysis by Gelli, Elisa, Martinuzzi, Claudia, Soncini, Debora, Conticello, Concetta, Ladisa, Francesco, Giorgetti, Giulia, Truffelli, Dario, Traverso, Isabella, Lai, Francesco, Guolo, Fabio, Miglino, Maurizio, Cagnetta, Antonia, Laudisi, Antonella, Aquino, Sara, Derudas, Daniele, Di Raimondo, Francesco, Coviello, Domenico A., Lemoli, Roberto M., Cea, Michele

“…Somatic mutations of hematopoietic cells in the peripheral blood of normal individuals refer to clonal hematopoiesis of indeterminate potential (CHIP), which…”
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EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias by Hayesmoore, Jesse B, Bhuiyan, Zahurul A, Coviello, Domenico A, du Sart, Desirée, Edwards, Matthew, Iascone, Maria, Morris-Rosendahl, Deborah J, Sheils, Katie, van Slegtenhorst, Marjon, Thomson, Kate L

“…Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased…”
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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD by Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne-Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curtis, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo

“…We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1…”
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Impact of NSD1 Alternative Transcripts in Actin Filament Formation and Cellular Division Pathways in Fibroblasts by Conteduca, Giuseppina, Cangelosi, Davide, Baldo, Chiara, Arado, Alessia, Testa, Barbara, Wagner, Ryan T, Robertson, Keith D, Dequiedt, Franck, Fitzsimmons, Lane, Malacarne, Michela, Filaci, Gilberto, Coviello, Domenico A

“…Germline variants in the NSD1 gene are responsible for Sotos syndrome, while somatic variants promote neoplastic cell transformation. Our previous studies…”
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Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma by Patrone, Serena, Maric, Irena, Rutigliani, Mariangela, Lanza, Francesco, Puntoni, Matteo, Banelli, Barbara, Rancati, Silvia, Angelini, Giovanna, Amaro, Adriana, Ligorio, Paolo, Defferrari, Carlotta, Castagnetta, Mauro, Bandelloni, Roberto, Mosci, Carlo, DeCensi, Andrea, Romani, Massimo, Pfeffer, Urlich, Viaggi, Silvia, Coviello, Domenico A.

“…Uveal melanoma (UM) exhibits recurring chromosomal abnormalities and gene driver mutations, which are related to tumor evolution/progression. Almost half of…”
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Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review by Gentilin, Barbara, Guerneri, Silvana, Bianchi, Vera, Natacci, Federica, Colombo, Augusto, Fogliani, Roberto, Fortuna, Renato, Coviello, Domenico A., Curcio, Cristina, Lalatta, Faustina

“…We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of…”
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Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries by Liehr, Thomas, Carreira, Isabel M, Balogh, Zsofia, Garrido, Elena Dominguez, Verdorfer, Irmgard, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina, Williams, Heather E

“…Specialists of human genetic diagnostics can be divided into four groups: Medical Geneticists (MDG), Genetic Nurses and/or Counsellors (GN/GC), Clinical…”
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Clinical Features and Genotype‐Phenotype Correlations in Children With Progressive Familial Intrahepatic Cholestasis Type 3 Related to ABCB4 Mutations by Colombo, Carla, Vajro, Pietro, Degiorgio, Dario, Coviello, Domenico A, Costantino, Lucy, Tornillo, Luigi, Motta, Valentina, Consonni, Dario, Maggiore, Giuseppe

“…ABSTRACT Objectives: The aim of the study was to estimate the frequency of ABCB4 mutations among children with chronic intrahepatic cholestasis with elevated…”
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European registration process for Clinical Laboratory Geneticists in genetic healthcare by Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina

“…Tremendous progress in genetics and genomics led to a wide range of healthcare providers, genetic tests, and more patients who can benefit from these…”
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Banking together: A unified model of informed consent for biobanking by Salvaterra, Elena, Lecchi, Lucilla, Giovanelli, Silvia, Butti, Barbara, Bardella, Maria Teresa, Bertazzi, Pier Alberto, Bosari, Silvano, Coggi, Guido, Coviello, Domenico A, Lalatta, Faustina, Moggio, Maurizio, Nosotti, Mario, Zanella, Alberto, Rebulla, Paolo

“…During the past 10 years, human biological material--body fluids, cells, tissues, intracellular substances or DNA--and the related data have become an…”
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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study by Koido, Kati, Malmgren, Charlotta Ingvoldstad, Pojskic, Lejla, Almos, Peter Z., Bergen, Sarah E., Borg, Isabella, Božina, Nada, Coviello, Domenico A., Degenhardt, Franziska, Ganoci, Lana, Jensen, Uffe B., Durand-Lennad, Louise, Laurent-Levinson, Claudine, McQuillin, Andrew, Navickas, Alvydas, Pace, Nikolai P., Paneque, Milena, Rietschel, Marcella, Grigoroiu-Serbanescu, Maria, Soller, Maria Johansson, Suvisaari, Jaana, Utkus, Algirdas, Van Assche, Evelien, Vissouze, Lily, Zuckerman, Shachar, Chaumette, Boris, Tammimies, Kristiina

“…Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric…”
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The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences by Divisato, Giuseppina, Scotto di Carlo, Federica, Pazzaglia, Laura, Rizzo, Riccardo, Coviello, Domenico A, Benassi, Maria Serena, Picci, Piero, Esposito, Teresa, Gianfrancesco, Fernando

“…Giant Cell Tumor of Bone (GCT) is a tumor characterized by neoplastic mesenchymal stromal cells and a high number of osteoclast-like multinucleated giant…”
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Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) by DEGIORGIO, Dario, COLOMBO, Carla, SEIA, Manuela, PORCARO, Luigi, COSTANTINO, Lucy, ZAZZERON, Laura, BORDO, Domenico, COVIELLO, Domenico A

“…Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal-recessive disorder due to mutations in the ATP-binding cassette, subfamily B,…”
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