Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

por Lantieri, Francesca, Malacarne, Michela, Gimelli, Stefania, Santamaria, Giuseppe, Coviello, Domenico, Ceccherini, Isabella
Publicado 2017

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C

por Capitini, Claudia, Feo, Federica, Caciotti, Anna, Tonin, Rodolfo, Lulli, Matteo, Coviello, Domenico, Guerrini, Renzo, Calamai, Martino, Morrone, Amelia
Publicado 2022

NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint

por Conteduca, Giuseppina, Cangelosi, Davide, Coco, Simona, Malacarne, Michela, Baldo, Chiara, Arado, Alessia, Pinto, Rute, Testa, Barbara, Coviello, Domenico A.
Publicado 2022

Inflammatory priming with IL-1β promotes the immunomodulatory behavior of adipose derived stem cells

por Colombini, Alessandra, Libonati, Francesca, Cangelosi, Davide, Lopa, Silvia, De Luca, Paola, Coviello, Domenico Antonio, Moretti, Matteo, de Girolamo, Laura
Publicado 2022

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

por Gatta, Valentina, Gennaro, Elena, Franchi, Sara, Cecconi, Massimiliano, Antonucci, Ivana, Tommasi, Marco, Palka, Giandomenico, Coviello, Domenico, Stuppia, Liborio, Grasso, Marina
Publicado 2013

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease

por Sayed Amr, Khalda, El-Bassyouni, Hala T., Abdel Hady, Sawsan, Mostafa, Mostafa I., Mehrez, Mennat I., Coviello, Domenico, El-Kamah, Ghada Y.
Publicado 2021

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome

por Cabrita Pinto, Rute Luísa, Viaggi, Silvia, Canale, Edoardo, Martinez Popple, Marina, Capra, Valeria, Conteduca, Giuseppina, Testa, Barbara, Coviello, Domenico, Covone, Angela Elvira
Publicado 2023

European registration process for Clinical Laboratory Geneticists in genetic healthcare

por Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina
Publicado 2017

The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences

por Divisato, Giuseppina, di Carlo, Federica Scotto, Pazzaglia, Laura, Rizzo, Riccardo, Coviello, Domenico A., Benassi, Maria Serena, Picci, Piero, Esposito, Teresa, Gianfrancesco, Fernando
Publicado 2017

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

por Fernández, Esperanza, Gennaro, Elena, Pirozzi, Filomena, Baldo, Chiara, Forzano, Francesca, Turolla, Licia, Faravelli, Francesca, Gastaldo, Denise, Coviello, Domenico, Grasso, Marina, Bagni, Claudia
Publicado 2018

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

por Testa, Barbara, Conteduca, Giuseppina, Grasso, Marina, Cecconi, Massimiliano, Lantieri, Francesca, Baldo, Chiara, Arado, Alessia, Andraghetti, Laura, Malacarne, Michela, Milani, Donatella, Coviello, Domenico
Publicado 2023

Culture Medium Supplements Derived from Human Platelet and Plasma: Cell Commitment and Proliferation Support

por Muraglia, Anita, Nguyen, Van Thi, Nardini, Marta, Mogni, Massimo, Coviello, Domenico, Dozin, Beatrice, Strada, Paolo, Baldelli, Ilaria, Formica, Matteo, Cancedda, Ranieri, Mastrogiacomo, Maddalena
Publicado 2017

Diagnostic yield and predictive value on left ventricular remodelling of genetic testing in dilated cardiomyopathy

por Bertero, Edoardo, Fracasso, Giulia, Eustachi, Virginia, Coviello, Domenico, Cecconi, Massimiliano, Giovinazzo, Stefano, Toma, Matteo, Merlo, Marco, Sinagra, Gianfranco, Porto, Italo, Ameri, Pietro, Canepa, Marco
Publicado 2023

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

por Liehr, Thomas, Carreira, Isabel M., Balogh, Zsofia, Garrido, Elena Dominguez, Verdorfer, Irmgard, Coviello, Domenico A., Florentin, Lina, Scheffer, Hans, Rincic, Martina, Williams, Heather E.
Publicado 2019

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

por Lantieri, Francesca, Gimelli, Stefania, Viaggi, Chiara, Stathaki, Elissavet, Malacarne, Michela, Santamaria, Giuseppe, Grossi, Alice, Mosconi, Manuela, Sloan-Béna, Frédérique, Prato, Alessio Pini, Coviello, Domenico, Ceccherini, Isabella
Publicado 2019

High-Throughput Gene and Protein Analysis Revealed the Response of Disc Cells to Vitamin D, Depending on the VDR FokI Variants

por Colombini, Alessandra, De Luca, Paola, Cangelosi, Davide, Perucca Orfei, Carlotta, Ragni, Enrico, Viganò, Marco, Malacarne, Michela, Castagnetta, Mauro, Brayda-Bruno, Marco, Coviello, Domenico, de Girolamo, Laura
Publicado 2021

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

por 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.
Publicado 2023

Incidental Detection of a Chromosomal Aberration by Array-CGH in an Early Prenatal Diagnosis for Monogenic Disease on Coelomic Fluid

por Vinciguerra, Margherita, Leto, Filippo, Cassarà, Filippo, Tartaglia, Viviana, Malacarne, Michela, Coviello, Domenico, Cigna, Valentina, Orlandi, Emanuela, Picciotto, Francesco, Cucinella, Gaspare, Salzano, Emanuela, Piccione, Maria, Maggio, Aurelio, Giambona, Antonino
Publicado 2022

The human amniotic fluid stem cell secretome effectively counteracts doxorubicin-induced cardiotoxicity

por Lazzarini, Edoardo, Balbi, Carolina, Altieri, Paola, Pfeffer, Ulrich, Gambini, Elisa, Canepa, Marco, Varesio, Luigi, Bosco, Maria Carla, Coviello, Domenico, Pompilio, Giulio, Brunelli, Claudio, Cancedda, Ranieri, Ameri, Pietro, Bollini, Sveva
Publicado 2016

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

por Poeta, Loredana, Malacarne, Michela, Padula, Agnese, Drongitis, Denise, Verrillo, Lucia, Lioi, Maria Brigida, Chiariello, Andrea M., Bianco, Simona, Nicodemi, Mario, Piccione, Maria, Salzano, Emanuela, Coviello, Domenico, Miano, Maria Giuseppina
Publicado 2022