Non-Invasive Prenatal Screening from a Genetic Counseling Prospective: Pre and Post-Genetic Counseling Regarding Rare Chromosomal Abnormalities and Incidental Finding von Matteo, Della Monica, Lorenzo, Cipriano, Raffaele, Piscopo, Carmelo, Piscopo

Volltext

Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation von Cipriano, Lorenzo, Piscopo, Raffaele, Aiello, Chiara, Novelli, Antonio, Iolascon, Achille, Piscopo, Carmelo

Volltext

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature von Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela

Volltext

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 von Andolfo, Immacolata, Russo, Roberta, Lasorsa, Vito Alessandro, Cantalupo, Sueva, Rosato, Barbara Eleni, Bonfiglio, Ferdinando, Frisso, Giulia, Abete, Pasquale, Cassese, Gian Marco, Servillo, Giuseppe, Esposito, Gabriella, Gentile, Ivan, Piscopo, Carmelo, Villani, Romolo, Fiorentino, Giuseppe, Cerino, Pellegrino, Buonerba, Carlo, Pierri, Biancamaria, Zollo, Massimo, Iolascon, Achille, Capasso, Mario

Volltext

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype von Genovesi, Maria Luce, Torres, Barbara, Goldoni, Marina, Salvo, Eliana, Cesario, Claudia, Majolo, Massimo, Mazza, Tommaso, Piscopo, Carmelo, Bernardini, Laura

Volltext

De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review von Siano, Maria Anna, De Maggio, Ilaria, Petillo, Roberta, Cocciadiferro, Dario, Agolini, Emanuele, Majolo, Massimo, Novelli, Antonio, Della Monica, Matteo, Piscopo, Carmelo

Volltext

An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome von Oro, Maria, Tarsitano, Marina, Rivieccio, Maria, Piscopo, Carmelo, Petti, Maria Teresa, Bukvic, Nenad, Della Monica, Matteo

Volltext

Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 von Zguro, Kristina, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Daga, Sergio, Leoncini, Roberto, Galasso, Lucrezia, Cirianni, Michele, Rusconi, Stefano, Siano, Matteo, Francisci, Daniela, Schiaroli, Elisabetta, Luchi, Sauro, Morelli, Giovanna, Martinelli, Enrico, Girardis, Massimo, Busani, Stefano, Parisi, Saverio Giuseppe, Panese, Sandro, Piscopo, Carmelo, Capasso, Mario, Tacconi, Danilo, Spertilli Raffaelli, Chiara, Giliberti, Annarita, Gori, Giulia, Katsikis, Peter D, Lorubbio, Maria, Calzoni, Paola, Ognibene, Agostino, Bocchia, Monica, Tozzi, Monica, Bucalossi, Alessandro, Marotta, Giuseppe, Furini, Simone, Gen-Covid Multicenter Study, Renieri, Alessandra, Fallerini, Chiara

Volltext

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis von Fioretti, Tiziana, Martora, Fabrizio, De Maggio, Ilaria, Ambrosio, Adelaide, Piscopo, Carmelo, Vallone, Sabrina, Amato, Felice, Passaro, Diego, Acquaviva, Fabio, Gaudiello, Francesca, Di Girolamo, Daniela, Maiolo, Valeria, Zarrilli, Federica, Esposito, Speranza, Vitiello, Giuseppina, Auricchio, Luigi, Sammarco, Elena, Brasi, Daniele De, Petillo, Roberta, Gambale, Antonella, Cattaneo, Fabio, Ammendola, Rosario, Nappa, Paola, Esposito, Gabriella

Volltext

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship von Iolascon, Achille, Russo, Roberta, Esposito, Maria Rosaria, Asci, Roberta, Piscopo, Carmelo, Perrotta, Silverio, Fénéant-Thibault, Madeleine, Garçon, Loïc, Delaunay, Jean

Volltext

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis von Iolascon, Achille, De Falco, Luigia, Borgese, Franck, Esposito, Maria Rosaria, Avvisati, Rosa Anna, Izzo, Pietro, Piscopo, Carmelo, Guizouarn, Helene, Biondani, Andrea, Pantaleo, Antonella, De Franceschi, Lucia

Volltext

Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review von Arghir, Aurora, Papuc, Sorina Mihaela, Tutulan‐Cunita, Andreea‐Cristina, Erbescu, Alina, Loddo, Sara, Genovese, Silvia, Ciocca, Laura, Goldoni, Marina, Piscopo, Carmelo, Bernardini, Laura, Novelli, Antonio, Budisteanu, Magdalena

Volltext

A first update on mapping the human genetic architecture of COVID-19 von Pathak, Gita A., Karjalainen, Juha, Stevens, Christine, Neale, Benjamin M., Daly, Mark, Ganna, Andrea, Andrews, Shea J., Kanai, Masahiro, Cordioli, Mattia, Polimanti, Renato, Harerimana, Nadia, Pirinen, Matti, Liao, Rachel G., Chwialkowska, Karolina, Trankiem, Amy, Balaconis, Mary K., Nguyen, Huy, Solomonson, Matthew, Veerapen, Kumar, Wolford, Brooke, Roberts, Genevieve, Park, Danny, Ball, Catherine A., Coignet, Marie, McCurdy, Shannon, Knight, Spencer, Partha, Raghavendran, Rhead, Brooke, Zhang, Miao, Berkowitz, Nathan, Gaddis, Michael, Noto, Keith, Ruiz, Luong, Pavlovic, Milos, Hong, Eurie L., Rand, Kristin, Girshick, Ahna, Guturu, Harendra, Baltzell, Asher Haug, Niemi, Mari E. K., Rahmouni, Souad, Guntz, Julien, Beguin, Yves, Pigazzini, Sara, Nkambule, Lindokuhle, Georges, Michel, Moutschen, Michel, Misset, Benoit, Darcis, Gilles, Guiot, Julien, Azarzar, Samira, Gofflot, Stéphanie, Claassen, Sabine, Malaise, Olivier, Huynen, Pascale, Meuris, Christelle, Thys, Marie, Jacques, Jessica, Léonard, Philippe, Frippiat, Frederic, Giot, Jean-Baptiste, Sauvage, Anne-Sophie, Frenckell, Christian Von, Belhaj, Yasmine, Lambermont, Bernard, Nakanishi, Tomoko, Morrison, David R., Mooser, Vincent, Richards, J. Brent, Butler-Laporte, Guillaume, Forgetta, Vincenzo, Li, Rui, Ghosh, Biswarup, Laurent, Laetitia, Belisle, Alexandre, Henry, Danielle, Abdullah, Tala, Adeleye, Olumide, Mamlouk, Noor, Kimchi, Nofar, Afrasiabi, Zaman, Rezk, Nardin, Vulesevic, Branka, Bouab, Meriem, Guzman, Charlotte, Petitjean, Louis, Tselios, Chris, Xue, Xiaoqing, Afilalo, Jonathan, Afilalo, Marc, Oliveira, Maureen, Brenner, Bluma, Brassard, Nathalie, Durand, Madeleine, Schurr, Erwin, Lepage, Pierre, Ragoussis, Jiannis, Auld, Daniel, Chassé, Michaël, Kaufmann, Daniel E.

Volltext

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population von Benetti, Elisa, Tita, Rossella, Spiga, Ottavia, Ciolfi, Andrea, Birolo, Giovanni, Bruselles, Alessandro, Doddato, Gabriella, Giliberti, Annarita, Marconi, Caterina, Musacchia, Francesco, Pippucci, Tommaso, Torella, Annalaura, Trezza, Alfonso, Valentino, Floriana, Baldassarri, Margherita, Brusco, Alfredo, Asselta, Rosanna, Bruttini, Mirella, Furini, Simone, Seri, Marco, Nigro, Vincenzo, Matullo, Giuseppe, Tartaglia, Marco, Mari, Francesca, Renieri, Alessandra, Pinto, Anna Maria

Volltext

A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity von Cipriano, Lorenzo, Russo, Roberta, Andolfo, Immacolata, Manno, Mariangela, Piscopo, Raffaele, Iolascon, Achille, Piscopo, Carmelo

Volltext

New Insights in 9q21.13 Microdeletion Syndrome: Genotype-Phenotype Correlation of 28 Patients von De Falco, Alessandro, Iolascon, Achille, Ascione, Flora, Piscopo, Carmelo

Volltext

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study von Fallerini, Chiara, Daga, Sergio, Mantovani, Stefania, Benetti, Elisa, Picchiotti, Nicola, Francisci, Daniela, Paciosi, Francesco, Schiaroli, Elisabetta, Baldassarri, Margherita, Fava, Francesca, Palmieri, Maria, Ludovisi, Serena, Castelli, Francesco, Quiros-Roldan, Eugenia, Vaghi, Massimo, Rusconi, Stefano, Siano, Matteo, Bandini, Maria, Spiga, Ottavia, Capitani, Katia, Furini, Simone, Mari, Francesca, Renieri, Alessandra, Mondelli, Mario U, Frullanti, Elisa

Volltext

Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation von Cipriano, Lorenzo, Ferrigno, Rosario, Andolfo, Immacolata, Russo, Roberta, Cioffi, Daniela, Savanelli, Maria Cristina, Pellino, Valeria, Klain, Antonella, Iolascon, Achille, Piscopo, Carmelo

Volltext

Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload von Esposito, Federica Maria, D'Onofrio, Vanessa, Rosato, Barbara Eleni, Marra, Roberta, Nostroso, Antonella, Iscaro, Anthony, Manno, Mariangela, Ribersani, Michela, Giorgi, Virginia, Celia, Renata, Piscopo, Carmelo, Iolascon, Achille, Russo, Roberta, Andolfo, Immacolata

Volltext

Exploring the Clinical Spectrum of HUWE1-Related Neurodevelopmental Disorder: Five New Patients and Literature Review von De Falco, Alessandro, Minale, Elia Marco Paolo, Meossi, Camilla, Pagano, Stefano, Trovato, Rosanna, Agolini, Emanuele, Mucciolo, Mafalda, Novelli, Antonio, Bartolini, Emanuele, Santorelli, Filippo Maria, Piscopo, Carmelo

Volltext