Kinase Inhibitors in Genetic Diseases
D'Antona, Lucia, Amato, Rosario, Brescia, Carolina, Rocca, Valentina, Colao, Emma, Iuliano, Rodolfo, Blazer-Yost, Bonnie L, Perrotti, Nicola
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Journal Article
Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
Paduano, Francesco, Fabiani, Fernanda, Colao, Emma, Trapasso, Francesco, Perrotti, Nicola, Barbieri, Vito, Baudi, Francesco, Iuliano, Rodolfo
Published in Frontiers in genetics (01.09.2021)
Published in Frontiers in genetics (01.09.2021)
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Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome
Politi, Cristina, Grillone, Katia, Nocera, Donatella, Colao, Emma, Bellisario, Michelle Li, Loddo, Sara, Catino, Giorgia, Novelli, Antonio, Perrotti, Nicola, Rodolfo, Iuliano, Malatesta, Paola
Published in Genes (01.01.2024)
Published in Genes (01.01.2024)
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Journal Article
Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy
Paduano, Francesco, Colao, Emma, Fabiani, Fernanda, Rocca, Valentina, Dinatolo, Francesca, Dattola, Adele, D’Antona, Lucia, Amato, Rosario, Trapasso, Francesco, Baudi, Francesco, Perrotti, Nicola, Iuliano, Rodolfo
Published in Genes (21.07.2022)
Published in Genes (21.07.2022)
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Journal Article
The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults
Zagari, Maria Carmela, Chiarello, Paola, Iuliano, Stefano, D'Antona, Lucia, Rocca, Valentina, Colao, Emma, Perrotti, Nicola, Greco, Francesca, Iuliano, Rodolfo, Aversa, Antonio
Published in Genes (01.01.2023)
Published in Genes (01.01.2023)
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Journal Article
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
Brancati, Francesco, Camerota, Letizia, Colao, Emma, Vega-Warner, Virginia, Zhao, Xiangzhong, Zhang, Ruixiao, Bottillo, Irene, Castori, Marco, Caglioti, Alfredo, Sangiuolo, Federica, Novelli, Giuseppe, Perrotti, Nicola, Otto, Edgar A
Published in European journal of human genetics : EJHG (01.09.2018)
Published in European journal of human genetics : EJHG (01.09.2018)
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Journal Article
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
Bruni, Valentina, Spoleti, Cristina Barbara, La Barbera, Andrea, Dattilo, Vincenzo, Colao, Emma, Votino, Carmela, Bellacchio, Emanuele, Perrotti, Nicola, Giglio, Sabrina, Iuliano, Rodolfo
Published in Genes (10.09.2021)
Published in Genes (10.09.2021)
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Journal Article
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo
Published in Genes (08.05.2020)
Published in Genes (08.05.2020)
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Journal Article
A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5
Paduano, Francesco, Colao, Emma, Grillone, Teresa, Vismara, Marco Flavio Michele, Amato, Rosario, Nisticò, Steven, Mignogna, Chiara, Dastoli, Stefano, Fabiani, Fernanda, Zucco, Rossella, Trapasso, Francesco, Perrotti, Nicola, Iuliano, Rodolfo
Published in Genes (25.09.2021)
Published in Genes (25.09.2021)
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Journal Article
A novel ABCC6 variant causative of pseudoxanthoma elasticum
Contrò, Gianluca, Tallerico, Rossana, Dattilo, Vincenzo, Fabiani, Fernanda, Enzo, Maria Vittoria, Hladnik, Uros, Dastoli, Stefano, Nisticò, Steven Paul, Colao, Emma, Perrotti, Nicola, Iuliano, Rodolfo
Published in Human genome variation (20.06.2019)
Published in Human genome variation (20.06.2019)
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Journal Article
New SLC12A3 disease causative mutation of Gitelman’s syndrome
Grillone, Teresa, Menniti, Miranda, Bombardiere, Francesco, Vismara, Marco Flavio Michele, Belviso, Stefania, Fabiani, Fernanda, Perrotti, Nicola, Iuliano, Rodolfo, Colao, Emma
Published in World journal of nephrology (06.11.2016)
Published in World journal of nephrology (06.11.2016)
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Journal Article
The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3
Vismara, Marco Favio Michele, Colao, Emma, Fabiani, Fernanda, Bombardiere, Francesco, Tamburrini, Oscar, Alessio, Caterina, Manti, Francesco, Pelaia, Gerolamo, Romeo, Pasquale, Iuliano, Rodolfo, Perrotti, Nicola
Published in Respiratory medicine case reports (01.01.2015)
Published in Respiratory medicine case reports (01.01.2015)
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Journal Article
A Case of Premature Ovarian Failure in a 33-Year-Old Woman
Colao, Emma, Granata, Teresa, Vismara, Marco F. M., Bombardiere, Francesco, Nocera, Donatella, Luciano, Elisa, Perrotti, Nicola, Malatesta, Paola
Published in Case reports in genetics (01.01.2013)
Published in Case reports in genetics (01.01.2013)
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Journal Article
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
Usmani, Muhammad A., Ahmed, Zubair M., Magini, Pamela, Pienkowski, Victor Murcia, Rasmussen, Kristen J., Hernan, Rebecca, Rasheed, Faiza, Hussain, Mureed, Shahzad, Mohsin, Lanpher, Brendan C., Niu, Zhiyv, Lim, Foong-Yen, Pippucci, Tommaso, Ploski, Rafal, Kraus, Verena, Matuszewska, Karolina, Palombo, Flavia, Kianmahd, Jessica, Martinez-Agosto, Julian A., Lee, Hane, Colao, Emma, Motazacker, M. Mahdi, Brigatti, Karlla W., Puffenberger, Erik G., Riazuddin, S. Amer, Gonzaga-Jauregui, Claudia, Chung, Wendy K., Wagner, Matias, Schultz, Matthew J., Seri, Marco, Kievit, Anneke J.A., Perrotti, Nicola, Klein Wassink-Ruiter, J.S., van Bokhoven, Hans, Riazuddin, Sheikh, Riazuddin, Saima
Published in American journal of human genetics (01.07.2021)
Published in American journal of human genetics (01.07.2021)
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Journal Article
820 VARIABLE EXPRESSIVITY OF SCN5A MUTATION IN A FAMILY WITH CARDIAC DYSFUNCTION AND SUSPECTED BRUGADA SYNDROME
Malizia, Biagio, Curcio, Antonio, Rodolfo, Iuliano, Colao, Emma, Pingitore, Elisabetta, Cardia, Giada, Romano, Letizia Rosa, Pasceri, Eugenia, Aquila, Iolanda, Indolfi, Ciro
Published in European heart journal supplements (15.12.2022)
Published in European heart journal supplements (15.12.2022)
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Flavonoid supplements increase neurotrophin activity to modulate inflammation in retinal genetic diseases
Kiani, Aysha Karim, Falsini, Benedetto, Ziccardi, Lucia, Gusson, Elena, Mangialavori, Domenica, Allegrini, Francesca, Colao, Emma, Bertelli, Matteo
Published in Acta bio-medica : Atenei Parmensis (09.11.2020)
Published in Acta bio-medica : Atenei Parmensis (09.11.2020)
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Journal Article
Internet Use and Access, Behavior, Cyberbullying, and Grooming: Results of an Investigative Whole City Survey of Adolescents
Vismara, Marco Flavio Michele, Toaff, Joseph, Pulvirenti, Giuliana, Settanni, Chiara, Colao, Emma, Lavano, Serena Marianna, Cemicetti, Riccardo, Cotugno, David, Perrotti, Giuseppe, Meschesi, Viviana, Montera, Roberto, Zepponi, Barbara, Rapetto, Umberto, Marotta, Rosa
Published in Interactive journal of medical research (29.08.2017)
Published in Interactive journal of medical research (29.08.2017)
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Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing
Nucara, Stefania, Colao, Emma, Mangone, Graziella, Baudi, Francesco, Fabiani, Fernanda, Nocera, Donatella, Passafaro, Giuseppe, Longo, Teresa, Laria, Anna Elisa, Malatesta, Paola, Amato, Rosario, Trapasso, Francesco, Perrotti, Nicola
Published in Dermatology online journal (15.01.2011)
Published in Dermatology online journal (15.01.2011)
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