Search Results - "Colao, Emma"

Kinase Inhibitors in Genetic Diseases by D'Antona, Lucia, Amato, Rosario, Brescia, Carolina, Rocca, Valentina, Colao, Emma, Iuliano, Rodolfo, Blazer-Yost, Bonnie L, Perrotti, Nicola

“…Over the years, several studies have shown that kinase-regulated signaling pathways are involved in the development of rare genetic diseases. The study of the…”
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Adult-Onset Case of Female Idiopathic Hypogonadotropic Hypogonadism and Ataxia: Genetic Background by Chiarello, Paola, Seminara, Giuseppe, Bossio, Sabrina, Rocca, Valentina, Colao, Emma, Iuliano, Rodolfo, Aversa, Antonio

“…Adult-onset cases of idiopathic hypogonadotropic hypogonadism (IHH) are characterized by partial or normal puberty development until adolescence and by the…”
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Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome by Paduano, Francesco, Fabiani, Fernanda, Colao, Emma, Trapasso, Francesco, Perrotti, Nicola, Barbieri, Vito, Baudi, Francesco, Iuliano, Rodolfo

“…Li–Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53…”
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Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy by 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

“…Germline pathogenic variants (PVs) in oncogenes and tumour suppressor genes are responsible for 5 to 10% of all diagnosed cancers, which are commonly known as…”
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Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome by 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

“…A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal…”
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A novel ABCC6 variant causative of pseudoxanthoma elasticum by Contrò, Gianluca, Tallerico, Rossana, Dattilo, Vincenzo, Fabiani, Fernanda, Enzo, Maria Vittoria, Hladnik, Uros, Dastoli, Stefano, Nisticò, Steven Paul, Colao, Emma, Perrotti, Nicola, Iuliano, Rodolfo

“…Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6 . We describe two siblings showing typical skin lesions and…”
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New SLC12A3 disease causative mutation of Gitelman’s syndrome by Grillone, Teresa, Menniti, Miranda, Bombardiere, Francesco, Vismara, Marco Flavio Michele, Belviso, Stefania, Fabiani, Fernanda, Perrotti, Nicola, Iuliano, Rodolfo, Colao, Emma

“…Gitelman’s syndrome(GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the…”
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The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3 by Vismara, Marco Favio Michele, Colao, Emma, Fabiani, Fernanda, Bombardiere, Francesco, Tamburrini, Oscar, Alessio, Caterina, Manti, Francesco, Pelaia, Gerolamo, Romeo, Pasquale, Iuliano, Rodolfo, Perrotti, Nicola

“…Abstract Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of calcium phosphate gradually accumulate in alveoli. Loss…”
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A Case of Premature Ovarian Failure in a 33-Year-Old Woman by Colao, Emma, Granata, Teresa, Vismara, Marco F. M., Bombardiere, Francesco, Nocera, Donatella, Luciano, Elisa, Perrotti, Nicola, Malatesta, Paola

“…Objective. To assess aetiology of a POF in a 33-year-old woman and, if possible, plan a cure. Design. Case report. Setting. medical genetics diagnostic unit in…”
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Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing by Rocca, Valentina, Lo Feudo, Elisa, Dinatolo, Francesca, Lavano, Serena Marianna, Bilotta, Anna, Amato, Rosario, D’Antona, Lucia, Trapasso, Francesco, Baudi, Francesco, Colao, Emma, Perrotti, Nicola, Paduano, Francesco, Iuliano, Rodolfo

“…Hereditary breast cancer accounts for 5–10% of all cases, with pathogenic variants in BRCA1/2 and other susceptibility genes playing a crucial role. This study…”
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De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy by 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

“…Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons…”
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820 VARIABLE EXPRESSIVITY OF SCN5A MUTATION IN A FAMILY WITH CARDIAC DYSFUNCTION AND SUSPECTED BRUGADA SYNDROME by Malizia, Biagio, Curcio, Antonio, Rodolfo, Iuliano, Colao, Emma, Pingitore, Elisabetta, Cardia, Giada, Romano, Letizia Rosa, Pasceri, Eugenia, Aquila, Iolanda, Indolfi, Ciro

“…Abstract Background Inherited arrhythmogenic diseases (IADs) represent a group of life-threatening genetic cardiomyopathies that predispose young individuals…”
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7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability by Paduano, Francesco, Colao, Emma, Loddo, Sara, Orlando, Valeria, Trapasso, Francesco, Novelli, Antonio, Perrotti, Nicola, Iuliano, Rodolfo

“…Copy number variations (CNVs) play a key role in the pathogenesis of several diseases, including a wide range of neurodevelopmental disorders. Here, we…”
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The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults by Zagari, Maria Carmela, Chiarello, Paola, Iuliano, Stefano, D'Antona, Lucia, Rocca, Valentina, Colao, Emma, Perrotti, Nicola, Greco, Francesca, Iuliano, Rodolfo, Aversa, Antonio

“…Loss of function mutations in the gene could determine X-linked dominant hypophosphatemia. This is the most common form of genetic rickets. It is characterized…”
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A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions by Bruni, Valentina, Spoleti, Cristina Barbara, La Barbera, Andrea, Dattilo, Vincenzo, Colao, Emma, Votino, Carmela, Bellacchio, Emanuele, Perrotti, Nicola, Giglio, Sabrina, Iuliano, Rodolfo

“…Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in . Most of the variants found in patients with ACG2…”
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Novel Mutation in the CHRDL1 Gene Detected in Patients With Megalocornea by Mangialavori, Domenica, Colao, Emma, Carnevali, Adriano, Bruzzichessi, Donatella, Grillone, Teresa, Perrotti, Nicola, Iuliano, Rodolfo, Scorcia, Vincenzo

“…PURPOSE:The aim of this study was to determine the mutation associated with X-linked megalocornea (MGC1) found in 2 patients from the same area in southern…”
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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 by Politi, Cristina, Grillone, Katia, Nocera, Donatella, Colao, Emma, Bellisario, Michelle Li, Loddo, Sara, Catino, Giorgia, Novelli, Antonio, Perrotti, Nicola, Rodolfo, Iuliano, Malatesta, Paola

“…The translocation of the testis-determining factor, the SRY gene, from the Y to the X chromosome is a rare event that causes abnormalities in gonadal…”
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Flavonoid supplements increase neurotrophin activity to modulate inflammation in retinal genetic diseases by Kiani, Aysha Karim, Falsini, Benedetto, Ziccardi, Lucia, Gusson, Elena, Mangialavori, Domenica, Allegrini, Francesca, Colao, Emma, Bertelli, Matteo

“…Retinal degenerative disorders induce loss of photoreceptors associated with inflammation, and negative remodeling and plasticity of neural retina. Retinal…”
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A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in KRT5 by 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

“…Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by…”
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Internet Use and Access, Behavior, Cyberbullying, and Grooming: Results of an Investigative Whole City Survey of Adolescents by 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

“…According to the Digital Agenda for Europe, the way children use the Internet and mobile technologies has changed dramatically in the past years. The aims of…”
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