Search Results - "Ferrero, Giovanni Battista"

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol by Mussa, Alessandro, MD, PhD, Molinatto, Cristina, MD, Baldassarre, Giuseppina, MD, Riberi, Evelise, PhD, Russo, Silvia, PhD, Larizza, Lidia, MD, PhD, Riccio, Andrea, MD, PhD, Ferrero, Giovanni Battista, MD, PhD

“…Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM),…”
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Syndromic Disorders Caused by Disturbed Human Imprinting by Carli, Diana, Riberi, Evelise, Ferrero, Giovanni Battista, Mussa, Alessandro

“…Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive…”
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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases by Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista

“…A cluster of imprinted genes at chromosome 11p15.5 is associated with the growth disorders, Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome…”
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Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome by Riccio, Andrea, Sparago, Angela, Cerrato, Flavia, Vernucci, Maria, Ferrero, Giovanni Battista, Silengo, Margherita Cirillo

“…The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that…”
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Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot by Carli, Diana, Moroni, Alice, Eleonora, Di Gregorio, Zonta, Andrea, Montin, Davide, Licciardi, Francesco, Aidala, Enrico, Bordese, Roberto, Carlo, Pace Napoleone, Brusco, Alfredo, Giovanni Battista, Ferrero, Mussa, Alessandro

“…The 22q11.2 microdeletion syndrome (22q11.2 DGS) is characterized by an extreme intrafamilial and interfamilial variability. The main clinical features are…”
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Ineffective Erythropoiesis in β-Thalassaemia: Key Steps and Therapeutic Options by Drugs by Longo, Filomena, Piolatto, Andrea, Ferrero, Giovanni Battista, Piga, Antonio

“…β-thalassaemia is a rare genetic condition caused by mutations in the β-globin gene that result in severe iron-loading anaemia, maintained by a detrimental…”
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

“…AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially…”
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Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome by Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, Ferrero, Giovanni Battista

“…The emerging association of assisted reproductive techniques (ART) with imprinting disorders represents a major issue in the scientific debate on infertility…”
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Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring by Piolatto, Andrea, Berchialla, Paola, Allegra, Sarah, De Francia, Silvia, Ferrero, Giovanni Battista, Piga, Antonio, Longo, Filomena

“…Deferasirox (DFX) is the newest among three different chelators available to treat iron overload in iron-loading anaemias, firstly released as Dispersible…”
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The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum by Mussa, Alessandro, Duffy, Kelly A., Carli, Diana, Griff, Jessica R., Fagiano, Riccardo, Kupa, Jonida, Brodeur, Garrett M., Ferrero, Giovanni Battista, Kalish, Jennifer M.

“…Purpose It is well documented that patients with Beckwith–Wiedemann spectrum (BWS) have a significantly higher risk of developing Wilms tumor (WT) than the…”
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Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation by Melo, Uirá Souto, Jatzlau, Jerome, Prada-Medina, Cesar A., Flex, Elisabetta, Hartmann, Sunhild, Ali, Salaheddine, Schöpflin, Robert, Bernardini, Laura, Ciolfi, Andrea, Moeinzadeh, M-Hossein, Klever, Marius-Konstantin, Altay, Aybuge, Vallecillo-García, Pedro, Carpentieri, Giovanna, Delledonne, Massimo, Ort, Melanie-Jasmin, Schwestka, Marko, Ferrero, Giovanni Battista, Tartaglia, Marco, Brusco, Alfredo, Gossen, Manfred, Strunk, Dirk, Geißler, Sven, Mundlos, Stefan, Stricker, Sigmar, Knaus, Petra, Giorgio, Elisa, Spielmann, Malte

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Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation by Melo, Uirá Souto, Jatzlau, Jerome, Prada-Medina, Cesar A., Flex, Elisabetta, Hartmann, Sunhild, Ali, Salaheddine, Schöpflin, Robert, Bernardini, Laura, Ciolfi, Andrea, Moeinzadeh, M-Hossein, Klever, Marius-Konstantin, Altay, Aybuge, Vallecillo-García, Pedro, Carpentieri, Giovanna, Delledonne, Massimo, Ort, Melanie-Jasmin, Schwestka, Marko, Ferrero, Giovanni Battista, Tartaglia, Marco, Brusco, Alfredo, Gossen, Manfred, Strunk, Dirk, Geißler, Sven, Mundlos, Stefan, Stricker, Sigmar, Knaus, Petra, Giorgio, Elisa, Spielmann, Malte

“…Heterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ and WNT are known key…”
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Hydroxyurea Pharmacokinetic Evaluation in Patients with Sickle Cell Disease by Di Grazia, Daniela, Mirabella, Cristina, Chiara, Francesco, Caudana, Maura, Shelton Agar, Francesco Maximillian Anthony, Zanatta, Marina, Allegra, Sarah, Bertello, Jenni, Voi, Vincenzo, Ferrero, Giovanni Battista, Abbadessa, Giuliana, De Francia, Silvia

“…Hydroxyurea (HU), also known as hydroxycarbamide, is an oral ribonucleotide reductase inhibitor. In 1999, the United States Food and Drug Administration (FDA)…”
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Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib by Gazzin, Andrea, Fornari, Federico, Cardaropoli, Simona, Carli, Diana, Tartaglia, Marco, Ferrero, Giovanni Battista, Mussa, Alessandro

“…The RASopathies are a group of syndromes caused by genetic variants that affect the RAS-MAPK signaling pathway, which is essential for cell response to diverse…”
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Prevalence of beckwith-wiedemann syndrome in North West of Italy by Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Chiesa, Nicoletta, Molinatto, Cristina, Selicorni, Angelo, Richiardi, Lorenzo, Larizza, Lidia, Silengo, Margherita Cirillo, Riccio, Andrea, Ferrero, Giovanni Battista

“…ABSTRACT Although Beckwith–Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the…”
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Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question by Quarello, Paola, Perotti, Daniela, Carli, Diana, Giorgio, Elisa, Sirchia, Fabio, Brusco, Alfredo, Ferrero, Giovanni Battista, Mussa, Alessandro, Spadea, Manuela, Ciceri, Sara, Spreafico, Filippo, Fagioli, Franca

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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant by Borghesi, Alessandro, Mencarelli, Maria Antonietta, Memo, Luigi, Ferrero, Giovanni Battista, Bartuli, Andrea, Genuardi, Maurizio, Stronati, Mauro, Villani, Alberto, Renieri, Alessandra, Corsello, Giovanni

“…The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening…”
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The Influence of Cardiovascular Risk Factors and Hypogonadism on Cardiac Outcomes in an Aging Population of Beta-Thalassemia Patients by Barbero, Umberto, Ajassa, Matteo, Gaglioti, Carmen Maria, Piga, Antonio, Ferrero, Giovanni Battista, Longo, Filomena

“…Beta-thalassemia major (β-TM) is a hereditary genetic disease worsened by many comorbidities due to transfusion-related iron despite chelation therapy. Since…”
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Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome by Bergallo, Massimiliano, Galliano, Ilaria, Montanari, Paola, Calvi, Cristina, Daprà, Valentina, Carli, Diana, Russo, Silvia, Mussa, Alessandro, Ferrero, Giovanni Battista

“…Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder predisposing to tumorigenesis caused by abnormal expression or function of imprinted…”
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Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height by Libraro, Annachiara, D'Ascanio, Vito, Cappa, Marco, Chiarito, Mariangela, Digilio, Maria Cristina, Einaudi, Silvia, Grandone, Anna, Maghnie, Mohamad, Mazzanti, Laura, Mussa, Alessandro, Patti, Giuseppa, Scarano, Emanuela, Spinuzza, Antonietta, Vannelli, Silvia, Wasniewska, Malgorzata Gabriela, Ferrero, Giovanni Battista, Faienza, Maria Felicia

“…Growth impairment is a common manifestation in Noonan syndrome (NS). Recombinant human GH (rhGH) treatment has been shown to increase growth and adult height…”
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