Search Results - "Zampino, Giuseppe"

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure by Leoni, Chiara, MD, Onesimo, Roberta, MD, Giorgio, Valentina, MD, Diamanti, Antonella, MD, Giorgio, Daniela, RD, Martini, Lucilla, MD, Rossodivita, Aurora, MD, Tartaglia, Marco, PhD, Zampino, Giuseppe, MD

“…Costello syndrome is a rare multisystem disorder caused by mutations in the proto-oncogene HRAS . Failure to thrive is one of its cardinal clinical features…”
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Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review by Leoni, Chiara, Blandino, Rita, Delogu, Angelica Bibiana, De Rosa, Gabriella, Onesimo, Roberta, Verusio, Valeria, Marino, Maria Vittoria, Lanza, Gaetano Antonio, Rigante, Donato, Tartaglia, Marco, Zampino, Giuseppe

“…Congenital heart disease (CHD) and hypertrophic cardiomyopathy (HCM) are common features in patients affected by RASopathies. The aim of this study was to…”
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Embryopathy Following Maternal Biliopancreatic Diversion: Is Bariatric Surgery Really Safe? by Onesimo, Roberta, Proli, Francesco, Leoni, Chiara, Contaldo, Ilaria, Salerni, Annabella, Conti, Guido, Tartaglia, Marco, Zampino, Giuseppe

“…Pregnancy after bariatric surgery is usually considered safe. Recently, a few studies reported that bariatric surgery represents a risk factor for birth…”
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Short- and mid-term multidisciplinary outcomes of newborns exposed to SARS-CoV-2 in utero or during the perinatal period: preliminary findings by Buonsenso, Danilo, Costa, Simonetta, Giordano, Lucia, Priolo, Francessca, Colonna, Arianna Turriziani, Morini, Sofia, Sbarbati, Martina, Pata, Davide, Acampora, Anna, Conti, Guido, Crudo, Fabrizio, Cantiani, Alessandro, Martina, Bianca Maria, Amorelli, Giulia Maria, Orazi, Lorenzo, Petrianni, Maria, Ricci, Daniela, Lanzone, Antonio, Sanguinetti, Maurizio, Cattani, Paola, Sali, Michela, Romeo, Domenico, Zampino, Giuseppe, Vento, Giovanni, Valentini, Piero

“…The long-term outcomes of newborns exposed to SARS-CoV-2 infection in utero or during the first hours of life are still unknown. We performed a single-center,…”
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Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status by Leoni, Chiara, Romeo, Domenico Marco, Pelliccioni, Michele, Di Già, Mariangela, Onesimo, Roberta, Giorgio, Valentina, Flex, Elisabetta, Tedesco, Marta, Tartaglia, Marco, Rigante, Donato, Valassina, Antonio, Zampino, Giuseppe

“…Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies…”
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Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia by Calandrelli, Rosalinda, Pilato, Fabio, Massimi, Luca, Onesimo, Roberta, D'Apolito, Gabriella, Tenore, Lorenzo, Leoni, Chiara, Zampino, Giuseppe, Colosimo, Cesare

“…Background and Purpose Whole‐spine magnetic resonance imaging (MRI) studies, to identify structural abnormalities associated with the development of…”
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair by Gelb, Bruce D, Tartaglia, Marco, Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A, Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C, Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B, Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo

“…N-myristoylation is a common form of co-translational protein fatty acylation resulting from the attachment of myristate to a required N-terminal glycine…”
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies by Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W, Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T, Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R, Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M, Lee, Brendan H L, Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco

“…Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can…”
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UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants by Manti, Sara, Staiano, Annamaria, Orfeo, Luigi, Midulla, Fabio, Marseglia, Gian Luigi, Ghizzi, Chiara, Zampogna, Stefania, Carnielli, Virgilio Paolo, Favilli, Silvia, Ruggieri, Martino, Perri, Domenico, Di Mauro, Giuseppe, Gattinara, Guido Castelli, D'Avino, Antonio, Becherucci, Paolo, Prete, Arcangelo, Zampino, Giuseppe, Lanari, Marcello, Biban, Paolo, Manzoni, Paolo, Esposito, Susanna, Corsello, Giovanni, Baraldi, Eugenio

“…Bronchiolitis is an acute respiratory illness that is the leading cause of hospitalization in young children. This document aims to update the consensus…”
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Novel Coronavirus Disease 2019 Infection in Children: The Dark Side of a Worldwide Outbreak by Buonsenso, Danilo, Zampino, Giuseppe, Valentini, Piero

“…In this pediatric perspectives article, we discuss current limits in the understanding of novel coronavirus infection. In our opinion, the burden of novel…”
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Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature by Onesimo, Roberta, Agazzi, Cristiana, Massimi, Luca, Giorgio, Valentina, Leoni, Chiara, Zampino, Giuseppe, Rendeli, Claudia

“…Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome…”
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A restricted spectrum of NRAS mutations causes Noonan syndrome by Gelb, Bruce D, Gremer, Lothar, Digilio, Cristina, Dentici, Maria L, Roberts, Amy E, Zampino, Giuseppe, Kratz, Christian P, Dallapiccola, Bruno, Mazzanti, Laura, Stuppia, Liborio, Pantaleoni, Francesca, Ahmadian, Mohammad R, Zenker, Martin, Lepri, Francesca, Kutsche, Kerstin, Silengo, Margherita Cirillo, Joshi, Victoria A, König, Rainer, Carta, Claudio, Horn, Denise, Merbitz-Zahradnik, Torsten, Pennacchio, Len A, Mundlos, Stefan, Tartaglia, Marco, Dvorsky, Radovan, Wittinghofer, Alfred, Cirstea, Ion C, Seemanova, Eva, Patton, Michael A, Rossi, Cesare, Kucherlapati, Raju S

“…Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is…”
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes by Di Fede, Elisabetta, Massa, Valentina, Augello, Bartolomeo, Squeo, Gabriella, Scarano, Emanuela, Perri, Anna Maria, Fischetto, Rita, Causio, Francesco Andrea, Zampino, Giuseppe, Piccione, Maria, Curridori, Elena, Mazza, Tommaso, Castellana, Stefano, Larizza, Lidia, Ghelma, Filippo, Colombo, Elisa Adele, Gandini, Maria Chiara, Castori, Marco, Merla, Giuseppe, Milani, Donatella, Gervasini, Cristina

“…Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as "writer"…”
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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype by Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

“…RAS signaling plays a key role in controlling appropriate cell responses to extracellular stimuli and participates in early and late developmental processes…”
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Long-term effects of GH therapy in adult patients with Prader-Willi syndrome: a longitudinal study by Grugni, Graziano, Sartorio, Alessandro, Soranna, Davide, Zambon, Antonella, Grugni, Lucia, Zampino, Giuseppe, Crinò, Antonino

“…Prader-Willi syndrome (PWS) is a complex disorder resulting from the failure of expression of paternal alleles in the PWS region of chromosome 15. The PWS…”
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Intestinal Permeability in Children with Functional Gastrointestinal Disorders: The Effects of Diet by Giorgio, Valentina, Margiotta, Gaia, Stella, Giuseppe, Di Cicco, Federica, Leoni, Chiara, Proli, Francesco, Zampino, Giuseppe, Gasbarrini, Antonio, Onesimo, Roberta

“…Functional gastrointestinal disorders (FGIDs) are very common and life-impacting in children and young adults, covering 50% of pediatric gastroenterologist…”
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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome by Tartaglia, Marco, Gelb, Bruce D, Pennacchio, Len A, Zhao, Chen, Yadav, Kamlesh K, Fodale, Valentina, Sarkozy, Anna, Pandit, Bhaswati, Oishi, Kimihiko, Martinelli, Simone, Schackwitz, Wendy, Ustaszewska, Anna, Martin, Joel, Bristow, James, Carta, Claudio, Lepri, Francesca, Neri, Cinzia, Vasta, Isabella, Gibson, Kate, Curry, Cynthia J, Siguero, Juan Pedro López, Digilio, Maria Cristina, Zampino, Giuseppe, Dallapiccola, Bruno, Bar-Sagi, Dafna

“…Noonan syndrome is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies. Increased…”
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A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment by Trevisan, Valentina, De Corso, Eugenio, Viscogliosi, Germana, Onesimo, Roberta, Cina, Alessandro, Panfili, Marco, Perri, Lucrezia, Agazzi, Cristiana, Giorgio, Valentina, Rigante, Donato, Vento, Giovanni, Papacci, Patrizia, Paradiso, Filomena Valentina, Silvaroli, Sara, Nanni, Lorenzo, Resta, Nicoletta, Castori, Marco, Galli, Jacopo, Paludetti, Gaetano, Zampino, Giuseppe, Leoni, Chiara

“…Lymphatic malformations are vascular developmental anomalies varying from local superficial masses to diffuse infiltrating lesions, resulting in disfigurement…”
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome by Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco

“…ABSTRACT The RASopathies constitute a family of autosomal‐dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced…”
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Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region by Giovenale, Angela Maria Giada, Turco, Elisa Maria, Mazzoni, Martina, Ferrone, Ilaria, Torres, Barbara, Bernardini, Laura, Vulcano, Edvige, Ferrari, Daniela, Onesimo, Roberta, D’Arrigo, Stefano, Zampino, Giuseppe, Pennuto, Maria, De Luca, Alessandro, Vescovi, Angelo Luigi, Rosati, Jessica

“…Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic…”
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