Search Results - "BIAMINO, Elisa"

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) by Pettinato, Fabio, Mostile, Giovanni, Battini, Roberta, Martinelli, Diego, Madeo, Annalisa, Biamino, Elisa, Frattini, Daniele, Garozzo, Domenico, Gasperini, Serena, Parini, Rossella, Sirchia, Fabio, Sortino, Giuseppe, Sturiale, Luisa, Matthijs, Gert, Morrone, Amelia, Di Rocco, Maja, Rizzo, Renata, Jaeken, Jaak, Fiumara, Agata, Barone, Rita

“…We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2…”
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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome by Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco

“…Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits,…”
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Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire by Rusconi, Daniela, Negri, Gloria, Colapietro, Patrizia, Picinelli, Chiara, Milani, Donatella, Spena, Silvia, Magnani, Cinzia, Silengo, Margherita Cirillo, Sorasio, Lorena, Curtisova, Vaclava, Cavaliere, Maria Luigia, Prontera, Paolo, Stangoni, Gabriela, Ferrero, Giovanni Battista, Biamino, Elisa, Fischetto, Rita, Piccione, Maria, Gasparini, Paolo, Salviati, Leonardo, Selicorni, Angelo, Finelli, Palma, Larizza, Lidia, Gervasini, Cristina

“…Rubinstein–Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies…”
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Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome by Liu, Delong, Billington, Jr, Charles J, Raja, Neelam, Wong, Zoe C, Levin, Mark D, Resch, Wulfgang, Alba, Camille, Hupalo, Daniel N, Biamino, Elisa, Bedeschi, Maria Francesca, Digilio, Maria Cristina, Squeo, Gabriella Maria, Villa, Roberta, Parrish, Pheobe C R, Knutsen, Russell H, Osgood, Sharon, Freeman, Joy A, Dalgard, Clifton L, Merla, Giuseppe, Pober, Barbara R, Mervis, Carolyn B, Roberts, Amy E, Morris, Colleen A, Osborne, Lucy R, Kozel, Beth A

“…Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams-Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams-Beuren…”
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P212: Modifiers of arterial stenosis in Williams syndrome: Using genomics to discover drivers of vessel-specific outcomes by Golbus, Ashley, Liu, Delong, Levin, Mark, Raja, Neelam, Biamino, Elisa, Bedeschi, Maria, Digilio, Maria, Squeo, Gabriella, Villa, Roberta, Freeman, Joy Lynne, Osgood, Sharon, Merla, Giuseppe, Pober, Barbara, Mervis, Carolyn, Roberts, Amy, Morris, Colleen, Osborne, Lucy, Kozel, Beth

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Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study by Spada, Marco, Porta, Francesco, Righi, Dorico, Gazzera, Carlo, Tandoi, Francesco, Ferrero, Ivana, Fagioli, Franca, Sanchez, Maria Beatriz Herrera, Calvo, Pier Luigi, Biamino, Elisa, Bruno, Stefania, Gunetti, Monica, Contursi, Cristina, Lauritano, Carola, Conio, Alessandra, Amoroso, Antonio, Salizzoni, Mauro, Silengo, Lorenzo, Camussi, Giovanni, Romagnoli, Renato

“…Previous studies have shown that human liver stem-like cells (HLSCs) may undergo differentiation in vitro into urea producing hepatocytes and in vivo may…”
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Prevention and Management of Hearing Loss in Syndromic Craniosynostosis: a case series by Biamino, Elisa, MD, Canale, Andrea, MD, Lacilla, Michelangelo, AuD, Marinosci, Annalisa, MD, Dagna, Federico, MD, Genitori, Lorenzo, MD, Peretta, Paola, MD, Silengo, Margherita, MD, Albera, Roberto, MD, Ferrero, Giovanni Battista, MD, PhD

“…Abstract Objective To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. Methods Eleven children with Apert…”
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Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome by MUSSA, Alessandro, CORRIAS, Andrea, BALDASSARRE, Giuseppina, BIAMINO, Elisa, SILENGO, Margherita

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Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability by Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo

“…Intellectual disability affects approximately 1 to 3% of the general population. The etiology is still poorly understood and it is estimated that one-half of…”
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Remittent hyperammonemia in congenital portosystemic shunt by FERRERO, Giovanni Battista, PORTA, Francesco, BIAMINO, Elisa, MUSSA, Alessandro, GARELLI, Emanuela, CHIAPPE, Francesca, VELTRI, Andrea, CIRILLO SILENGO, Margherita, GENNARI, Fabrizio

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MO059COLEC10 AND 3MC SYNDROME: EXPANDING THE GENOTYPIC AND PHENOTYPIC SPECTRUM OF A VERY RARE DISEASE by Migliorero, Martina, Kalantari, Silvia, Bracciamà, Valeria, Sorbini, Monica, Arruga, Francesca, Peruzzi, Licia, Biamino, Elisa, Amoroso, Antonio, Vaisitti, Tiziana, Deaglio, Silvia

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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies by Kerkhof, Jennifer, Squeo, Gabriella Maria, McConkey, Haley, Levy, Michael A., Piemontese, Maria Rosaria, Castori, Marco, Accadia, Maria, Biamino, Elisa, Della Monica, Matteo, Di Giacomo, Marilena Carmela, Gervasini, Cristina, Maitz, Silvia, Melis, Daniela, Milani, Donatella, Piccione, Maria, Prontera, Paolo, Selicorni, Angelo, Sadikovic, Bekim, Merla, Giuseppe

“…Chromatinopathies include more than 50 disorders caused by disease-causing variants of various components of chromatin structure and function. Many of these…”
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7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages by Adamo, Antonio, Atashpaz, Sina, Germain, Pierre-Luc, Zanella, Matteo, D'Agostino, Giuseppe, Albertin, Veronica, Chenoweth, Josh, Micale, Lucia, Fusco, Carmela, Unger, Christian, Augello, Bartolomeo, Palumbo, Orazio, Hamilton, Brad, Carella, Massimo, Donti, Emilio, Pruneri, Giancarlo, Selicorni, Angelo, Biamino, Elisa, Prontera, Paolo, McKay, Ronald, Merla, Giuseppe, Testa, Giuseppe

“…Giuseppe Testa and colleagues report the generation and transcriptional characterization of patient-derived induced pluripotent stem cells (iPSCs) with copy…”
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Early higher dosage of alglucosidase alpha in classic Pompe disease by Spada, Marco, Pagliardini, Veronica, Ricci, Federica, Biamino, Elisa, Mongini, Tiziana, Porta, Francesco

“…Background With conventional enzyme replacement therapy (ERT), the clinical prognosis of classic Pompe disease is often unsatisfactory. About half the patients…”
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A novel COLEC10 mutation in a child with 3MC syndrome by Migliorero, Martina, Kalantari, Silvia, Bracciamà, Valeria, Sorbini, Monica, Arruga, Francesca, Peruzzi, Licia, Biamino, Elisa, Amoroso, Antonio, Vaisitti, Tiziana, Deaglio, Silvia

“…3MC syndrome is an autosomal recessive disorder encompassing four rare disorders previously known as the Malpuech, Michels, Mingarelli and Carnevale syndromes…”
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Playing competitive basketball in face of late-onset pompe disease by Porta, Francesco, Pagliardini, Veronica, Roasio, Luca, Biamino, Elisa, Spada, Marco

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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders by Negri, Gloria, Magini, Pamela, Milani, Donatella, Crippa, Milena, Biamino, Elisa, Piccione, Maria, Sotgiu, Stefano, Perrìa, Chiara, Vitiello, Giuseppina, Frontali, Marina, Boni, Antonella, Di Fede, Elisabetta, Gandini, Maria Chiara, Colombo, Elisa Adele, Bamshad, Michael J., Nickerson, Deborah A., Smith, Joshua D., Loddo, Italia, Finelli, Palma, Seri, Marco, Pippucci, Tommaso, Larizza, Lidia, Gervasini, Cristina

“…Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability,…”
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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients by Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe

“…ABSTRACT Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental…”
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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder by Pavinato, Lisa, Stanic, Jennifer, Barzasi, Marta, Gurgone, Antonia, Chiantia, Giuseppe, Cipriani, Valentina, Eberini, Ivano, Palazzolo, Luca, Di Luca, Monica, Costa, Alex, Marcantoni, Andrea, Biamino, Elisa, Spada, Marco, Hiatt, Susan M, Kelley, Whitley V, Vestito, Letizia, Sisodiya, Sanjay M, Efthymiou, Stephanie, Chand, Prem, Kaiyrzhanov, Rauan, Bruselles, Alessandro, Cardaropoli, Simona, Tartaglia, Marco, De Rubeis, Silvia, Buxbaum, Joseph D, Smedley, Damian, Ferrero, Giovanni Battista, Giustetto, Maurizio, Gardoni, Fabrizio, Brusco, Alfredo

“…RPH3A encodes a protein involved in the stabilization of GluN2A subunit of N-methyl-D-aspartate (NMDA)-type glutamate receptors at the cell surface, forming a…”
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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity by Biamino, Elisa, Di Gregorio, Eleonora, Belligni, Elga Fabia, Keller, Roberto, Riberi, Evelise, Gandione, Marina, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Pappi, Patrizia, Talarico, Flavia, Fea, Antonio M., De Rubeis, Silvia, Cirillo Silengo, Margherita, Ferrero, Giovanni Battista, Brusco, Alfredo

“…Copy number variation (CNV) has been associated with a variety of neuropsychiatric disorders, including intellectual disability/developmental delay (ID/DD),…”
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