Search Results - "FISCHETTO, Rita"

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism by Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

“…Grant Stewart, Andrew Jackson, Christopher Mathew, Fowzan Alkuraya and colleagues identify a novel replication fork protein, DONSON, which is important for…”
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Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes by Paduano, Francesco, Fischetto, Rita, Moretti, Biagio, De Vito, Danila, Tatullo, Marco

“…IntroductionOsteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal disorder. The majority of affected cases are attributed to…”
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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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Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond by Toscano, Antonio, Musumeci, Olimpia, Sacchini, Michele, Ravaglia, Sabrina, Siciliano, Gabriele, Fiumara, Agata, Verrecchia, Elena, Maione, Melania, Gentile, Jennifer, Fischetto, Rita, Crescimanno, Grazia, Taurisano, Roberta, Sechi, Annalisa, Gasperini, Serena, Cianci, Vittoria, Maggi, Lorenzo, Parini, Rossella, Lupica, Antonino, Scarpa, Maurizio

“…BackgroundThe Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the…”
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Novel approach to idursulfase and laronidase desensitization in type 2 and type 1 S mucopolysaccharidosis (MPS) by Spataro, Federico, Viggiani, Fabio, Macchia, Domenico Giorgio, Rollo, Valentina, Tummolo, Albina, Suppressa, Patrizia, Sabba', Carlo, Rossi, Maria Pia, Giliberti, Lucia, Satriano, Francesco, Nettis, Eustachio, Di Bona, Danilo, Caiaffa, Maria Filomena, Fischetto, Rita, Macchia, Luigi

“…Idursulfase and laronidase are drugs used to treat Hunter syndrome (mucopolysaccharidosis type 2) and Scheie syndrome (mucopolysaccharidosis type 1 S),…”
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Neurovascular retinal impairment in early-treated adults with phenylketonuria by Buonamassa, Rosa, Boscia, Giacomo, Gaudiomonte, Marida, Guerriero, Silvana, Fischetto, Rita, Montepara, Alfonso, Grassi, Maria Oliva, Pignataro, Maria Grazia, Puzo, Pasquale, Giancipoli, Ermete, D'addario, Marina, Alessio, Giovanni, Boscia, Francesco, Viggiano, Pasquale

“…To compare radial peripapillary capillary (RPC) vascular plexus parameters and peripapillary retinal nerve fiber layer (pRNFL) thickness between Early-Treated…”
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Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms? by Negrisolo, Susanna, Carraro, Andrea, Fregonese, Giulia, Benetti, Elisa, Schaefer, Franz, Alberti, Marta, Melchionda, Salvatore, Fischetto, Rita, Giordano, Mario, Murer, Luisa

“…Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and…”
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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome by Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A, Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie

“…Wiedemann-Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and…”
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Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients by Micale, Lucia, Augello, Bartolomeo, Fusco, Carmela, Selicorni, Angelo, Loviglio, Maria N, Silengo, Margherita Cirillo, Reymond, Alexandre, Gumiero, Barbara, Zucchetti, Federica, D'Addetta, Ester V, Belligni, Elga, Calcagnì, Alessia, Digilio, Maria C, Dallapiccola, Bruno, Faravelli, Francesca, Forzano, Francesca, Accadia, Maria, Bonfante, Aldo, Clementi, Maurizio, Daolio, Cecilia, Douzgou, Sofia, Ferrari, Paola, Fischetto, Rita, Garavelli, Livia, Lapi, Elisabetta, Mattina, Teresa, Melis, Daniela, Patricelli, Maria G, Priolo, Manuela, Prontera, Paolo, Renieri, Alessandra, Mencarelli, Maria A, Scarano, Gioacchino, della Monica, Matteo, Toschi, Benedetta, Turolla, Licia, Vancini, Alessandra, Zatterale, Adriana, Gabrielli, Orazio, Zelante, Leopoldo, Merla, Giuseppe

“…Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature,…”
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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome by BLIEK, Jet, VERDE, Gaetano, FISCHETTO, Rita, LALATTA, Faustina, GIORDANO, Lucio, FERRARI, Paola, CUBELLIS, Maria Vittoria, LARIZZA, Lidia, TEMPLE, I. Karen, MANNENS, Marcel M. A. M, MACKAY, Deborah J. G, RICCIO, Andrea, CALLAWAY, Jonathan, MAAS, Saskia M, DE CRESCENZO, Agostina, SPARAGO, Angela, CERRATO, Flavia, RUSSO, Silvia, FERRAIUOLO, Serena, MICHELA RINALDI, Maria

“…Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical…”
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Evaluation of Antimicrobial Resistance in Salmonella Strains Isolated from Food, Animal and Human Samples between 2017 and 2021 in Southern Italy by Alessiani, Alessandra, Goffredo, Elisa, Mancini, Maria, Occhiochiuso, Gilda, Faleo, Simona, Didonna, Antonella, Fischetto, Rita, Suglia, Federica, De Vito, Danila, Stallone, Antonella, D'Attoli, Luigi, Donatiello, Adelia

“…is one of the most common causes of foodborne infection in the world, and the most common one in Italy. Italy collaborates with the other EU member states to…”
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SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development by Kelberman, Daniel, de Castro, Sandra C. P., Huang, Shuwen, Crolla, John A., Palmer, Rodger, Gregory, John W., Taylor, David, Cavallo, Luciano, Faienza, Maria F., Fischetto, Rita, Achermann, John C., Martinez-Barbera, Juan Pedro, Rizzoti, Karine, Lovell-Badge, Robin, Robinson, Iain C. A. F., Gerrelli, Dianne, Dattani, Mehul T.

“…Context: Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe microphthalmia and…”
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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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Body Composition in Adolescent PKU Patients: Beyond Fat Mass by Tummolo, Albina, Carella, Rosa, Paterno, Giulia, Bartolomeo, Nicola, Giotta, Massimo, Dicintio, Annamaria, De Giovanni, Donatella, Fischetto, Rita

“…There is a lack of evidence on the impact on body composition of high protein intake and types of protein substitutes in PKU patients—particularly in…”
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Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia by Cinque, Luigia, Pugliese, Flavia, Salcuni, Antonio Stefano, Trombetta, Domenico, Battista, Claudia, Biagini, Tommaso, Augello, Bartolomeo, Nardella, Grazia, Conti, Francesco, Corbetta, Sabrina, Fischetto, Rita, Foiadelli, Thomas, Gaudio, Agostino, Giannini, Cosimo, Grosso, Enrico, Guabello, Gregorio, Massuras, Stefania, Palermo, Andrea, Politano, Luisa, Pigliaru, Francesca, Ruggeri, Rosaria Maddalena, Scarano, Emanuela, Vicchio, Piera, Cannavò, Salvatore, Celli, Mauro, Petrizzelli, Francesco, Mastroianno, Mario, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito

“…IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical…”
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Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience by Fischetto, Rita, Palladino, Valentina, Mancardi, Maria M., Giacomini, Thea, Palladino, Stefano, Gaeta, Alberto, Di Rocco, Maja, Zampini, Lucia, Lassandro, Giuseppe, Favia, Vito, Tripaldi, Maria E., Strisciuglio, Pietro, Romano, Alfonso, Severino, Mariasavina, Morrone, Amelia, Giordano, Paola

“…Background In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral…”
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Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 by Zollino, Marcella, Lecce, Rosetta, Fischetto, Rita, Murdolo, Marina, Faravelli, Francesca, Selicorni, Angelo, Buttè, Cinzia, Memo, Luigi, Capovilla, Giuseppe, Neri, Giovanni

“…In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients…”
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Alagille Syndrome: A Novel Mutation in JAG1 Gene by Fischetto, Rita, Palmieri, Viviana V, Tripaldi, Maria E, Gaeta, Alberto, Michelucci, Angela, Delvecchio, Maurizio, Francavilla, Ruggiero, Giordano, Paola

“…Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in or , encoding for the…”
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Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay by Gatta, Valentina, Antonucci, Ivana, Morizio, Elisena, Palka, Chiara, Fischetto, Rita, Mokini, Vahe, Tumini, Stefano, Calabrese, Giuseppe, Stuppia, Liborio

“…Deletions of the SHOX gene (Xp22-Yp11.3) are associated with Leri-Weill dyschondrosteosys (LWD) and idiopathic short stature. It has been estimated that SHOX…”
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Clinical and molecular characterization of Italian patients affected by Cohen syndrome by Katzaki, Eleni, Pescucci, Chiara, Uliana, Vera, Papa, Filomena Tiziana, Ariani, Francesca, Meloni, Ilaria, Priolo, Manuela, Selicorni, Angelo, Milani, Donatella, Fischetto, Rita, Celle, Maria Elena, Grasso, Rita, Dallapiccola, Bruno, Brancati, Francesco, Bordignon, Marta, Tenconi, Romano, Federico, Antonio, Mari, Francesca, Renieri, Alessandra, Longo, Ilaria

“…Cohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability,…”
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