Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Anna Ficcadenti"'
Autor:
Marco Caruselli, Dario Galante, Anna Ficcadenti, Laura Carboni, Federica Franco, Benedetta Fabrizzi, Lucia Amici, Roberto Giretti, Giovanni Rocchi, Giampaolo Rinaldelli
Publikováno v:
Pediatric Reports, Vol 4, Iss 3, Pp e32-e32 (2012)
Progress in medical and scientific research has increased the chances of survival for young patients with congenital diseases, children who, in the past, would not have had any chance of survival. Nowadays, congenital diseases can be treated with app
Externí odkaz:
https://doaj.org/article/bcfa42cf6c9f440c852236ccc8bffc02
Autor:
Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola, JS Italian Study Group, Patrizia, Accorsi, Enrico, Alfei, Elena, Andreucci, Gianluigi, Ardissino, Emanuela, Avola, Rita, Barone, Francesco, Benedicenti, Stefania, Bigoni, Loredana, Boccone, Bonati, Maria T., Stefania, Bova, Marilena, Briguglio, Silvana, Briuglia, Olga, Calabrese, Cantalupo, Gaetano, Gianluca, Caridi, Monica, Cazzagon, Celle, Maria E., Cilio, Maria R., Giangennaro, Coppola, Adele, D’Amico, Stefano, D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno, Dallapiccola, Raffaella, Devescovi, Maria Cristina Digilio, Ilaria, Donati, Donati, Maria A., Dotti, Maria T., Francesco, Emma, Antonella, Fabretto, Elisa, Fazzi, Alessandra, Ferlini, Alessandro, Ferraris, Giovanni Battista Ferrero, Anna, Ficcadenti, Simona, Fiori, Rita, Fischetto, Elena, Freri, Livia, Garavelli, Mattia, Gentile, Lucio, Giordano, Donatella, Greco, Claudia, Izzi, Vincenzo, Leuzzi, Elisabetta, Lucarelli, Silvia, Majore, Mancardi, Maria M., Francesca, Mari, Giuseppina, Marra, Laura, Mazzanti, Daniela, Melis, Emanuele, Micaglio, Marisol, Mirabelli-Badenier, Isabella, Moroni, Nardo, Nardocci, Margherita, Nosadini, Simona, Orcesi, Giovanni, Pagani, Chiara, Pantaleoni, Francesco Papadia Papadia, Pasquale, Parisi, Maria Grazia Patricelli, Cinzia, Peruzzi, Alice, Pessagno, Maria, Piccione, Antonella, Pini, Tiziana, Pisano, Livia, Pisciotta, Marzia, Pollazzon, Francesca, Rivieri, Alfonso, Romano, Corrado, Romano, Leonardo, Salviati, Carmelo Damiano Salpietro, Margherita, Santucci, Emanuela, Scarano, Barbara, Scelsa, Alberto, Sensi, Marco, Seri, Sabrina, Signorini, Margherita, Silengo, Simonati, Alessandro, Fabio, Sirchia, Luigina, Spaccini, Franco, Stanzial, Gilda, Stringini, Eva, Trevisson, Antonella, Trivelli, Vera, Uliana, Graziella, Uziel, Gessica, Vasco, Marina, Vascotto, Giuseppina, Vitiello, Federica, Zibordi
Publikováno v:
Neurology, Vol. 94, no.8, p. e797-e801 (2020)
ObjectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.MethodsWe enrolled all patients with a neuroradiologicall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e514766fd23b3d9e1add49a06f0da0f5
http://hdl.handle.net/11577/3356044
http://hdl.handle.net/11577/3356044
Autor:
Elena Verrecchia, Gaia Bagordo, Amelia Morrone, Daniela Antuzzi, Renzo Mignani, Renzo Guerrini, Armando Filippini, Ilaria Donati, Catia Cavicchi, Antonella Fioravanti, Duccio Malesci, Lorenzo Ferri, Anna Ficcadenti, Raffaele Manna
Publikováno v:
Clinica Chimica Acta. 481:25-33
Background Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-link
Autor:
Donatella Milani, Maria Teresa Divizia, Lidia Larizza, Silvia Russo, Maura Masciadri, Francesca Cogliati, Anna Ficcadenti
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Frontiers in Neurology
Frontiers in Neurology
Splicing pathogenic variants account for a notable fraction of NIPBL alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing m
Autor:
Giuseppina, Vitiello, Romina, Romaniello, Alessandra, D’Amico, Mariasavina, Severino4, Filippo, Arrigoni, Rita, Genesio, Floriana, Imperati, Orsetta, Zuffardi, The Italian CCA Study Group (Achille Iolascon, Nicola, Brunetti‐pierri, Alfonso, Romano, Carmela, Bravaccio, Marco, Carotenuto, Daniela, Melis, Gaetano, Terrone, Piero, Pignataro, Lorenzo, Ugga, Arturo, Brunetti, Vincenzo, Nigro, Angela Francesca Crisanti, Edoardo, Errichiello, Giovanni, Cioni, Simona, Fiori, Paola, Brovedani, Daria, Riva, Nardo, Nardocci, Stefano, D’Arrigo, Luisa, Chiapparini, Livia, Garavelli, Carmine, Pascarella, Ivan, Ivanovski, Vincenzo, Leuzzi, Spalice, Alberto, Mario, Mastrangelo, Luigi, Tarani, Francesco, Nicita, Giacomo, Garone, Mariachiara, Colaiacomo, Claudio Di Biasi, Parisi, Pasquale, Alessandro, Ferretti, Francesco, Brancati, Francesco, Garaci, Federica Carla Sangiuolo, Federico, Vigevano, Marina, Trivisano, Enricosilvio, Bertini, Lorena, Travaglini, Giangennaro, Coppola, Lucia, Margari, Francesca, Operto, Mattia, Gentile, Elisa, Franzoni, Duccio Maria Cordelli, Francesco, Toni, Veronica Di Pisa, Giuseppe, Gobbi, Lucia, Marangio, Margherita, Santucci, Monica, Maffei, Melissa, Filippini, Anna, Ficcadenti, Gabriele, Polonara, Nelia, Zamboni, Sabrina, Siliquini, Claudia, Passamonti, Agata, Fiumara, Simone, Palmucci, Rita, Barone, Fazzi, ELISA MARIA, Patrizia, Accorsi, Paola, Martelli, Lucio, Giordano, Serena, Micheletti, Lorenzo, Pinelli, Striano, Pasquale, Valeria, Capra, Uccella, Sara, Mancardi, MARIA MARGHERITA, Veneselli, EDVIGE MARIA, Michela, Sole, Battaglia, FRANCESCA MARIA, Agnese, Suppiej, Elisa, Cainelli, Giacomo, Talenti, Giuseppe, Sartori, Irene, Toldo, Eleonora, Lorenzon, Angelo, Selicorni, Silvia, Maitz), Lucio, Nitsch, Renato, Borgatti, Ennio Del Giudice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09fe53932eab477da20df134aae645bb
https://hdl.handle.net/11392/2417531
https://hdl.handle.net/11392/2417531
Autor:
Martina Bianconi, Gianni Bona, Maria Rosalia Da Riol, Simona La Placa, Elena Chiappini, Anna Ficcadenti, Piero Valentini, Maurizio de Martino, Luisa Galli, G Veneruso, Rosangela Arancio, Silvia Garazzino, Nicolino Grasso, Mauro Zaffaroni
AIM This study evaluated the prevalence of infectious diseases and immunisation status of children adopted from Africa. METHODS We studied 762 African children referred to 11 Italian paediatric centres in 2009-2015. Clinical and laboratory data were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0de07ac73dbdddfaef82a9a2ea7398f
http://hdl.handle.net/2318/1870322
http://hdl.handle.net/2318/1870322
Autor:
Anna Ficcadenti, Orazio Gabrielli, Nicola Volpi, Lucia Zampini, Lorne A. Clarke, Lucia Santoro, Giovanni V. Coppa
Publikováno v:
BMC Medical Genetics
Background: Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, Mucopolysaccharidosis type I is classified into t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6422f56c667cbb5c72835b335298cede
Autor:
Rosaria Gesuita, Anna Ficcadenti, Giada Del Baldo, Patrizia Ceccarani, Orazio Gabrielli, Francesca Piraccini, Federica Zallocco, Lucia Santoro
Publikováno v:
American Journal of Medical Genetics Part A. 164:3042-3051
Since 2005, the Pediatric Clinic of Maternal-Infantile Sciences Institute in Ancona, in collaboration with the Lega del Filo d'Oro in Osimo, has been taking care of 35 patients with clinical and molecular diagnosis of CHARGE syndrome. Our investigati
Autor:
Claus-Eric Ott, Eva Morava, Björn Fischer, Bert Callewaert, Stefan Mundlos, Wolfgang Homann, Claire Schlack, Anna Ficcadenti, Manrico Morroni, Uwe Kornak, Paul Coucke, Phillipe Schröter
Publikováno v:
Molecular Genetics and Metabolism, 112, 310-6
Molecular Genetics and Metabolism, 112, 4, pp. 310-6
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 112, 4, pp. 310-6
Molecular Genetics and Metabolism
Contains fulltext : 136809.pdf (Publisher’s version ) (Closed access) Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wrinkled skin, skeletal anomalies, and a variable degre
Publikováno v:
American Journal of Medical Genetics Part A. :1001-1005
We report on a 4-year-old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical abnormalities. This complex of features resembles the Hall-Riggs syndrome but could represent a novel