Search Results - "FICCADENTI, Anna"

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS by Masciadri, Maura, Ficcadenti, Anna, Milani, Donatella, Cogliati, Francesca, Divizia, Maria Teresa, Larizza, Lidia, Russo, Silvia

“…Splicing pathogenic variants account for a notable fraction of alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to…”
Get full text

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy by Manara, Renzo, Priante, Elena, Grimaldi, Marco, Santoro, Lucia, Astarita, Luca, Barone, Rita, Concolino, Daniela, Di Rocco, Maja, Donati, Maria Alice, Fecarotta, Simona, Ficcadenti, Anna, Fiumara, Agata, Furlan, Francesca, Giovannini, Irene, Lilliu, Franco, Mardari, Rodica, Polonara, Gabriele, Procopio, Elena, Rampazzo, Angelica, Rossi, Andrea, Sanna, Graziolina, Parini, Rossella, Scarpa, Maurizio

“…Backgroud Hunter disease is a rare X-linked mucopolysaccharidosis. Despite frequent neurological involvement, characterizing the severe phenotype, neuroimaging…”
Get full text

Optimal position of a long-term central venous catheter tip in a pediatric patient with congenital diseases by Caruselli, Marco, Galante, Dario, Ficcadenti, Anna, Carboni, Laura, Franco, Federica, Fabrizzi, Benedetta, Amici, Lucia, Giretti, Roberto, Rocchi, Giovanni, Rinaldelli, Giampaolo

“…Progress in medical and scientific research has increased the chances of survival for young patients with congenital diseases, children who, in the past, would…”
Get full text

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas by Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Digilio, Maria Cristina, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro

“…Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c.5425C>T…”
Get full text

Oligosaccharides in 4 Different Milk Groups, Bifidobacteria, and Ruminococcus obeum by Coppa, Giovanni V, Gabrielli, Orazio, Zampini, Lucia, Galeazzi, Tiziana, Ficcadenti, Anna, Padella, Lucia, Santoro, Lucia, Soldi, Sara, Carlucci, Antonio, Bertino, Enrico, Morelli, Lorenzo

“…Objectives: The aim of this study was to identify a link between the total amount of breast milk oligosaccharides and faecal microbiota composition of newborns…”
Get full text

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ by Ferri, Lorenzo, Malesci, Duccio, Fioravanti, Antonella, Bagordo, Gaia, Filippini, Armando, Ficcadenti, Anna, Manna, Raffaele, Antuzzi, Daniela, Verrecchia, Elena, Donati, Ilaria, Mignani, Renzo, Cavicchi, Catia, Guerrini, Renzo, Morrone, Amelia

“…Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA…”
Get full text

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment by Gabrielli, Orazio, Clarke, Lorne A, Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V

“…Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized by a progressive course with…”
Get full text

Italian multicentre study found infectious and vaccine‐preventable diseases in children adopted from Africa and recommends prompt medical screening by Chiappini, Elena, Zaffaroni, Mauro, Bianconi, Martina, Veneruso, Giuseppina, Grasso, Nicolino, Garazzino, Silvia, Arancio, Rosangela, Valentini, Piero, Ficcadenti, Anna, Da Riol, Maria Rosalia, La Placa, Simona, Galli, Luisa, Martino, Maurizio, Bona, Gianni

“…Aim This study evaluated the prevalence of infectious diseases and immunisation status of children adopted from Africa. Methods We studied 762 African children…”
Get full text

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1 by Fischer, Björn, Callewaert, Bert, Schröter, Phillipe, Coucke, Paul J., Schlack, Claire, Ott, Claus-Eric, Morroni, Manrico, Homann, Wolfgang, Mundlos, Stefan, Morava, Eva, Ficcadenti, Anna, Kornak, Uwe

“…Autosomal recessive cutis laxa (ARCL) type 2 constitutes a heterogeneous group of diseases mainly characterized by lax and wrinkled skin, skeletal anomalies,…”
Get full text

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations by Caciotti, Anna, Tonin, Rodolfo, Rigoldi, Miriam, Ferri, Lorenzo, Catarzi, Serena, Cavicchi, Catia, Procopio, Elena, Donati, Maria Alice, Ficcadenti, Anna, Fiumara, Agata, Barone, Rita, Garavelli, Livia, Rocco, Maja Di, Filocamo, Mirella, Antuzzi, Daniela, Scarpa, Maurizio, Mooney, Sean D., Li, Biao, Skouma, Anastasia, Bianca, Sebastiano, Concolino, Daniela, Casalone, Rosario, Monti, Elena, Pantaleo, Marilena, Giglio, Sabrina, Guerrini, Renzo, Parini, Rossella, Morrone, Amelia

“…ABSTRACT Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS), encoded…”
Get full text

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature by Callewaert, Bert L, Loeys, Bart L, Ficcadenti, Anna, Vermeer, Sascha, Landgren, Magnus, Kroes, Hester Y, Yaron, Yuval, Pope, Michael, Foulds, Nicola, Boute, Odile, Galán, Francisco, Kingston, Helen, Van der Aa, Nathalie, Salcedo, Iratxe, Swinkels, Marielle E, Wallgren-Pettersson, Carina, Gabrielli, Orazio, De Backer, Julie, Coucke, Paul J, De Paepe, Anne M

“…Beals-Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by crumpled ears,…”
Get full text

Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: An Italian experience by Santoro, Lucia, Ficcadenti, Anna, Zallocco, Federica, Baldo, Giada Del, Piraccini, Francesca, Gesuita, Rosaria, Ceccarani, Patrizia, Gabrielli, Orazio

“…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…”
Get full text

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease by Concolino, Daniela, Degennaro, Emilia, Parini, Rossella

“…Abstract Background Management of Anderson–Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a…”
Get full text

Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: A new entity or Hall–Riggs syndrome? by Ficcadenti, Anna, Santoro, Lucia, Petroni, Valeria, Carini, Cecilia, Gabrielli, Orazio

“…We report on a 4‐year‐old boy with mental retardation, facial and skeletal anomalies, cerebral angiomas, femoral nucleus necrosis, mild biochemical…”
Get full text

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects by Disabella, Eliana, Grasso, Maurizia, Marziliano, Nicola, Ansaldi, Silvia, Lucchelli, Claudia, Porcu, Emanuele, Tagliani, Marilena, Pilotto, Andrea, Diegoli, Marta, Lanzarini, Luca, Malattia, Clara, Pelliccia, Antonio, Ficcadenti, Anna, Gabrielli, Orazio, Arbustini, Eloisa

“…TGF-beta-receptor 2 (TGFBR2) gene defects have been recently associated with Marfan syndrome (MFS) with prominent cardio-skeletal phenotype in patients with…”
Get full text

Erythema multiforme following live attenuated trivalent measles-mumps-rubella vaccine by BERNARDINI, Maria Luisa, D'ANGELO, Gianfranco, OGGIANO, Nicola, CAMPANATI, Anna, FICCADENTI, Anna, COPPA, Giovanni Valentino, OFFIDANI, Annamaria

Get full text

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 qene defects by DISABELLA, Eliana, GRASSO, Maurizia, MALATTIA, Clara, PELLICCIA, Antonio, FICCADENTI, Anna, GABRIELLI, Orazio, ARBUSTINI, Eloisa, MARZILIANO, Nicola, ANSALDI, Silvia, LUCCHELLI, Claudia, PORCU, Emanuele, TAGLIANI, Marilena, PILOTTO, Andrea, DIEGOLI, Marta, LANZARINI, Luca

Get full text

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS by Masciadri, Maura, Ficcadenti, Anna, Milani, Donatella, Cogliati, Francesca, Divizia, Maria Teresa, Larizza, Lidia, Russo, Silvia

Get full text

Mental retardation, facial anomalies, brachydactyly, cerebral angiomas, femoral nucleus necrosis: A new entity or Hall-Riggs syndrome? by Ficcadenti, Anna, Santoro, Lucia, Petroni, Valeria, Carini, Cecilia, Gabrielli, Orazio

Get full text

Optimal position of a long-term central venous catheter tip in a pediatric patient with congenital diseases by Caruselli, Marco, Galante, Dario, Ficcadenti, Anna, Carboni, Laura, Franco, Federica, Fabrizzi, Benedetta, Amici, Lucia, Giretti, Roberto, Rocchi, Giovanni, Rinaldelli, Giampaolo

Get full text