Search Results - "Lepri, Francesca R."

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function by Zilmer, Monica, Edmondson, Andrew C, Khetarpal, Sumeet A, Alesi, Viola, Zaki, Maha S, Rostasy, Kevin, Madsen, Camilla G, Lepri, Francesca R, Sinibaldi, Lorenzo, Cusmai, Raffaella, Novelli, Antonio, Issa, Mahmoud Y, Fenger, Christina D, Abou Jamra, Rami, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petäjä-Repo, Ulla E, Hintze, John, Raymond, Kimiyo M, Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G, Vitali, Cecilia, O'Brien, W Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J, Schjoldager, Katrine T, Møller, Rikke S

“…Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lipid glycosylation. Here, we report the…”
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AIRE mutation triggering acute liver failure: between genetic testing and treatment options by Pietrobattista, Andrea, Della Corte, Claudia, Francalanci, Paola, Lepri, Francesca R., Maggiore, Giuseppe

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Congenital heart defects in molecularly confirmed KBG syndrome patients by Digilio, Maria Cristina, Calcagni, Giulio, Gnazzo, Maria, Versacci, Paolo, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Baban, Anwar, Putotto, Carolina, Alfieri, Paolo, Unolt, Marta, Lepri, Francesca R., Alesi, Viola, Genovese, Silvia, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno

“…Congenital heart defects (CHDs) are known to occur in 9%–25% of patients with KBG syndrome. In this study we analyzed the prevalence and anatomic types of CHDs…”
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KBG syndrome: Common and uncommon clinical features based on 31 new patients by Gnazzo, Maria, Lepri, Francesca R, Dentici, Maria Lisa, Capolino, Rossella, Pisaneschi, Elisa, Agolini, Emanuele, Rinelli, Martina, Alesi, Viola, Versacci, Paolo, Genovese, Silvia, Cesario, Claudia, Sinibaldi, Lorenzo, Baban, Anwar, Bartuli, Andrea, Marino, Bruno, Cappa, Marco, Dallapiccola, Bruno, Novelli, Antonio, Digilio, Maria Cristina

“…KBG syndrome (MIM #148050) is an autosomal dominant disorder characterized by developmental delay, intellectual disability, distinct craniofacial anomalies,…”
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Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosis by Digilio, M. Cristina, Bernardini, Laura, Consoli, Federica, Lepri, Francesca R, Giuffrida, M. Grazia, Baban, Anwar, Surace, Cecilia, Ferese, Rosangela, Angioni, Adriano, Novelli, Antonio, Marino, Bruno, De Luca, Alessandro, Dallapiccola, Bruno

“…Abstract Microdeletion 1q21.1 (del 1q21.1) and the reciprocal microduplication 1q21.1 (dup 1q21.1) are newly recognized genomic disorders, characterized by…”
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Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation by Ponzi, Emanuela, Alesi, Viola, Lepri, Francesca R., Genovese, Silvia, Loddo, Sara, Mucciolo, Mafalda, Novelli, Antonio, Dionisi‐Vici, Carlo, Maiorana, Arianna

“…Background Glycogen storage disease type III (GSDIII) is caused by mutations of AGL gene with debranching enzyme deficiency. Patients with GSDIII manifest…”
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Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome by Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin

“…Aberrant signaling through pathways controlling cell response to extracellular stimuli constitutes a central theme in disorders affecting development…”
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Diagnosis of Noonan syndrome and related disorders using target next generation sequencing by Lepri, Francesca Romana, Scavelli, Rossana, Digilio, Maria Cristina, Gnazzo, Maria, Grotta, Simona, Dentici, Maria Lisa, Pisaneschi, Elisa, Sirleto, Pietro, Capolino, Rossella, Baban, Anwar, Russo, Serena, Franchin, Tiziana, Angioni, Adriano, Dallapiccola, Bruno

“…Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions,…”
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