Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Authors: Carpentieri, Giovanna, Cecchetti, Serena, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Leoni, Chiara, Onesimo, Roberta, Calligari, Paolo, Pietrantoni, Agostina, Ciolfi, Andrea, Ferilli, Marco, Calderan, Cristina, Cappuccio, Gerarda, Martinelli, Simone, Messina, Elena, Caputo, Viviana, Hüffmeier, Ulrike, Mignot, Cyril, Auvin, Stéphane, Capri, Yline, Lourenco, Charles Marques, Russell, Bianca E., Neustad, Ahna, Brunetti Pierri, Nicola, Keren, Boris, Reis, André, Cohen, Julie S., Heidlebaugh, Alexis, Smith, Clay, Thiel, Christian T., Salviati, Leonardo, Zampino, Giuseppe, Campeau, Philippe M., Stella, Lorenzo, Tartaglia, Marco, Flex, Elisabetta

Source: In Human Genetics and Genomics Advances 10 October 2024 5(4)

Cross-Cultural Adaptation and Validation of the Italian Version of the Montreal Children's Hospital Feeding Scale in a Special Healthcare Needs Population

Authors: Sforza, Elisabetta (ORCID 0000-0002-5646-7406), Onesimo, Roberta, Triumbari, Elizabeth Katherine, Leoni, Chiara, Giorgio, Valentina, Rigante, Donato, Proli, Francesco, Kuczynska, Eliza Maria, Ramsay, Maria, Zampino, Giuseppe

Source: International Journal of Language & Communication Disorders. Jul-Aug 2023 58(4):1223-1231.

Peer Reviewed: Y

Page Count: 9

Descriptors: Foreign Countries, Hospitals, Hospitalized Children, Food, Nutrition, Individual Needs, Health Needs, Validity, Cultural Background, Adjustment (to Environment), Behavior Problems, Eating Habits, Cultural Differences, Measures (Individuals), Reliability, Construct Validity, Pediatrics, Identification

Geographic Terms: Canada (Montreal), Italy

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies

Authors: Romeo, Domenico Marco, Pironi, Virginia, Velli, Chiara, Sforza, Elisabetta, Rigante, Donato, Giorgio, Valentina, Leoni, Chiara, De Rose, Cristina, Kuczynska, Eliza Maria, Limongelli, Domenico, Ruiz, Roberta, Agazzi, Cristiana, Mercuri, Eugenio, Zampino, Giuseppe, Onesimo, Roberta

Source: In European Journal of Medical Genetics April 2024 68

Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation

Authors: Crincoli, Emanuele, Leoni, Chiara, Viscogliosi, Germana, Onesimo, Roberta, Mattei, Roberta, Tartaglia, Marco, Catania, Fiammetta, Rizzo, Stanislao, Zampino, Giuseppe, Salerni, Annabella

Source: American journal of medical genetics.Part A. 191(11):2783-2792

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Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness

Authors: Sinibaldi, Lorenzo, Garone, Giacomo, Mandarino, Alessandra, Iarossi, Giancarlo, Chioma, Laura, Dentici, Maria Lisa, Merla, Giuseppe, Agolini, Emanuele, Micalizzi, Alessia, Mancini, Cecilia, Niceta, Marcello, Macchiaiolo, Marina, Diodato, Daria, Onesimo, Roberta, Blandino, Rita, Delogu, Angelica Bibiana, De Rosa, Gabriella, Trevisan, Valentina, Iademarco, Mariella, Zampino, Giuseppe, Tartaglia, Marco, Novelli, Antonio, Bartuli, Andrea, Digilio, Maria Cristina, Calcagni, Giulio

Source: Clinical genetics. 104(5):528-541

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194568832.0x000001&indx=1&recIds=ETOCvdc_100194568832.0x000001

Celiac disease prevalence and predisposing‐HLA in a cohort of 93 Williams‐Beuren syndrome patients

Authors: Ghisleni, Cecilia, Parma, Barbara, Cianci, Paola, De Paoli, Anita, Pangallo, Elisabetta, Agovino, Teresa, Cereda, Anna, Bedeschi, Maria Francesca, Villa, Roberta, Fossati, Chiara, Modena, Piergiorgio, Giudici, Carolina, Morando, Carla, Memo, Luigi, Onesimo, Roberta, Zampino, Giuseppe, Salvatore, Silvia, Agosti, Massimo, Selicorni, Angelo

Source: American journal of medical genetics.Part A. 191(1):84-89

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How pain affect real life of children and adults with achondroplasia: A systematic review

Authors: Onesimo, Roberta, Sforza, Elisabetta, Bedeschi, Maria Francesca, Leoni, Chiara, Giorgio, Valentina, Rigante, Donato, De Rose, Cristina, Kuczynska, Eliza Maria, Romeo, Domenico Marco, Palmacci, Osvaldo, Massimi, Luca, Porro, Matteo, Gonfiantini, Michaela Veronika, Selicorni, Angelo, Allegri, Anna, Maghnie, Mohamad, Zampino, Giuseppe

Source: In European Journal of Medical Genetics November 2023 66(11)

Quantitative acoustical analysis of genetic syndromes in the number listing task

Authors: Frassineti, Lorenzo, Calà, Federico, Sforza, Elisabetta, Onesimo, Roberta, Leoni, Chiara, Lanatà, Antonio, Zampino, Giuseppe, Manfredi, Claudia

Source: In Biomedical Signal Processing and Control August 2023 85

Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Authors: Pera, Maria Carmela, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Chiarini, Maria Beatrice, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D’Alessandro, Rossella, Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, Mercuri, Eugenio

Source: In eClinicalMedicine May 2023 59

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Authors: van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

Source: In Genetics in Medicine January 2023 25(1):49-62

Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome

Authors: Leoni, Chiara, Viscogliosi, Germana, Onesimo, Roberta, Verdolotti, Tommaso, Biagini, Tommaso, Mazza, Tommaso, De Luca, Alessandro, Perri, Lucrezia, Trevisan, Valentina, Flex, Elisabetta, Tartaglia, Marco, Zampino, Giuseppe

Source: Clinical genetics. 104(1):136-138

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184652008.0x000001&indx=1&recIds=ETOCvdc_100184652008.0x000001

Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome

Authors: Leoni, Chiara, Viscogliosi, Germana, Onesimo, Roberta, Bisanti, Cristian, Massese, Miriam, Giorgio, Valentina, Corbo, Fabio, Tedesco, Marta, Acampora, Anna, Cipolla, Clelia, Dell'Atti, Claudia, Flex, Elisabetta, Gervasoni, Jacopo, Primiano, Aniello, Rigante, Donato, Tartaglia, Marco, Zampino, Giuseppe

Source: American journal of medical genetics.Part A. 188(2):414-421

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138891260.0x000001&indx=1&recIds=ETOCvdc_100138891260.0x000001

Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4‐year follow‐up study

Authors: Leoni, Chiara, Bisanti, Cristian, Viscogliosi, Germana, Onesimo, Roberta, Massese, Miriam, Giorgio, Valentina, Corbo, Fabio, Acampora, Anna, Cipolla, Clelia, Flex, Elisabetta, Dell'Atti, Claudia, Rigante, Donato, Tartaglia, Marco, Zampino, Giuseppe

Source: American journal of medical genetics.Part A. 188(2):422-430

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138891249.0x000001&indx=1&recIds=ETOCvdc_100138891249.0x000001

Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review

Authors: Leoni, Chiara, Blandino, Rita, Delogu, Angelica Bibiana, De Rosa, Gabriella, Onesimo, Roberta, Verusio, Valeria, Marino, Maria Vittoria, Lanza, Gaetano Antonio, Rigante, Donato, Tartaglia, Marco, Zampino, Giuseppe

Source: American journal of medical genetics.Part A. 188(2):431-445

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138891128.0x000001&indx=1&recIds=ETOCvdc_100138891128.0x000001

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review

Authors: Onesimo, Roberta, Giorgio, Valentina, Viscogliosi, Germana, Sforza, Elisabetta, Kuczynska, Eliza, Margiotta, Gaia, Iademarco, Mariella, Proli, Francesco, Rigante, Donato, Zampino, Giuseppe, Leoni, Chiara

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 190(4):478-493

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170149408.0x000001&indx=1&recIds=ETOCvdc_100170149408.0x000001

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

Authors: Kenney‐Jung, Daniel L., Rogers, Dante J., Kroening, Samuel J., Zatkalik, Abigail L., Whitmarsh, Ashley E., Roberts, Amy E., Zenker, Martin, Gambardella, Maria Luigia, Contaldo, Ilaria, Leoni, Chiara, Onesimo, Roberta, Zampino, Giuseppe, Tartaglia, Marco, Battaglia, Domenica I., Pierpont, Elizabeth I.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 190(4):501-509

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170149433.0x000001&indx=1&recIds=ETOCvdc_100170149433.0x000001

Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

Authors: Leoni, Chiara, Giorgio, Valentina, Stella, Giuseppe, Onesimo, Roberta, Triumbari, Elizabeth K. A., Podagrosi, Maria, Kuczynska, Eliza, Vollono, Catello, Lindley, Keith J., Zampino, Giuseppe

Source: American journal of medical genetics.Part A. 188(11):3287-3293

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163936445.0x000001&indx=1&recIds=ETOCvdc_100163936445.0x000001

Thoracolumbar stenosis and neurologic symptoms: Quantitative MRI in achondroplasia

Authors: Calandrelli, Rosalinda, Pilato, Fabio, Massimi, Luca, Onesimo, Roberta, D'Apolito, Gabriella, Tenore, Lorenzo, Leoni, Chiara, Zampino, Giuseppe, Colosimo, Cesare

Source: Journal of neuroimaging. 32(5):884-893

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100160638272.0x000001&indx=1&recIds=ETOCvdc_100160638272.0x000001

Pulmonary artery sling in a 22‐month‐old boy with 18q deletion syndrome: A rare but possible association

Authors: Delogu, Angelica Bibiana, Mariani, Francesco, Graziani, Francesca, Onesimo, Roberta, Savino, Giancarlo, Leoni, Chiara, Zampino, Giuseppe

Source: Echocardiography. 39(5):741-744

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153695667.0x000001&indx=1&recIds=ETOCvdc_100153695667.0x000001

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

Authors: Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco

Source: Human molecular genetics. 31(16):2766-2778

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158929885.0x000001&indx=1&recIds=ETOCvdc_100158929885.0x000001