Age and sex prevalence estimate of Joubert syndrome in Italy

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

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Autor: Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta

Publikováno v: Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9

PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da

Prevention and management of hearing loss in syndromic craniosynostosis: A case series

Autor: Annalisa Marinosci, Roberto Albera, Paola Peretta, Margherita Silengo, Federico Dagna, Lorenzo Genitori, Elisa Biamino, Michelangelo Lacilla, Andrea Canale, Giovanni Battista Ferrero

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 85:95-98

Objective To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. Methods Eleven children with Apert syndrome ( n = 4), Saethre-Chotzen syndrome ( n = 3), Muenke syndrome ( n = 2), Crouzon syndrome ( n = 1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d127ae94e0e8a0c93ead7ec06962e919
https://doi.org/10.1016/j.ijporl.2016.03.038

Fetal growth patterns in Beckwith-Wiedemann syndrome

Autor: Donatella Milani, Daniela Melis, Andrea Riccio, Marina Macchiaiolo, Cristina Molinatto, Silvia Russo, Milena Mariani, Giovanni Battista Ferrero, Lidia Larizza, Luigi Tarani, Angelo Selicorni, Maria Francesca Bedeschi, A. de Crescenzo, Luciano Calzari, Andrea Freschi, Maria Vittoria Cubellis, Silvia Maitz, Andrea Bartuli, Giuseppina Baldassarre, Margherita Silengo, Alessandro Mussa

Publikováno v: Clinical Genetics. 90:21-27

We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this obse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bab424132466ac2ea9687ad4d2f1243f
https://doi.org/10.1111/cge.12759

Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Autor: Manuela Napoli, Isabella Mammi, Jeroen Breckpot, Stefano Giuseppe Caraffi, Gioacchino Scarano, Rikke S. Møller, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Daniela Santodirocco, Sébastien Moutton, Didier Lacombe, Aurélien Trimouille, Maria Luisa Poch-Olive, Chiara Pantaleoni, Roberta Epifanio, Allan Bayat, Massimo Maggi, Margaret P. Adam, Alessandro Iodice, Francesca Faravelli, Livia Garavelli, William B. Dobyns, Patrizia Accorsi, Olivera Djuric, Francesca Rivieri, Nicoletta Zanotta, Elvis Terci Valera, Alex R. Paciorkowski, Debora Formisano, Marina Grasso, Marzia Pollazzon, Koenraad Devriendt, Rosario Pascarella, Giovanni Sorge, Bert Callewaert, Alessandro Pellicciari, Petra Muschke, Luigi Tarani, Chiara Baldo, Luis G. Tone, Sabine Grønborg, Guido Cocchi, Federico Raviglione, Carmela Russo, Lorenzo Iughetti, Angelo Selicorni, Federico Bonvicini, Lucio Giordano, Duccio Maria Cordelli, Salvatore Savasta, Baris Malbora, Margherita Silengo, Ivan Ivanovski, Elga Fabia Belligni, Goran Cuturilo, Marcella Zollino, Annick Toutain, Mary Beth Dinulos

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Genetics in Medicine
Garavelli, L, Ivanovski, I, Caraffi, S G, Santodirocco, D, Pollazzon, M, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, M B, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, R S, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, M L, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zollino, M, Dobyns, W B & Paciorkowski, A R 2017, ' Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients ', Genetics in Medicine, vol. 19, no. 6, pp. 691-700 . https://doi.org/10.1038/gim.2016.176
GENETICS IN MEDICINE

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09aa20cba34a99332db2a2bec15c152e
https://lirias.kuleuven.be/handle/123456789/556415