检索结果 - D'Arrigo, Stefano

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype 由 Nuovo, Sara, Micalizzi, Alessia, D’Arrigo, Stefano, Ginevrino, Monia, Biagini, Tommaso, Mazza, Tommaso, Valente, Enza Maria

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Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion Involving BCL2L10, GNB5, and MYO5C Genes, Resembling Infantile Developmental Disorder With Cardiac Arrhythmias (... 由 Sciacca, Francesca L., Ciaccio, Claudia, Fontana, Federica, Strano, Camilla, Gilardoni, Francesca, Pantaleoni, Chiara, D’Arrigo, Stefano

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Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 由 Jiao, Xianru, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, D’Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Gong, Pan, Grand, Katheryn, Sanchez-Lara, Pedro A., Krier, Joel, Fieg, Elizabeth, Stergachis, Andrew, Wang, Xiaodong, Yang, Zhixian

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Consensus Paper: The Cerebellum's Role in Movement and Cognition 由 Koziol, Leonard F., Budding, Deborah, Andreasen, Nancy, D'Arrigo, Stefano, Bulgheroni, Sara, Imamizu, Hiroshi, Ito, Masao, Manto, Mario, Marvel, Cherie, Parker, Krystal, Pezzulo, Giovanni, Ramnani, Narender, Riva, Daria, Schmahmann, Jeremy, Vandervert, Larry, Yamazaki, Tadashi

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The Syndrome of Perisylvian Polymicrogyria with Congenital Arthrogryposis 由 Poduri, Annapurna, Chitsazzadeh, Vida, D’Arrigo, Stefano, Fedrizzi, Ermellina, Pantaleoni, Chiara, Riva, Daria, Busse, Claudia, Küster, Helmut, Duplessis, Adre, Gaitanis, John, Sahin, Mustafa, Garganta, Cheryl, Topcu, Meral, Dies, Kira A., Barry, Brenda J., Partlow, Jennifer, Barkovich, A. James, Walsh, Christopher A., Chang, Bernard S.

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Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome 由 Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D’Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco

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Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome 由 Cappuccio, Gerarda, Brillante, Simona, Tammaro, Roberta, Pinelli, Michele, De Bernardi, Margherita Lucia, Gensini, Maria Grazia, Bijlsma, Emilia K., Koopmann, Tamara T., Hoffer, Mariette J. V., McDonald, Kimberly, Hendon, Laura G., Douzgou, Sofia, Deshpande, Charulata, D'Arrigo, Stefano, Torella, Annalaura, Nigro, Vincenzo, Franco, Brunella, Brunetti‐Pierri, Nicola

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Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria 由 O'Driscoll, Mary C., Daly, Sarah B., Urquhart, Jill E., Black, Graeme C.M., Pilz, Daniela T., Brockmann, Knut, McEntagart, Meriel, Abdel-Salam, Ghada, Zaki, Maha, Wolf, Nicole I., Ladda, Roger L., Sell, Susan, D'Arrigo, Stefano, Squier, Waney, Dobyns, William B., Livingston, John H., Crow, Yanick J.

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MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement 由 Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Mazzotta, Annalisa, Bertini, Enrico, Boltshauser, Eugen, D’Arrigo, Stefano, Emma, Francesco, Fazzi, Elisa, Gallizzi, Romina, Gentile, Mattia, Loncarevic, Damir, Mejaski-Bosnjak, Vlatka, Pantaleoni, Chiara, Rigoli, Luciana, Salpietro, Carmelo D., Signorini, Sabrina, Stringini, Gilda Rita, Verloes, Alain, Zabloka, Dominika, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria

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Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment 由 Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel

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Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI 由 Poretti, Andrea, Vitiello, Giuseppina, Hennekam, Raoul CM, Arrigoni, Filippo, Bertini, Enrico, Borgatti, Renato, Brancati, Francesco, D'Arrigo, Stefano, Faravelli, Francesca, Giordano, Lucio, Huisman, Thierry AGM, Iannicelli, Miriam, Kluger, Gerhard, Kyllerman, Marten, Landgren, Magnus, Lees, Melissa M, Pinelli, Lorenzo, Romaniello, Romina, Scheer, Ianina, Schwarz, Christoph E, Spiegel, Ronen, Tibussek, Daniel, Valente, Enza Maria, Boltshauser, Eugen

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Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes 由 Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria

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Healthcare recommendations for Joubert syndrome 由 Bachmann-Gagescu, Ruxandra, Dempsey, Jennifer C., Bulgheroni, Sara, Chen, Maida L., D'Arrigo, Stefano, Glass, Ian A., Heller, Theo, Héon, Elise, Hildebrandt, Friedhelm, Joshi, Nirmal, Knutzen, Dana, Kroes, Hester Y., Mack, Stephen H., Nuovo, Sara, Parisi, Melissa A., Snow, Joseph, Summers, Angela C., Symons, Jordan M., Zein, Wadih M., Boltshauser, Eugen, Sayer, John A., Gunay-Aygun, Meral, Valente, Enza Maria, Doherty, Dan

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Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies 由 Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D'Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Johannes.Penzien, Grammatico, Paola, Dallapiccola, Bruno, Gleeson, Joseph G., Attie-Bitach, Tania, Valente, Enza Maria

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Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 由 Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, Valente, Enza Maria

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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects 由 De Mori, Roberta, Romani, Marta, D’Arrigo, Stefano, Zaki, Maha S., Lorefice, Elisa, Tardivo, Silvia, Biagini, Tommaso, Stanley, Valentina, Musaev, Damir, Fluss, Joel, Micalizzi, Alessia, Nuovo, Sara, Illi, Barbara, Chiapparini, Luisa, Di Marcotullio, Lucia, Issa, Mahmoud Y., Anello, Danila, Casella, Antonella, Ginevrino, Monia, Leggins, Autumn Sa’na, Roosing, Susanne, Alfonsi, Romina, Rosati, Jessica, Schot, Rachel, Mancini, Grazia Maria Simonetta, Bertini, Enrico, Dobyns, William B., Mazza, Tommaso, Gleeson, Joseph G., Valente, Enza Maria

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Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 由 Garau, Jessica, Cavallera, Vanessa, Valente, Marialuisa, Tonduti, Davide, Sproviero, Daisy, Zucca, Susanna, Battaglia, Domenica, Battini, Roberta, Bertini, Enrico, Cappanera, Silvia, Chiapparini, Luisa, Crasà, Camilla, Crichiutti, Giovanni, Giustina, Elvio Dalla, D’Arrigo, Stefano, Giorgis, Valentina De, Simone, Micaela De, Galli, Jessica, Piana, Roberta La, Messana, Tullio, Moroni, Isabella, Nardocci, Nardo, Panteghini, Celeste, Parazzini, Cecilia, Pichiecchio, Anna, Pini, Antonella, Ricci, Federica, Saletti, Veronica, Salvatici, Elisabetta, Santorelli, Filippo M., Sartori, Stefano, Tinelli, Francesca, Uggetti, Carla, Veneselli, Edvige, Zorzi, Giovanna, Garavaglia, Barbara, Fazzi, Elisa, Orcesi, Simona, Cereda, Cristina

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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants 由 Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome 由 Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 由 Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta

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