Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Autor: Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)

Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in

Externí odkaz: https://doaj.org/article/0358fc56f6054b188a138c71c996e968

Cohort profile: demographic and clinical characteristics of the MILESTONE longitudinal cohort of young people approaching the upper age limit of their child mental health care service in Europe

Autor: Philip Wells, Andrea De Giacomo, Lucia Margari, Maria Giuseppina Petruzzelli, Fiona McNicholas, Helen Keeley, Mario Speranza, Giuseppe Carrà, Jason Madan, James McDonald, Jatinder Singh, Federico Fiori, Leanne Walker, Helena Tuomainen, Sarah Miller, Laura Adams, Mathilde Mastroianni, Natalie Heaney, Kate Lievesley, Ilyas Sagar-Ouriaghli, Giovanni Allibrio, Rebecca Appleton, Nikolina Davidović, Giovanni de Girolamo, Katarina Dodig-Ćurković, Tomislav Franić, Charlotte Gatherer, Elisa Gheza, Lidia Manenti, Athanasios Maras, Francesco Margari, Adriana Pastore, Moli Paul, Diane Purper-Ouakil, Francesco Rinaldi, Vehbi Sakar, Giulia Signorini, Cathy Street, Priya Tah, Sabine Tremmery, Amanda Tuffrey, Anna Wilson, Erika Riva, Renata Nacinovich, Alastair Canaway, Claire Daffern, Marina Danckaerts, Frederique Bonnet-Brilhault, Frank C Verhulst, Emiliano Monzani, Paola Martinelli, Swaran P Singh, Ottaviano Martinelli, Gwen C Dieleman, James Griffin, Sonja Aslan, Frédérick Russet, James Kirwan, Ashley Liew, Véronique Humbertclaude, Paramala J Santosh, Maria Migone, Suzanne E Gerritsen, Larissa S van Bodegom, Mathilde M Overbeek, Angelo Bertani, Maria G Cataldo, Patrizia Conti, David Da Fonseca, Cecilia Ferrari, Gaëlle Hendrickx, Alfred Kolozsvari, Flavia Micol Levi, Virginie Maurice, Lesley O'Hara, Veronique de Roeck, Melanie C Saam, Anne Sartor, Aurélie Schandrin, Ulrike M E Schulze, Elena Tanase, Therese A M J van Amelsvoort, Marco Armando, Nadia Baccanelli, Monica Balaudo, Fabia Bergamo, Jo Berriman, Chrystèle Bodier Rethore, Albert Boon, Karen Braamse, Ulrike Breuninger, Maura Buttiglione, Sarah Buttle, Marco Cammarano, Fortunata Cantini, Cristiano Cappellari, Marta Carenini, Isabelle Charvin, Krizia Chianura, Philippa Coleman, Annalisa Colonna, Patrizia Conese, Raffaella Costanzo, Peter Dineen, Jean-Pierre Ermans, Alan Farmer, Jörg M Fegert, Alessandro Ferrari, Sabrina Ferrari, Giuliana Galea, Michela Gatta, Giacomo Goglia, MariaRosa Grandetto, Elaine Healy, Keith Holmes, Nicola Ingravallo, Roberta Invernizzi, Renaud Jardri, Caoimhe Kelly, Meghan Killilea, Catherine Klockaerts, Vlatka Kovač, Hélène Lida-Pulik, Christel Lippens, Fionnuala Lynch, Francesca Macchi, Leighton McFadden, Deny Menghini, Giorgia Morini, Todor Mutafov, Cristina Negrinotti, Emmanuel Nelis, Francesca Neri, Paulina Nikolova, Marzia Nossa, Michele Noterdaeme, Francesca Operto, Vittoria Panaro, Aesa Parenti, Vinuthna Pemmaraju, Ann Pepermans, Anna Presicci, Catherine Prigent, Laura Rivolta, Anne Roekens, Ben Rogers, Pablo Ronzini, Selena Salvetti, Tanveer Sandhu, Renate Schepker, Paolo Scocco, Marco Siviero, Michael Slowik, Courtney Smyth, Maria Antonietta Spadone, Paolo Stagi, Pamela Stagni, Fabrizio Starace, Patrizia Stoppa, Lucia Tansini, Cecilia Toselli, Guido Trabucchi, Maria Tubito, Arno van Dam, Hanne Van Gutschoven, Dirk van West, Fabio Vanni, Chiara Vannicola, Cristiana Varuzza, Pamela Varvara, Patrizia Ventura, Stefano Vicari, Stefania Vicini, Carolin von Bentzel, Beata Williams, Marina Zabarella, Anna Zamboni, Edda Zanetti

Publikováno v: BMJ Open, Vol 11, Iss 12 (2021)

Purpose The presence of distinct child and adolescent mental health services (CAMHS) and adult mental health services (AMHS) impacts continuity of mental health treatment for young people. However, we do not know the extent of discontinuity of care i

Externí odkaz: https://doaj.org/article/e28bba3efa0e4a4b887f5ccceb688ef0

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

Autor: Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Operto, Grazia Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli

Publikováno v: Genes; Volume 13; Issue 2; Pages: 276

Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a1a9b4f791e524e91ffcfb1bc3e1601
https://hdl.handle.net/11573/1677848

Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series

Autor: Giuseppina, Vitiello, Romina, Romaniello, Alessandra, D’Amico, Mariasavina, Severino4, Filippo, Arrigoni, Rita, Genesio, Floriana, Imperati, Orsetta, Zuffardi, The Italian CCA Study Group (Achille Iolascon, Nicola, Brunetti‐pierri, Alfonso, Romano, Carmela, Bravaccio, Marco, Carotenuto, Daniela, Melis, Gaetano, Terrone, Piero, Pignataro, Lorenzo, Ugga, Arturo, Brunetti, Vincenzo, Nigro, Angela Francesca Crisanti, Edoardo, Errichiello, Giovanni, Cioni, Simona, Fiori, Paola, Brovedani, Daria, Riva, Nardo, Nardocci, Stefano, D’Arrigo, Luisa, Chiapparini, Livia, Garavelli, Carmine, Pascarella, Ivan, Ivanovski, Vincenzo, Leuzzi, Spalice, Alberto, Mario, Mastrangelo, Luigi, Tarani, Francesco, Nicita, Giacomo, Garone, Mariachiara, Colaiacomo, Claudio Di Biasi, Parisi, Pasquale, Alessandro, Ferretti, Francesco, Brancati, Francesco, Garaci, Federica Carla Sangiuolo, Federico, Vigevano, Marina, Trivisano, Enricosilvio, Bertini, Lorena, Travaglini, Giangennaro, Coppola, Lucia, Margari, Francesca, Operto, Mattia, Gentile, Elisa, Franzoni, Duccio Maria Cordelli, Francesco, Toni, Veronica Di Pisa, Giuseppe, Gobbi, Lucia, Marangio, Margherita, Santucci, Monica, Maffei, Melissa, Filippini, Anna, Ficcadenti, Gabriele, Polonara, Nelia, Zamboni, Sabrina, Siliquini, Claudia, Passamonti, Agata, Fiumara, Simone, Palmucci, Rita, Barone, Fazzi, ELISA MARIA, Patrizia, Accorsi, Paola, Martelli, Lucio, Giordano, Serena, Micheletti, Lorenzo, Pinelli, Striano, Pasquale, Valeria, Capra, Uccella, Sara, Mancardi, MARIA MARGHERITA, Veneselli, EDVIGE MARIA, Michela, Sole, Battaglia, FRANCESCA MARIA, Agnese, Suppiej, Elisa, Cainelli, Giacomo, Talenti, Giuseppe, Sartori, Irene, Toldo, Eleonora, Lorenzon, Angelo, Selicorni, Silvia, Maitz), Lucio, Nitsch, Renato, Borgatti, Ennio Del Giudice

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::09fe53932eab477da20df134aae645bb
https://hdl.handle.net/11392/2417531

WEST SYNDROME ASSOCIATED WITH 14Q12 DUPLICATIONS HARBOURING FOXG1

Autor: Striano, Pasquale, Paravidino, R, Federico, Sicca, Pietro, Chiurazzi, Stefania, Gimelli, Antonietta, Coppola, Angela, Robbiano, Monica, Traverso, Maria, Pintaudi, Simona, Giovannini, Francesca, Operto, Piernanda, Vigliano, Tiziana, Granata, Antonio, Romeo, Giangennaro, Coppola, Nicola, Specchio, Lucio, Giordano, Osborne, LUCY R., Giorgio, Gimelli, Minetti, Carlo, Zara, Federico

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3710::4d9e4293672d7c8067b715668c803f61
http://hdl.handle.net/11567/258074