Zobrazeno 1 - 10
of 1 500
pro vyhledávání: '"Bruno Dallapiccola"'
Autor:
Valeria Marzano, Stefano Levi Mortera, Pamela Vernocchi, Federica Del Chierico, Chiara Marangelo, Valerio Guarrasi, Simone Gardini, Maria Lisa Dentici, Rossella Capolino, Maria Cristina Digilio, Maddalena Di Donato, Iolanda Spasari, Maria Teresa Abreu, Bruno Dallapiccola, Lorenza Putignani
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Williams–Beuren syndrome (WBS) is a rare genetic neurodevelopmental disorder with multi-systemic manifestations. The evidence that most subjects with WBS face gastrointestinal (GI) comorbidities, have prompted us to carry out a metaproteom
Externí odkaz:
https://doaj.org/article/7ae17898543048b89c1fe53a2edd7e0e
Autor:
Bruno Dallapiccola, Rita Mingarelli
Publikováno v:
Audiology Research, Vol 13, Iss 6, Pp 939-941 (2023)
Robert J [...]
Externí odkaz:
https://doaj.org/article/2be4b4a07c4d42c1ae3716ac30e8d640
Autor:
Federica Del Chierico, Valeria Marzano, Matteo Scanu, Sofia Reddel, Maria Lisa Dentici, Rossella Capolino, Maddalena Di Donato, Iolanda Spasari, Ersilia Vita Fiscarelli, Maria Cristina Digilio, Maria Teresa Abreu, Bruno Dallapiccola, Lorenza Putignani
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Williams–Beuren syndrome (WBS) is a multisystem genetic disease caused by the deletion of a region of 1.5–1.8 Mb on chromosome 7q11.23. The elastin gene seems to account for several comorbidities and distinct clinical features such inclu
Externí odkaz:
https://doaj.org/article/4fdeefc4a03d4e9f973e7def609a7405
Autor:
Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Silvio Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani
Publikováno v:
Archives of Public Health, Vol 81, Iss 1, Pp 1-12 (2023)
Abstract Background About 80% of the roughly 7,000 known rare diseases are single gene disorders, about 85% of which are ultra-rare, affecting less than one in one million individuals. NGS technologies, in particular whole genome sequencing (WGS) in
Externí odkaz:
https://doaj.org/article/ba82813bd803413694f47f4965fecce3
Autor:
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures deri
Externí odkaz:
https://doaj.org/article/1d57089cec0e40f9ac05f0b75d18ed43
Autor:
Giulia Fasano, Valentina Muto, Francesca Clementina Radio, Martina Venditti, Niloufar Mosaddeghzadeh, Simona Coppola, Graziamaria Paradisi, Erika Zara, Farhad Bazgir, Alban Ziegler, Giovanni Chillemi, Lucia Bertuccini, Antonella Tinari, Annalisa Vetro, Francesca Pantaleoni, Simone Pizzi, Libenzio Adrian Conti, Stefania Petrini, Alessandro Bruselles, Ingrid Guarnetti Prandi, Cecilia Mancini, Balasubramanian Chandramouli, Magalie Barth, Céline Bris, Donatella Milani, Angelo Selicorni, Marina Macchiaiolo, Michaela V. Gonfiantini, Andrea Bartuli, Riccardo Mariani, Cynthia J. Curry, Renzo Guerrini, Anne Slavotinek, Maria Iascone, Bruno Dallapiccola, Mohammad Reza Ahmadian, Antonella Lauri, Marco Tartaglia
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-29 (2022)
Disruptions to the ER-Golgi network can lead to neurodevelopmental disorders, though our understanding of these Golgipathies remains incomplete. Here Lauri, Tartaglia and colleagues show that ARF3 mutations cause a rare pediatric neurological disorde
Externí odkaz:
https://doaj.org/article/a42e4ca5b10d4b7dba9201eff5862471
Autor:
Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new
Externí odkaz:
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
The variety in the display of animals’ cognition, emotions, and behaviors, typical of humans, has its roots within the anterior-most part of the brain: the forebrain, giving rise to the neocortex in mammals. Our understanding of cellular and molecu
Externí odkaz:
https://doaj.org/article/75a61f18c87a4393a2a6ad5fc0114b27
Autor:
Mario Cesare Nurchis, Gian Marco Raspolini, Aurora Heidar Alizadeh, Gerardo Altamura, Francesca Clementina Radio, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani
Publikováno v:
Journal of Personalized Medicine, Vol 13, Iss 6, p 899 (2023)
This study explores the organizational aspects of whole genome sequencing (WGS) implementation for pediatric patients with suspected genetic disorders in Italy, comparing it with whole exome sequencing (WES). Health professionals’ opinions were col
Externí odkaz:
https://doaj.org/article/32b0e6a21d2f4c4f997896f257ea4a16
Autor:
Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino
Publikováno v:
Biomolecules, Vol 13, Iss 5, p 725 (2023)
Neurofibromatosis type 1 is an autosomal-dominant condition caused by NF1 gene inactivation. Clinical diagnosis is corroborated by genetic tests on gDNA and cDNA, which are inconclusive in approximately 3–5% of cases. Genomic DNA approaches may ove
Externí odkaz:
https://doaj.org/article/e4be0266c2984e90a0a4ee3f078a4f9f