Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Marcello Niceta"'
Autor:
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio
Externí odkaz:
https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6
Autor:
Emilia Stellacci, Marcello Niceta, Alessandro Bruselles, Emilio Straface, Massimo Tatti, Mattia Carvetta, Cecilia Mancini, Serena Cecchetti, Mariacristina Parravano, Lucilla Barbano, Monica Varano, Marco Tartaglia, Lucia Ziccardi, Viviana Cordeddu
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8313 (2024)
Bardet–Biedl syndrome (BBS) is a rare recessive multisystem disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, cognitive deficits, and genitourinary defects. BBS is clinically variable and genetically heterogeneous, wit
Externí odkaz:
https://doaj.org/article/89b5b2200ec54b0c873ca9b70600b81d
Autor:
Carlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, Susanna Rizzi, Camilla Cappelletti, Simone Pizzi, Daniele Frattini, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Marcello Niceta, Francesca Clementina Radio, Marco Tartaglia, Livia Garavelli, Carlo Fusco
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
ObjectiveWe aimed to report on previously unappreciated clinical features associated with FOXP1-related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, an
Externí odkaz:
https://doaj.org/article/b63d96ca2f06471c8155a7c1ece643c5
Autor:
Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria Piccione
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not been fully de
Externí odkaz:
https://doaj.org/article/01b5006b5d1d4f268118e73c35d37a3b
Autor:
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia
Publikováno v:
BMC Pediatrics, Vol 20, Iss 1, Pp 1-9 (2020)
Abstract Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern
Externí odkaz:
https://doaj.org/article/c06ccff5eedb42eead89a617da39ae99
Autor:
Lucia Ziccardi, Marcello Niceta, Emilia Stellacci, Andrea Ciolfi, Massimo Tatti, Alessandro Bruselles, Cecilia Mancini, Lucilla Barbano, Serena Cecchetti, Eliana Costanzo, Marco Cappa, Mariacristina Parravano, Monica Varano, Marco Tartaglia, Viviana Cordeddu
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 14656 (2022)
Inherited retinal degeneration (IRD) represents a clinically variable and genetically heterogeneous group of disorders characterized by photoreceptor dysfunction. These diseases typically present with progressive severe vision loss and variable onset
Externí odkaz:
https://doaj.org/article/e666bf03b49a432793e9c39a8543988c
Autor:
Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Marco Tartaglia
Publikováno v:
Genes, Vol 13, Iss 11, p 2163 (2022)
Background: Inactivating NSD1 mutations causing Sotos syndrome have been previously associated with a specific genome-wide DNA methylation (DNAm) pattern. Sotos syndrome is characterized by phenotypic overlap with other overgrowth syndromes, and a de
Externí odkaz:
https://doaj.org/article/67cdb4cb8d1440ceb0781962c37acde1
Autor:
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1815 (2022)
Wiedemann–Steiner syndrome (WDSTS) is a Mendelian syndromic intellectual disability (ID) condition associated with hypertrichosis cubiti, short stature, and characteristic facies caused by pathogenic variants in the KMT2A gene. Clinical features ca
Externí odkaz:
https://doaj.org/article/a6bf93b9a5034f0c9761191d3399a9b9
Autor:
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Publikováno v:
Genes, Vol 12, Iss 8, p 1208 (2021)
Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as involved in the pathogenesis of this condition. V
Externí odkaz:
https://doaj.org/article/896e05efa5ba40a296e449b8c0588ff7
Autor:
Giulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Marcello Niceta, Anwar Baban, Francesca Piceci Sparascio, Fabrizio Drago, Alessandro De Luca, Marco Tartaglia, Bruno Marino, Paolo Versacci
Publikováno v:
Genes, Vol 12, Iss 7, p 1047 (2021)
Recent advances in understanding the genetic causes and anatomic subtypes of cardiac defects have revealed new links between genetic etiology, pathogenetic mechanisms and cardiac phenotypes. Although the same genetic background can result in differen
Externí odkaz:
https://doaj.org/article/e297a537bed94191bc7ce5f8ea8128e5