Zobrazeno 1 - 10
of 166
pro vyhledávání: '"Agatino Battaglia"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100168- (2023)
Externí odkaz:
https://doaj.org/article/8cf0c36dad5a4e85ad63e4f6face065f
Autor:
Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Martina Romagnoli, Flavia Baccari, Corrado Zenesini, Paola Visconti, Annio Posar, Maria Cristina Scaduto, Danara Ormanbekova, Agatino Battaglia, Raffaella Tancredi, Cinzia Cameli, Marta Viggiano, Anna Olivieri, Antonio Torroni, Elena Maestrini, Magali Jane Rochat, Elena Bacchelli, Valerio Carelli, Alessandra Maresca
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic transmission at one en
Externí odkaz:
https://doaj.org/article/1c62301bd7b6428bb828f81a3fca9fbf
Autor:
Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 6, Pp 795-809 (2014)
Abstract Intellectual disability (ID) and autism spectrum disorders (ASDs) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin in two siblings wi
Externí odkaz:
https://doaj.org/article/719c40e8807c493794f7627dceec2567
Autor:
Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M Klauck, Fritz Poustka, Christine M Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M Boeckers, Thomas Bourgeron
Publikováno v:
PLoS Genetics, Vol 8, Iss 2, p e1002521 (2012)
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects
Externí odkaz:
https://doaj.org/article/03767000fd224a4884ce09193bcfd6c7
Autor:
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia
Publikováno v:
American Journal of Medical Genetics Part A. 191:540-545
Autor:
Sue L. Jaspersen, Deborah A. Bruns, Meghan S. Candee, Agatino Battaglia, John C. Carey, Kristen P. Fishler
Publikováno v:
American journal of medical genetics. Part AREFERENCES.
Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and p
Autor:
John C. Carey, Agatino Battaglia
Publikováno v:
American Journal of Medical Genetics Part A. 185:2748-2755
Since Hirschhorn's description in 1961, the history and chronology of the clinical, cytogenetic, and molecular characterization of Wolf-Hirschhorn syndrome (WHS) elegantly demonstrates the remarkable advances in genetic technology over the last six d
Autor:
Agatino Battaglia
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes
Autor:
Agatino Battaglia
Publikováno v:
Cassidy and Allanson's Management of Genetic Syndromes. :265-280
Publikováno v:
American Journal of Medical Genetics Part A.
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder, clinically delineated by prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The disorder is caused by partial loss of mater