Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Chiara, Baldo"'
Autor:
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Joana Soraia Martinheira da Silva, Barbara Testa, Simona Baldassari, Federico Zara, Gilberto Filaci, Domenico Coviello, Michela Malacarne
Publikováno v:
Stem Cell Research, Vol 76, Iss , Pp 103324- (2024)
Sotos syndrome (SoS) is a neurodevelopmental disorder that results from NSD1 mutations that cause haploinsufficiency of NSD1. Here, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a SoS patient carrying the pathogenic va
Externí odkaz:
https://doaj.org/article/f7c12dd6f9e343cf8cf32593503f2226
Autor:
Giuseppina Conteduca, Chiara Baldo, Alessia Arado, Monica Traverso, Barbara Testa, Michela Malacarne, Domenico Coviello, Federico Zara, Simona Baldassari
Publikováno v:
Stem Cell Research, Vol 66, Iss , Pp 103007- (2023)
Sotos syndrome (SoS) is a neurodevelopmental disorder caused by haploinsufficiency of the NSD1 gene located on chromosome 5 region q35.3. In order to understand the pathogenesis of Sotos syndrome and in view of future therapeutic approaches for its e
Externí odkaz:
https://doaj.org/article/57416b47298e4535b6ceb56a59e64108
Autor:
Giuseppina Conteduca, Davide Cangelosi, Simona Coco, Michela Malacarne, Chiara Baldo, Alessia Arado, Rute Pinto, Barbara Testa, Domenico A. Coviello
Publikováno v:
Life, Vol 12, Iss 7, p 988 (2022)
An increasing amount of evidence indicates the critical role of the NSD1 gene in Sotos syndrome (SoS), a rare genetic disease, and in tumors. Molecular mechanisms affected by NSD1 mutations are largely uncharacterized. In order to assess the impact o
Externí odkaz:
https://doaj.org/article/4e21a40845144d309055a35a4bcb4c1e
Autor:
Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
Abstract Background Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results The aim of this work is
Externí odkaz:
https://doaj.org/article/53a9c144620f4daf9ef46f3a65eb4e27
Autor:
Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-8 (2016)
Abstract Background Rare diseases (RDs) are often neglected because they affect a small percentage of the population (6–8 %), which makes research and development of new therapies challenging processes. Easy access to high-quality samples and assoc
Externí odkaz:
https://doaj.org/article/006e79c58f444a9789a5afc43fab50c6
Autor:
Esperanza Fernández, Elena Gennaro, Filomena Pirozzi, Chiara Baldo, Francesca Forzano, Licia Turolla, Francesca Faravelli, Denise Gastaldo, Domenico Coviello, Marina Grasso, Claudia Bagni
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the FMR1 gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in the 5′UTR of the gene, and methylation of the cytosines located in the CpG islands ups
Externí odkaz:
https://doaj.org/article/41b5c010e4e84727a7ef3cf87a440b65
Autor:
Chiara Baldo, Valeria Viotti, Elisabetta Maioli, Massimo Mogni, Mauro Castagnetta, Simona Cavani, Giuseppe Piombo, Domenico Coviello
Publikováno v:
Open Journal of Bioresources, Vol 3, p e1 (2016)
The Galliera Genetic Bank is part of the Laboratory of Human Genetics of Galliera Hospital in Genoa and has collected samples from patients affected by genetic diseases since 1983. Presently, it stores 10,259 biospecimens and associated data from abo
Externí odkaz:
https://doaj.org/article/0dead6944dea4b5189ad68d325ee0731
Autor:
Simonetta Rosato, Andrea Frasoldati, Elisa Magnani, Livia Garavelli, Leslie Matalonga, Ivan Ivanovski, Sergio Bernasconi, Orsetta Zuffardi, Chiara Baldo, Davide Nicoli, Stefano Giuseppe Caraffi, Simonetta Piana, Marzia Pollazzon
Publikováno v:
Journal of Human Genetics. 65:133-141
Alazami syndrome (MIM#615071) is a rare developmental disorder caused by biallelic variants in the LARP7 gene. Hallmark features include short stature, global developmental delay, and distinctive facial features. To date, 23 patients from 11 families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5ad16951da22cf0e95e5ef85fcdc8e8
https://doi.org/10.1038/s10038-019-0682-5
https://doi.org/10.1038/s10038-019-0682-5
Autor:
Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo
Publikováno v:
Genes, Vol 12, Iss 900, p 900 (2021)
Genes
Volume 12
Issue 6
Genes
Volume 12
Issue 6
Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome sequencing, many NAA10 variants ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8
http://hdl.handle.net/10230/49030
http://hdl.handle.net/10230/49030
Autor:
Anna Paola Capra, Ilaria Catusi, Rachele Cantone, Angela Peron, Flaviana Elia, Enrico Grosso, Silvana Briuglia, Monica Saccani, Maria Garzo, Corrado Romano, Maria Paola Recalcati, Lidia Larizza, Francesca Forzano, Ornella Galesi, Chiara Baldo, Michela Malacarne, Maria Paola Canevini
Publikováno v:
Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 652, p 652 (2021)
Volume 12
Issue 5
Genes, Vol 12, Iss 652, p 652 (2021)
To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 sugge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75671d2efc2445ae8964f3828176b01c
http://hdl.handle.net/20.500.11769/524541
http://hdl.handle.net/20.500.11769/524541