Zobrazeno 1 - 10
of 573
pro vyhledávání: '"orsetta zuffardi"'
Autor:
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract Split-Hand/Foot Malformation type 3 (SHFM3) is a congenital limb malformation associated with tandem duplications at the LBX1/FGF8 locus. Yet, the disease patho-mechanism remains unsolved. Here we investigate the functional consequences of S
Externí odkaz:
https://doaj.org/article/27b33b301108451781fc2f2c96624f98
Autor:
Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Teresa Mattina, Orsetta Zuffardi
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Optical genome mapping (OGM), which allows analysis of ultra-high molecular weight (UHMW) DNA molecules, represents a response to the restriction created by short-read next-generation-sequencing, even in cases where the causative variant is a neutral
Externí odkaz:
https://doaj.org/article/fbd32ae830324e058e86552a52ea5145
Autor:
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Here the authors characterize structural variations (SVs) in a cohort of individuals with complex genomic rearrangements, identifying breakpoints by employing short- and long-read genome sequencing and investigate their impact on gene expression and
Externí odkaz:
https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd
Autor:
Roberta Zuntini, Chiara Cattani, Lucia Pedace, Evelina Miele, Stefano Giuseppe Caraffi, Stefano Gardini, Elena Ficarelli, Simone Pizzi, Francesca Clementina Radio, Angelica Barone, Simonetta Piana, Patrizia Bertolini, Domenico Corradi, Maria Marinelli, Caterina Longo, Alberico Motolese, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
We report a 7-year-old boy born with epidermal nevi (EN) arranged according to Blaschko’s lines involving the face and head, right upper limb, chest, and left lower limb, who developed a left paratesticular embryonal rhabdomyosarcoma at 18 months o
Externí odkaz:
https://doaj.org/article/11c9a2f28d984570a4371bea13d887a7
Autor:
Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/d0d5481afd794735a1ae4c2da1a07b3f
Autor:
Shingo Suzuki, Keisuke Chosa, Cristina Barillà, Michael Yao, Orsetta Zuffardi, Hirofumi Kai, Tsuyoshi Shuto, Mary Ann Suico, Yuet W. Kan, R. Geoffrey Sargent, Dieter C. Gruenert
Publikováno v:
Frontiers in Genome Editing, Vol 4 (2022)
Background: Gene correction via homology directed repair (HDR) in patient-derived induced pluripotent stem (iPS) cells for regenerative medicine are becoming a more realistic approach to develop personalized and mutation-specific therapeutic strategi
Externí odkaz:
https://doaj.org/article/98771079d2134f55b64cdc7d8d0cd6f4
Autor:
Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi, Marco Fichera
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Background It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a disease gene or its cis
Externí odkaz:
https://doaj.org/article/35fd16790adc46e8a865fc9511e50a52
Autor:
Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Giglio
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of suc
Externí odkaz:
https://doaj.org/article/54541f30f2da4d9aa3cd75c461481077
Autor:
Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese, Antonio Ceriello
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy,
Externí odkaz:
https://doaj.org/article/d7e420b7a4f34bdeb992ccaa224c8ac2
Autor:
Aldesia Provenzano, Antonio Farina, Anna Seidenari, Francesco Azzaroli, Carla Serra, Anna Della Gatta, Orsetta Zuffardi, Sabrina Rita Giglio
Publikováno v:
Diagnostics, Vol 11, Iss 10, p 1904 (2021)
Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have conseq
Externí odkaz:
https://doaj.org/article/b7b6793f86ec4ad998f56db6b77b9c81