Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Alessia Asaro"'
Autor:
Costanza Varesio, Simone Gana, Alessia Asaro, Elena Ballante, Raffaella Fiamma Cabini, Elena Tartara, Michela Bagnaschi, Ludovica Pasca, Marialuisa Valente, Simona Orcesi, Cristina Cereda, Pierangelo Veggiotti, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis
Publikováno v:
Diagnostics, Vol 11, Iss 6, p 948 (2021)
Background: The advent of next-generation sequencing (NGS) techniques in clinical practice led to a significant advance in gene discovery. We aimed to describe diagnostic yields of a “dynamic” exome-based approach in a cohort of patients with epi
Externí odkaz:
https://doaj.org/article/dcc0ca1fd94e48abb46047ad3ba51674
Autor:
Francesca Gallini, Domenica Battaglia, Domenico M. Romeo, Luca Massimi, Eugenio Mercuri, Simona Gaudino, Domenico Umberto De Rose, Alessia Asaro, Ilaria Contaldo, Chiara Veredice, Cristina Cereda, Eloisa Tiberi, Giovanni Vento
Publikováno v:
Neurological Sciences
Background JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46c5ac30cbf5eb3aae2480a9839cbc6e
https://doi.org/10.1007/s10072-021-05480-z
https://doi.org/10.1007/s10072-021-05480-z
Autor:
Ludovica Pasca, Simone Gana, Raffaella Fiamma Cabini, Elena Tartara, Costanza Varesio, Simona Orcesi, Marialuisa Valente, Cristina Cereda, Alessia Asaro, Renato Borgatti, Elena Ballante, Michela Bagnaschi, Pierangelo Veggiotti, Enza Maria Valente, Valentina De Giorgis
Publikováno v:
Diagnostics
Volume 11
Issue 6
Diagnostics, Vol 11, Iss 948, p 948 (2021)
Volume 11
Issue 6
Diagnostics, Vol 11, Iss 948, p 948 (2021)
Background: The advent of next-generation sequencing (NGS) techniques in clinical practice led to a significant advance in gene discovery. We aimed to describe diagnostic yields of a “dynamic” exome-based approach in a cohort of patients with epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::451c0c64d58ac86be96454e0f5423ea1
Autor:
Fiorella Gurrieri, Emanuela Ponzi, Marcella Zollino, Maurizio Genuardi, Daniela Orteschi, Alessia Asaro
Publikováno v:
European Journal of Medical Genetics. 58:400-405
We report on a 3-year-old male with intellectual disability (ID), characteristic facial features, polydactyly and epilepsy carrying a paternally inherited 3q28 deletion of 1.9 Mb. The father, carrying the same deletion, presents with cleft palate, na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8641fe7b2fad27ccc7de03efed7d33
https://doi.org/10.1016/j.ejmg.2015.06.001
https://doi.org/10.1016/j.ejmg.2015.06.001
Autor:
Maria Antonietta Blasi, Giulia Coco, Daniela Orteschi, Antonino Mulè, Gianluigi Petrone, Alessia Asaro, Marcella Zollino, Monica Maria Pagliara
Purpose To determine genetic features of a pediatric uveal melanoma in a 6-year-old girl by array-based comparative genomic hybridization (a-CGH) and assess prognosis, and to search for constitutional copy number variations (CNVs) encompassing oncosu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a145693402ca77661d7f50e247defef9
https://hdl.handle.net/2108/316228
https://hdl.handle.net/2108/316228
Autor:
Domenica Battaglia, Emanuela Ponzi, Concetta Cafiero, Vincenzo Leuzzi, Marcella Zollino, Daniela Orteschi, Eugenio Mercuri, Stefania Ricciardi, Alessia Asaro, Marina Murdolo, Alice Moncada, Anne Slavotinek, Ilaria Contaldo, Giorgia Mancano, Giuseppe Marangi, Marwan Ali
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search for causative gene variants in seven subjects with intellectual disability and overlapping dysmorphic facial features such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::015242fef6d61e752592dd2a37c8bc60
https://hdl.handle.net/10807/66218
https://hdl.handle.net/10807/66218
Autor:
Domiziana Ranalli, Concetta Cafiero, Celeste Acquafondata, Stefania Ricciardi, Giuseppe Marangi, M Ruiter, Daniela Chieffo, Ilaria Contaldo, Marcella Zollino, Katharina Steindl, Marina Murdolo, Domenica Battaglia, Alessia Asaro, Daniela Orteschi, Rolph Pfundt
Publikováno v:
Epilepsia, 55, 849-57
Epilepsia, 55, 6, pp. 849-57
Epilepsia, 55, 6, pp. 849-57
Item does not contain fulltext OBJECTIVE: Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72354916eb3b5c87276e2ee23f0bc2eb
http://hdl.handle.net/2066/137153
http://hdl.handle.net/2066/137153