Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Aurora, Arghir"'
Autor:
Sorina-Mihaela Papuc, Adelina Glangher, Alina Erbescu, Oana Tarta Arsene, Aurora Arghir, Magdalena Budisteanu
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background The Coiled-Coil Domain-Containing Protein 88 A (CCDC88A) gene encodes the actin-binding protein Girdin, which plays important roles in maintaining the actin cytoskeleton and in cell migration and was recently associated with a spe
Externí odkaz:
https://doaj.org/article/49a781ad69ec41869fe96efee47f0355
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by communication and social interaction deficits, and by restricted interests and stereotyped, repetitive behavior patterns. ASD has a strong genetic component and a compl
Externí odkaz:
https://doaj.org/article/01a9b4e8029e455d9dd142afdd7062e6
Autor:
Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Publikováno v:
Clinical Case Reports, Vol 9, Iss 1, Pp 314-321 (2021)
Abstract Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that
Externí odkaz:
https://doaj.org/article/b65e0d882c1745e7bb63a0a7916a67a4
Autor:
Sorina Mihaela Papuc, Magdalena Budisteanu, Alina Erbescu, Virgil Ionescu, Catrinel Iliescu, Carmen Sandu, Aurora Arghir
Publikováno v:
Revista Romana de Medicina de Laborator. 30:345-352
Subcortical band heterotopia (SBH), is a brain malformation defined by symmetrical and bilateral heterotopic gray matter bands localized deep within the white matter, between the cortex and lateral ventricles. SBH is the result of abnormal neuronal m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b03e40e2aec11e192527d506bc990d6e
https://doi.org/10.2478/rrlm-2022-0031
https://doi.org/10.2478/rrlm-2022-0031
Autor:
Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 327
Volume 14
Issue 2
Pages: 327
Orofaciodigital syndrome I (OFD1–MIM #311200) is a rare ciliopathy characterized by facial dysmorphism, oral cavity, digit, and brain malformations, and cognitive deficits. OFD1 syndrome is an X-linked dominant disorder reported mostly in females.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36b7cfd977f799c00d19a4c3cac8c501
Autor:
Andreea Tutulan-Cunita, Carmelo Piscopo, Aurora Arghir, Laura Ciocca, Marina Goldoni, Magdalena Budisteanu, Silvia Genovese, Antonio Novelli, Sorina Mihaela Papuc, Laura Bernardini, Alina Erbescu, Sara Loddo
Publikováno v:
Clinical Case Reports, Vol 9, Iss 1, Pp 314-321 (2021)
Clinical Case Reports
Clinical Case Reports
Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18e9ed00411c2ac25a519f1a75c234ff
https://doaj.org/article/b65e0d882c1745e7bb63a0a7916a67a4
https://doaj.org/article/b65e0d882c1745e7bb63a0a7916a67a4
Autor:
Dan Sebastian Soare, Ana M. Vladareanu, Aurora Arghir, Eugen Radu, Cristina Enache, Horia Bumbea, Ion Dumitru
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 29, Iss 1, Pp 33-41 (2021)
FMS-like tyrosine kinase 3 gene internal tandem (FLT3-ITD) mutations represent one of the most frequent genetic lesions in acute myeloid leukemia (AML) and imparts a negative prognostic. For an optimal patient management, current clinical guidelines
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5623874983c18167d2924956353bfafc
https://doi.org/10.2478/rrlm-2021-0004
https://doi.org/10.2478/rrlm-2021-0004
Publikováno v:
Journal of Cell Identity. 1:83-90
This article explore the avenues opened by single cell genomics in medical research and clinical practice, with focus on brain and neurodevelopmental disorders such as autism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30a4f80e5d6894873929446a3b6128ed
https://doi.org/10.47570/joci.2020.005
https://doi.org/10.47570/joci.2020.005
Autor:
Aurora Arghir, Dan Riga, Magdalena Budisteanu, Alexandru Daniel Jurcă, Ina Ofelia Focsa, Sorina Mihaela Papuc, Sorin Riga, Claudia Jurca
Publikováno v:
Open Life Sciences
Open Life Sciences, Vol 15, Iss 1, Pp 21-29 (2020)
Open Life Sciences, Vol 15, Iss 1, Pp 21-29 (2020)
Chromosomal diseases are heterogeneous conditions with complex phenotypes, which include also epileptic seizures. Each chromosomal syndrome has a range of specific characteristics regarding the type of seizures, EEG findings and specific response to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e502b35670e91756d3a78518ff0bb90
http://europepmc.org/articles/PMC8114617
http://europepmc.org/articles/PMC8114617
Autor:
Quentin Guillon, Sophie Baduel, Álvaro Bejarano-Martín, Ricardo Canal-Bedia, María MagÁn-Maganto, Clara FernÁndez-Álvarez, María Victoria Martín-Cilleros, María Cruz SÁnchez-Gómez, Patricia García-Primo, Mary Rose-Sweeney, Andrew Boilson, Renata LinertovÁ, Herbert Roeyers, Sara Van der Paelt, Diana Schendel, Christine Kloster Warberg, Susanne Cramer, Antonio Narzisi, Filippo Muratori, María Luisa Scattoni, Irma Moilanen, Anneli Yliherva, Evald Saemundsen, Sigridur Loa Jonsdottir, Magdalena Efrim-Budisteanu, Aurora Arghir, Sorina Mihaela Papuc, Astrid Vicente, Celia Rasga, Johanna Xenia Kafka, Luise Poustka, Oswald D Kothgassner, Rafal Kawa, Ewa Pisula, Tracey Sellers, Manuel Posada de la Paz, Bernadette Rogé
Publikováno v:
AUTISM
Guillon, Q, Baduel, S, Bejarano-Martín, Á, Canal-Bedia, R, MagÁn-Maganto, M, FernÁndez-Álvarez, C, Martín-Cilleros, M V, SÁnchez-Gómez, M C, García-Primo, P, Rose-Sweeney, M, Boilson, A, LinertovÁ, R, Roeyers, H, Van der Paelt, S, Schendel, D, Warberg, C K, Cramer, S, Narzisi, A, Muratori, F, Scattoni, M L, Moilanen, I, Yliherva, A, Saemundsen, E, Jonsdottir, S L, Efrim-Budisteanu, M, Arghir, A, Papuc, S M, Vicente, A, Rasga, C, Xenia Kafka, J, Poustka, L, Kothgassner, O D, Kawa, R, Pisula, E, Sellers, T, Posada de la Paz, M & Rogé, B 2022, ' Determinants of satisfaction with the detection process of autism in Europe : Results from the ASDEU study ', Autism, vol. 26, no. 8, pp. 2136-2150 . https://doi.org/10.1177/13623613221080318
Guillon, Q, Baduel, S, Bejarano-Martín, Á, Canal-Bedia, R, MagÁn-Maganto, M, FernÁndez-Álvarez, C, Martín-Cilleros, M V, SÁnchez-Gómez, M C, García-Primo, P, Rose-Sweeney, M, Boilson, A, LinertovÁ, R, Roeyers, H, Van der Paelt, S, Schendel, D, Warberg, C K, Cramer, S, Narzisi, A, Muratori, F, Scattoni, M L, Moilanen, I, Yliherva, A, Saemundsen, E, Jonsdottir, S L, Efrim-Budisteanu, M, Arghir, A, Papuc, S M, Vicente, A, Rasga, C, Xenia Kafka, J, Poustka, L, Kothgassner, O D, Kawa, R, Pisula, E, Sellers, T, Posada de la Paz, M & Rogé, B 2022, ' Determinants of satisfaction with the detection process of autism in Europe : Results from the ASDEU study ', Autism, vol. 26, no. 8, pp. 2136-2150 . https://doi.org/10.1177/13623613221080318
Satisfaction with the detection process of autism and its determinants was investigated using data from the Autism Spectrum Disorder in the European Union (2015–2018) network. A total of 1342 family members, including 1278 parents, completed an onl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9c70d77b11af21658561367939617f
https://biblio.ugent.be/publication/01GTRKJWABH23MJ57FS8AG2B59/file/01GTRMBTS7W61RNCD3KPR2FQZH
https://biblio.ugent.be/publication/01GTRKJWABH23MJ57FS8AG2B59/file/01GTRMBTS7W61RNCD3KPR2FQZH
