Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Erbescu A"'
Autor:
Papuc Sorina Mihaela, Budisteanu Magdalena, Erbescu Alina, Ionescu Virgil, Iliescu Catrinel, Sandu Carmen, Arghir Aurora
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 30, Iss 3, Pp 345-352 (2022)
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://doaj.org/article/9cb8cf4e6c054e4784b0d4c181b79705
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
Autor:
Papuc, Sorina-Mihaela, Glangher, Adelina, Erbescu, Alina, Arsene, Oana Tarta, Arghir, Aurora, Budisteanu, Magdalena
Publikováno v:
Italian Journal of Pediatrics; 9/27/2024, Vol. 50 Issue 1, p1-8, 8p
Publikováno v:
European Psychiatry, Vol 65, Pp S224-S224 (2022)
Introduction Background: Copy-number variants (CNVs) of chromosome 15 have been associated with neurodevelopmental disorders like autism spectrum disorders (ASDs) and developmental delay. Objectives We report 6 patients with autistic features and ot
Externí odkaz:
https://doaj.org/article/7b4ef7cb306b43b0b9ad3c7ca3861fe4
Autor:
M. Budisteanu, S. Papuc, A. Erbescu, C. Iliescu, M. Dobre, D. Barca, O. Tarta-Arsene, C. Motoescu, A. Dica, C. Sandu, C. Anghelescu, D. Craiu, A. Arghir
Publikováno v:
European Psychiatry, Vol 64, Pp S638-S639 (2021)
Introduction Brain heterotopia represent a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to severe clinical picture (resistant epilepsy, severe developmental delay). The etiology is multifactorial, including bo
Externí odkaz:
https://doaj.org/article/fdb52d98f68f4181a9a5d752df360ac7
Autor:
M. Budisteanu, S. Papuc, A. Erbescu, E. Andrei, I. Streata, M. Cucu, C. Iliescu, C. Anghelescu, D. Ioana, M. Ioana, F. Rad, A. Arghir
Publikováno v:
European Psychiatry, Vol 64, Pp S720-S720 (2021)
Introduction 15q11.2-q13.3 region is prone to genomic rearrangements leading to both deletions and duplications. A wide spectrum of neuropsychiatric conditions, such as developmental delay/intellectual disability (DD/ID), autism, attention-deficit hy
Externí odkaz:
https://doaj.org/article/596946246bf24c6d845fc29aa1769cbe
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
Akademický článek
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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
Publikováno v:
Frontiers in Psychiatry. 13
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::8feb3bd60cc3aae9436dfe4e8bc292cb