Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Alina Erbescu"'
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:
Sorina Mihaela Papuc, Carmen Sandu, Catrinel Iliescu, Cristina Anghelescu, Aurora Arghir, Oana Tarta Arsene, C Motoescu, D Barca, Magdalena Budisteanu, Alina Erbescu, Maria Dobre, Alice Dica, Dana Craiu
Publikováno v:
Experimental and Therapeutic Medicine
Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e98f2c9998f3916297128ffd4a89ab7
https://doi.org/10.3892/etm.2021.11024
https://doi.org/10.3892/etm.2021.11024
Akademický článek
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Akademický článek
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Autor:
Emanuela Andrei, Mihai Ioana, Simona Serban-Sosoi, Aurora Arghir, Ioana Streata, Magdalena Budisteanu, Andrei Pirvu, Alina Erbescu, Sorina Mihaela Papuc, Doina Ioana, Catrinel Iliescu, Mihai Gabriel Cucu, Emilia Severin
Publikováno v:
Genes, Vol 12, Iss 1025, p 1025 (2021)
Genes
Volume 12
Issue 7
Genes
Volume 12
Issue 7
Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, auti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c598d819a96f9582005e7387cada7803
https://doi.org/10.3390/genes12071025
https://doi.org/10.3390/genes12071025