Zobrazeno 1 - 10
of 84
pro vyhledávání: '"M. Budisteanu"'
Autor:
E. P. Tissink, A. A. Shadrin, D. van der Meer, N. Parker, G. Hindley, D. Roelfs, O. Frei, C. C. Fan, M. Nagel, T. Nærland, M. Budisteanu, S. Djurovic, L. T. Westlye, M. P. van den Heuvel, D. Posthuma, T. Kaufmann, A. M. Dale, O. A. Andreassen
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)
Abstract Genetic pleiotropy is abundant across spatially distributed brain characteristics derived from one neuroimaging modality (e.g. structural, functional or diffusion magnetic resonance imaging [MRI]). A better understanding of pleiotropy across
Externí odkaz:
https://doaj.org/article/203e2f5dc82f421b993ffe55514ea803
Autor:
M. Trusmei, M. Budisteanu
Publikováno v:
European Psychiatry, Vol 65, Pp S436-S437 (2022)
Introduction Menke-Hennekam syndrome (MHS) is a relatively new genetic condition characterized by intellectual disabilities, autistic behavior, auditory defects, recurrent upper respiratory tract infections, microcephaly and short stature. Facial cha
Externí odkaz:
https://doaj.org/article/557c3a6f15804644a6be8f265e90eb2a
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:
A.C. Stanciu, F. Rad, I. Mihailescu, L. Mateescu, R. Grozavescu, E. Andrei, B. Budisteanu, F. Linca, D. Ioana, C. Iliescu, S. Papuc, A. Arghir, I. Dobrescu, M. Budisteanu
Publikováno v:
European Psychiatry, Vol 64, Pp S86-S86 (2021)
Introduction Autism spectrum disorder (ASD) is characterized by persistent deficits in social communication and social interaction across multiple contexts and it is marked by repetitive sensory–motor behaviours and restricted interests or activiti
Externí odkaz:
https://doaj.org/article/4ba616a77b124cf4a3a5a9699c1392e0
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:
E.P. Tissink, A.A. Shadrin, D. van der Meer, N. Parker, G. Hindley, D. Roelfs, O. Frei, C.C. Fan, M. Nagel, T. Nærland, M. Budisteanu, S. Djurovic, L. T. Westlye, M.P. van den Heuvel, D. Posthuma, T. Kaufmann, A.M. Dale, O.A. Andreassen
Genetic pleiotropy is abundant across spatially distributed brain characteristics derived from one neuroimaging modality (e.g. structural, functional or diffusion MRI). A better understanding of pleiotropy across modalities could inform us on the int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::66a036a2b05d58f70050300d106fec50
https://doi.org/10.1101/2022.12.20.521181
https://doi.org/10.1101/2022.12.20.521181
Akademický článek
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Akademický článek
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Autor:
D Riga, Shahida Moosa, Sorina Mihaela Papuc, Michaela Thoenes, Nina Bögershausen, M Budisteanu, A. Arghir, Bernd Wollnik
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 83-86 (2018)
Balkan Journal of Medical Genetics, Vol 21, Iss 1, Pp 83-86 (2018)
Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc797b3e2535c02c1cc7a5d2bbdb39ed
https://doi.org/10.2478/bjmg-2018-0005
https://doi.org/10.2478/bjmg-2018-0005