Sorina Mihaela Papuc
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Explore the profile of Sorina Mihaela Papuc including associated specialties, affiliations and a list of published articles.
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21
Citations
169
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Recent Articles
1.
Budisteanu M, Papuc S, Erbescu A, Glangher A, Andrei E, Rad F, et al.
Rev Neurosci
. 2024 Nov;
PMID: 39566028
Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by deficits in social relationships and communication and restrictive, repetitive behaviors and interests. ASDs form a heterogeneous group from a clinical and...
2.
Papuc S, Erbescu A, Glangher A, Streata I, Riza A, Budisteanu M, et al.
Genes (Basel)
. 2023 Feb;
14(2).
PMID: 36833254
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...
3.
Erbescu A, Papuc S, Budisteanu M, Arghir A, Neagu M
Front Psychiatry
. 2022 Nov;
13:1006612.
PMID: 36339838
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...
4.
Guillon Q, Baduel S, Bejarano-Martin A, Canal-Bedia R, Magan-Maganto M, Fernandez-Alvarez C, et al.
Autism
. 2022 Mar;
26(8):2136-2150.
PMID: 35261293
Professional guidance and support in response to first concerns appears to be an important predictor of the level of satisfaction with the detection process of autism in young children. In...
5.
Budisteanu M, Papuc S, Erbescu A, Iliescu C, Dobre M, Barca D, et al.
Exp Ther Med
. 2022 Jan;
23(1):101.
PMID: 34976143
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...
6.
Budisteanu M, Papuc S, Streata I, Cucu M, Pirvu A, Serban-Sosoi S, et al.
Genes (Basel)
. 2021 Aug;
12(7).
PMID: 34356041
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, autism...
7.
Arghir A, Popescu R, Resmerita I, Budisteanu M, Butnariu L, Gorduza E, et al.
Genes (Basel)
. 2021 Jun;
12(6).
PMID: 34073526
Pallister-Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra...
8.
Papuc S, Erbescu A, Cisleanu D, Ozunu D, Enache C, Dumitru I, et al.
Genes (Basel)
. 2021 Jun;
12(6).
PMID: 34070898
Acute myeloid leukemia (AML) is a heterogeneous disorder characterized by a wide range of genetic defects. Cytogenetics, molecular and genomic technologies have proved to be helpful for deciphering the mutational...
9.
Budisteanu M, Jurca C, Papuc S, Focsa I, Riga D, Riga S, et al.
Open Life Sci
. 2021 May;
15:21-29.
PMID: 33987468
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...
10.
Arghir A, Papuc S, Tutulan-Cunita A, Erbescu A, Loddo S, Genovese S, et al.
Clin Case Rep
. 2021 Jan;
9(1):314-321.
PMID: 33505690
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...