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Year Number of Results
2014 2
2015 2
2016 3
2017 4
2018 3
2019 1
2020 4
2021 7
2022 6
2023 7
2024 2

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39 results

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Page 1
Phenotype Heterogeneity in 3q29 Microduplication Syndrome.
Streata I, Riza AL, Sosoi S, Burada F, Ioana M. Streata I, et al. Curr Health Sci J. 2020 Apr-Jun;46(2):193-197. doi: 10.12865/CHSJ.46.02.14. Epub 2020 Jun 30. Curr Health Sci J. 2020. PMID: 32874693 Free PMC article.
The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.
Budisteanu M, Papuc SM, Streata I, Cucu M, Pirvu A, Serban-Sosoi S, Erbescu A, Andrei E, Iliescu C, Ioana D, Severin E, Ioana M, Arghir A. Budisteanu M, et al. Among authors: streata i. Genes (Basel). 2021 Jul 1;12(7):1025. doi: 10.3390/genes12071025. Genes (Basel). 2021. PMID: 34356041 Free PMC article.
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.
Kozma K, Bembea M, Jurca CM, Ioana M, Streață I, Şoşoi SŞ, Pirvu A, Petchesi CD, Szilágyi A, Sava CN, Jurca A, Ujfalusi A, Szűcs Z, Szakszon K. Kozma K, et al. Among authors: streata i. Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674. Genes (Basel). 2021. PMID: 34828280 Free PMC article. Review.
First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies.
Ungureanu DR, Drăgușin RC, Căpitănescu RG, Zorilă L, Ofițeru AMI, Marinaș C, Pătru CL, Comănescu AC, Comănescu MC, Sîrbu OC, Vrabie MS, Dijmărescu LA, Streață I, Burada F, Ioana M, Drăgoescu AN, Iliescu DG. Ungureanu DR, et al. Among authors: streata i. Brain Sci. 2023 Jan 9;13(1):118. doi: 10.3390/brainsci13010118. Brain Sci. 2023. PMID: 36672099 Free PMC article.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: streata i. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Association between genetic variants and depression in a Romanian cohort.
Costache A, Riza AL, Popescu M, Streaţă I, Dincă ME, Glăvan DG, Vladu IM, Udriştoiu I, Ioana M. Costache A, et al. Among authors: streata i. Rom J Morphol Embryol. 2021 Apr-Jun;62(2):491-496. doi: 10.47162/RJME.62.2.15. Rom J Morphol Embryol. 2021. PMID: 35024737 Free PMC article.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L. Iruzubieta P, et al. Among authors: streata i. Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print. Brain. 2024. PMID: 38366623
39 results