Budișteanu M - Search Results

1

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.

Neagu AC, Budișteanu M, Gheorghe DC, Mocanu AI, Mocanu H. Neagu AC, et al. Among authors: budisteanu m. Medicina (Kaunas). 2022 Sep 9;58(9):1252. doi: 10.3390/medicina58091252. Medicina (Kaunas). 2022. PMID: 36143929 Free PMC article. Review.

2

Phenotypic and Genotypic Spectrum of Early-Onset Developmental and Epileptic Encephalopathies-Data from a Romanian Cohort.

Riza AL, Streață I, Roza E, Budișteanu M, Iliescu C, Burloiu C, Dobrescu MA, Dorobanțu S, Dragoș A, Grigorescu A, Tătaru T, Ioana M, Teleanu R. Riza AL, et al. Among authors: budisteanu m. Genes (Basel). 2022 Jul 15;13(7):1253. doi: 10.3390/genes13071253. Genes (Basel). 2022. PMID: 35886038 Free PMC article.

3

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

Khan S, Focșa IO, Budișteanu M, Stoica C, Nedelea F, Bohîlțea L, Caba L, Butnariu L, Pânzaru M, Rusu C, Jurcă C, Chirita-Emandi A, Bănescu C, Abbas W, Sadeghpour A, Baig SM, Bălgrădean M, Davis EE. Khan S, et al. Among authors: budisteanu m. Am J Med Genet A. 2023 Sep;191(9):2376-2391. doi: 10.1002/ajmg.a.63322. Epub 2023 Jun 9. Am J Med Genet A. 2023. PMID: 37293956

4

Treatment of Epilepsy Associated with Common Chromosomal Developmental Diseases.

Budisteanu M, Jurca C, Papuc SM, Focsa I, Riga D, Riga S, Jurca A, Arghir A. Budisteanu M, et al. Open Life Sci. 2020 Feb 28;15:21-29. doi: 10.1515/biol-2020-0003. eCollection 2020. Open Life Sci. 2020. PMID: 33987468 Free PMC article.

5

Magnetic resonance imaging of brain anomalies in adult and pediatric schizophrenia patients: Experience of a Romanian tertiary hospital.

Iliuta FP, Manea MC, Budisteanu M, Andrei E, Linca F, Rad F, Cergan R, Ciobanu AM. Iliuta FP, et al. Among authors: budisteanu m. Exp Ther Med. 2021 Oct;22(4):1098. doi: 10.3892/etm.2021.10532. Epub 2021 Aug 2. Exp Ther Med. 2021. PMID: 34504552 Free PMC article.

6

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.

Focșa IO, Budișteanu M, Burloiu C, Khan S, Sadeghpour A, Bohîlțea LC, Davis EE, Bălgrădean M. Focșa IO, et al. Among authors: budisteanu m. Biomed Rep. 2021 Dec;15(6):103. doi: 10.3892/br.2021.1479. Epub 2021 Oct 21. Biomed Rep. 2021. PMID: 34760276 Free PMC article.

7

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.

Budisteanu M, Papuc SM, Erbescu A, Iliescu C, Dobre M, Barca D, Tarta-Arsene O, Motoescu C, Dica A, Sandu C, Anghelescu C, Craiu D, Arghir A. Budisteanu M, et al. Exp Ther Med. 2022 Jan;23(1):101. doi: 10.3892/etm.2021.11024. Epub 2021 Dec 1. Exp Ther Med. 2022. PMID: 34976143 Free PMC article.

8

Phenotypic Variability of 17q12 Microdeletion Syndrome - Three Cases and Review of Literature.

Țuțulan-Cuniță A, Pavel AG, Dimos L, Nedelea M, Ursuleanu A, Neacșu AT, Budișteanu M, Stambouli D. Țuțulan-Cuniță A, et al. Among authors: budisteanu m. Balkan J Med Genet. 2022 Jun 5;24(2):71-82. doi: 10.2478/bjmg-2021-0025. eCollection 2021 Nov. Balkan J Med Genet. 2022. PMID: 36249519 Free PMC article.

9

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.

Papuc SM, Erbescu A, Glangher A, Streata I, Riza AL, Budisteanu M, Arghir A. Papuc SM, et al. Among authors: budisteanu m. Genes (Basel). 2023 Jan 27;14(2):327. doi: 10.3390/genes14020327. Genes (Basel). 2023. PMID: 36833254 Free PMC article.

10

Intellectual disability and epilepsy in down syndrome.

Barca D, Tarta-Arsene O, Dica A, Iliescu C, Budisteanu M, Motoescu C, Butoianu N, Craiu D. Barca D, et al. Among authors: budisteanu m. Maedica (Bucur). 2014 Dec;9(4):344-50. Maedica (Bucur). 2014. PMID: 25705303 Free PMC article.

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