Papuc SM - Search Results

1

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: papuc sm. Genes (Basel). 2021 Jul 1;12(7):1025. doi: 10.3390/genes12071025. Genes (Basel). 2021. PMID: 34356041 Free PMC article.

2

Novel clinical finding in MECP2 duplication syndrome.

Budisteanu M, Papuc SM, Tutulan-Cunita A, Budisteanu B, Arghir A. Budisteanu M, et al. Among authors: papuc sm. Eur Child Adolesc Psychiatry. 2011 Jul;20(7):373-5. doi: 10.1007/s00787-011-0184-2. Epub 2011 May 18. Eur Child Adolesc Psychiatry. 2011. PMID: 21590509 No abstract available.

3

3p interstitial deletion: novel case report and review.

Ţuţulan-Cunită AC, Papuc SM, Arghir A, Rötzer KM, Deshpande C, Lungeanu A, Budişteanu M. Ţuţulan-Cunită AC, et al. Among authors: papuc sm. J Child Neurol. 2012 Aug;27(8):1062-6. doi: 10.1177/0883073811431016. Epub 2012 Jan 30. J Child Neurol. 2012. PMID: 22290856 Review.

4

Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.

Tuţulan-Cuniţă AC, Budişteanu M, Papuc SM, Dupont JM, Blancho D, Lebbar A, Viot G, Lungeanu A, Arghir A. Tuţulan-Cuniţă AC, et al. Among authors: papuc sm. Psychiatry Res. 2012 May 30;197(3):356-7. doi: 10.1016/j.psychres.2011.11.016. Epub 2012 Feb 22. Psychiatry Res. 2012. PMID: 22365273

5

Genetic technologies in cancer investigation - applications in aggresive lymphoid malignancies.

Berbec NM, Arghir A, Vitcu A, Angelescu S, Colita Amd A, Ciobanu A, Papuc SM, Tutlan-Cunita AC, Lupu AR. Berbec NM, et al. Among authors: papuc sm. Maedica (Bucur). 2012 Jan;7(1):75-9. Maedica (Bucur). 2012. PMID: 23118825 Free PMC article. No abstract available.

6

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Papuc SM, Hackmann K, Andrieux J, Vincent-Delorme C, Budişteanu M, Arghir A, Schrock E, Ţuţulan-Cuniţă AC, Di Donato N. Papuc SM, et al. Eur J Med Genet. 2015 May;58(5):319-23. doi: 10.1016/j.ejmg.2015.03.005. Epub 2015 Apr 6. Eur J Med Genet. 2015. PMID: 25858704

7

Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.

Lalli MA, Jang J, Park JH, Wang Y, Guzman E, Zhou H, Audouard M, Bridges D, Tovar KR, Papuc SM, Tutulan-Cunita AC, Huang Y, Budisteanu M, Arghir A, Kosik KS. Lalli MA, et al. Among authors: papuc sm. Hum Mol Genet. 2016 Apr 1;25(7):1294-306. doi: 10.1093/hmg/ddw010. Epub 2016 Jan 10. Hum Mol Genet. 2016. PMID: 26755828

8

De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.

Budisteanu M, Papuc SM, Tutulan-Cunita AC, Budisteanu B, Weis E, Arghir A, Zechner U, Bartsch O. Budisteanu M, et al. Among authors: papuc sm. Clin Dysmorphol. 2017 Jul;26(3):187-189. doi: 10.1097/MCD.0000000000000180. Clin Dysmorphol. 2017. PMID: 28277377 No abstract available.

9

Floating-Harbor Syndrome: Presentation of the First Romanian Patient with a SRCAP Mutation and Review of the Literature.

Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B. Budisteanu M, et al. Among authors: papuc sm. Balkan J Med Genet. 2018 Oct 29;21(1):83-86. doi: 10.2478/bjmg-2018-0005. eCollection 2018 Jun. Balkan J Med Genet. 2018. PMID: 30425916 Free PMC article.

10

Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature.

Budişteanu M, Burloiu CM, Papuc SM, Focşa IO, Riga D, Riga S, Arghir A. Budişteanu M, et al. Among authors: papuc sm. Rom J Morphol Embryol. 2019;60(2):713-716. Rom J Morphol Embryol. 2019. PMID: 31658349 Free article. Review.

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