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Page 1
[Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].
Pânzaru M, Rusu C, Voloşciuc M, Braha E, Butnariu L, Ivanov I, Grămescu M, Popescu R, Caba L, Sireteanu A, Macovei M, Covic M, Gorduza EV. Pânzaru M, et al. Rev Med Chir Soc Med Nat Iasi. 2011 Jul-Sep;115(3):756-61. Rev Med Chir Soc Med Nat Iasi. 2011. PMID: 22046783 Romanian.
Phenotypic variability in Patau syndrome.
Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV. Caba L, et al. Among authors: panzaru m. Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):321-7. Rev Med Chir Soc Med Nat Iasi. 2013. PMID: 24340511
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, Neri M, Gualandi F, Szabò L, Fekete B, Angelova L, Litvinenko I, Ivanov I, Vildan Y, Iuhas OA, Vintan M, Burloiu C, Lacramioara B, Visa G, Epure D, Rusu C, Vasile D, Sandu M, Vlodavets D, Mager M, Kyriakides T, Delin S, Lehman I, Fureš JS, Bojinova V, Militaru M, Guergueltcheva V, Burnyte B, Molnar MJ, Butoianu N, Bensemmane SD, Makri-Mokrane S, Herczegfalvi A, Panzaru M, Emandi AC, Lusakowska A, Potulska-Chromik A, Kostera-Pruszczyk A, Shatillo A, Khelladi DB, Dendane O, Fang M, Lu Z, Ferlini A. Selvatici R, et al. Among authors: panzaru m. Neurol Genet. 2020 Dec 24;7(1):e536. doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33376799 Free PMC article.
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: panzaru 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
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability.
Mazzucato M, Pozza LVD, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C, Maiella S, Panzaru M, Rusu C, Weber S, Zurriaga O, Zvolsky M, Rath A. Mazzucato M, et al. Among authors: panzaru m. Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6. Orphanet J Rare Dis. 2023. PMID: 37667299 Free PMC article.
Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.
Butnariu LI, Gorduza EV, Țarcă E, Pânzaru MC, Popa S, Stoleriu S, Lupu VV, Lupu A, Cojocaru E, Trandafir LM, Moisă ȘM, Florea A, Stătescu L, Bădescu MC. Butnariu LI, et al. Among authors: panzaru mc. Diagnostics (Basel). 2023 Jul 12;13(14):2348. doi: 10.3390/diagnostics13142348. Diagnostics (Basel). 2023. PMID: 37510094 Free PMC article. Review.
Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.
Ciobanu CG, Nucă I, Popescu R, Antoci LM, Caba L, Ivanov AV, Cojocaru KA, Rusu C, Mihai CT, Pânzaru MC. Ciobanu CG, et al. Among authors: panzaru mc. Int J Mol Sci. 2023 May 24;24(11):9206. doi: 10.3390/ijms24119206. Int J Mol Sci. 2023. PMID: 37298158 Free PMC article. Review.
22 results